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Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Backpack health reduces data-sharing barriers between the medical community and individuals with rare diseases.
Autorzy :
May L; Backpack Health, Boston, Massachusetts, USA.
Towne MC; Ambry Genetics, Aliso Viejo, California, USA.
Haynes G; Ambry Genetics, Aliso Viejo, California, USA.
Dalton E; Ambry Genetics, Aliso Viejo, California, USA.
LaDuca H; Ambry Genetics, Aliso Viejo, California, USA.
Masciale E; The Marfan Foundation, Port Washington, New York, USA.
Stephens KJ; Inclusive Thinking, Knoxville, Tennessee, USA.
Hogan M; Doulots, LLC, Thompson Station, Tennessee, USA.
Shapiro-Barr M; Backpack Health, Boston, Massachusetts, USA.
Sheedy R; Backpack Health, Boston, Massachusetts, USA.
Smith E; Backpack Health, Boston, Massachusetts, USA.
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Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Mar; Vol. 187 (1), pp. 7-13. Date of Electronic Publication: 2020 Dec 05.
Typ publikacji :
Case Reports
Raport
Tytuł :
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Autorzy :
Powis Z; Department of Clinical Research Affairs, Ambry Genetics, Aliso Viejo, California.
Towne MC; Department of Clinical Research Affairs, Ambry Genetics, Aliso Viejo, California.
Hagman KDF; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Blanco K; Department of Clinical Research Affairs, Ambry Genetics, Aliso Viejo, California.
Palmaer E; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Castro A; Department of Genetic Specialists, Ambry Genetics, Aliso Viejo, California.
Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Radtke K; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Feyma TJ; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, Minnesota.
Juliette K; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, Minnesota.
Tang S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Sidiropoulos C; Department of Neurology and Ophthalmology, Michigan State University, East Lansing, Michigan.
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Źródło :
Clinical genetics [Clin Genet] 2020 Feb; Vol. 97 (2), pp. 305-311. Date of Electronic Publication: 2019 Oct 30.
Typ publikacji :
Journal Article
MeSH Terms :
Adenylyl Cyclases/*genetics
Dystonia/*diagnosis
Dystonic Disorders/*diagnosis
Intellectual Disability/*diagnosis
Adolescent ; Adult ; Age of Onset ; Child ; Dystonia/genetics ; Dystonia/pathology ; Dystonic Disorders/genetics ; Dystonic Disorders/pathology ; Exome/genetics ; Female ; Genetic Testing ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Mutation/genetics ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Expanding the phenotypic spectrum associated with OPHN1 variants.
Autorzy :
Schwartz TS; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
Wojcik MH; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
Pelletier RC; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Center for Cancer Risk Assessment, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Edward HL; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
Picker JD; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
Holm IA; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
Towne MC; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Ambry Genetics, Aliso Viejo, CA, USA.
Beggs AH; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
Agrawal PB; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Feb; Vol. 62 (2), pp. 137-143. Date of Electronic Publication: 2018 Jun 28.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Phenotype*
Craniofacial Abnormalities/*genetics
Cytoskeletal Proteins/*genetics
Developmental Disabilities/*genetics
GTPase-Activating Proteins/*genetics
Nuclear Proteins/*genetics
Adult ; Child ; Child, Preschool ; Craniofacial Abnormalities/pathology ; Developmental Disabilities/pathology ; Diagnosis, Differential ; Genetic Testing ; Humans ; Male ; Syndrome
Czasopismo naukowe
Tytuł :
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Autorzy :
Wojcik MH; Division of Newborn Medicine, Harvard Medical School, Boston, Massachusetts, USA. .; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA. .; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. .
Schwartz TS; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Yamin I; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Edward HL; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Genetti CA; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Towne MC; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Ambry Genetics, Aliso Viejo, California, USA.
Agrawal PB; Division of Newborn Medicine, Harvard Medical School, Boston, Massachusetts, USA. .; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA. .; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Nov; Vol. 20 (11), pp. 1396-1404. Date of Electronic Publication: 2018 Apr 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Delayed Diagnosis*
Infant Mortality*
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*mortality
Child ; Female ; Genetic Diseases, Inborn/physiopathology ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Neonatal ; Male
Czasopismo naukowe
Tytuł :
Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
Autorzy :
Quiñones-Pérez B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
VanNoy GE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
Singh MN; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts.
Smith SE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Mar; Vol. 176 (3), pp. 560-569. Date of Electronic Publication: 2018 Jan 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 2*
Gene Deletion*
Genetic Association Studies*
Aortic Aneurysm, Thoracic/*diagnosis
Aortic Aneurysm, Thoracic/*genetics
Adult ; Aged ; Alleles ; Biomarkers ; Child, Preschool ; Comparative Genomic Hybridization ; Diagnostic Imaging ; Family ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Phenotype ; Syndrome
Czasopismo naukowe
Tytuł :
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Autorzy :
Wojcik MH; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA. .; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .
Wierenga KJ; Department of Pediatrics, Section of Genetics, Oklahoma University Health Sciences Center, Oklahoma City, OK, USA.
Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Sahai I; New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA, USA.
Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Peake RWA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
James PM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Berry GT; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA. .; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .
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Źródło :
JIMD reports [JIMD Rep] 2018; Vol. 39, pp. 45-54. Date of Electronic Publication: 2017 Jul 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
Autorzy :
Agrawal PB; Divisions of 1 Newborn Medicine.; 2 Genetics and Genomics.; 3 Gene Discovery Core, Manton Center for Orphan Disease Research.
Wang R; 4 Pulmonary and Respiratory Diseases, and.
Li HL; 5 Stem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.; 6 Harvard Stem Cell Institute, Cambridge, Massachusetts.; 7 Department of Genetics, and.
Schmitz-Abe K; 2 Genetics and Genomics.; 3 Gene Discovery Core, Manton Center for Orphan Disease Research.
Simone-Roach C; 4 Pulmonary and Respiratory Diseases, and.
Chen J; Departments of 8 Medicine.
Shi J; 9 Department of Biomedical Sciences, City University of Hong Kong, Kowloon, Hong Kong SAR.
Louie T; 10 Biostatistics and Center for Biomedical Statistics.
Sheng S; Departments of 8 Medicine.
Towne MC; 2 Genetics and Genomics.; 3 Gene Discovery Core, Manton Center for Orphan Disease Research.
Brainson CF; 11 Toxicology and Cancer Biology, University of Kentucky, Lexington, Kentucky; and.
Matthay MA; Departments of 12 Medicine and.; 13 Anesthesia, Cardiovascular Research Institute, University of California-San Francisco, San Francisco, California.
Kim CF; 4 Pulmonary and Respiratory Diseases, and.; 5 Stem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.; 6 Harvard Stem Cell Institute, Cambridge, Massachusetts.; 7 Department of Genetics, and.
Bamshad M; 14 Pediatrics and Genome Sciences, University of Washington, Seattle, Washington.
Emond MJ; 10 Biostatistics and Center for Biomedical Statistics.
Gerard NP; 4 Pulmonary and Respiratory Diseases, and.; 15 Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
Kleyman TR; Departments of 8 Medicine.; 16 Cell Biology, and Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Gerard C; 4 Pulmonary and Respiratory Diseases, and.
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Źródło :
American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2017 Dec; Vol. 57 (6), pp. 711-720.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms :
Amino Acid Sequence*
Sequence Deletion*
Cystic Fibrosis/*metabolism
Cystic Fibrosis Transmembrane Conductance Regulator/*metabolism
Epithelial Sodium Channels/*metabolism
Animals ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Epithelial Sodium Channels/genetics ; Female ; Humans ; Male ; Xenopus ; Xenopus laevis
Czasopismo naukowe
Tytuł :
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Autorzy :
Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: .
van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Proietti Onori M; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Ploeg MA; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Stessman HAF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.
Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.
Distel B; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.
Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.
Lesca G; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.
Sellars EA; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
van Bon BWM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
Waugh JL; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Deardorff M; Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
Bosanko KB; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
Johnson DS; Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.
Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.
Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Burton J; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Douglas J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Santani AB; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Path and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4238, USA.
Nesbitt AI; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Helbig KL; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
Tang S; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Moog U; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Hinderhofer K; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, 69120 Heidelberg, Germany and Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
Lincoln S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Kusako BH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Lindenbaum P; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
Charpentier E; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Cherot E; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Simonet T; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
Hahn S; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
Schmitt S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Deb W; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.
Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Quinquis D; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, 67091 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France.
Rudolf G; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France; Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France.
Sanlaville D; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.
Parent P; CHRU Brest, Génétique médicale, 29609 Brest, France.
Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808 Université Poitiers, France.
Toutain A; CHU Tours, Service de Génétique, 2 Boulevard Tonnellé, 37044 Tours, France.
Sutton VR; Baylor Genetics, Houston, TX 77030, USA.
Thies J; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA 98105, USA.
Peart-Vissers LELM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
Boisseau P; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Vincent M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Grabrucker AM; Department of Biological Sciences, University of Limerick, Limerick V94 T9PX, Ireland; Bernal Institute, University of Limerick, Limerick V94 T9PX, Ireland.
Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Tan WH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
Granzow M; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Isidor B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Pasquier L; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.
Redon R; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
State MW; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Kleefstra T; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Petrovski S; Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.
Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; CRCINA, Inserm, Université d'Angers, Université de Nantes, 44000 Nantes, France.
Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.
Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Electronic address: .
Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
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Corporate Authors :
Undiagnosed Diseases Network
GEM HUGO; Réseau de génétique et génomique médicale - Hôpitaux Universitaires du Grand Ouest, CHU Rennes, Service de Génétique Clinique, 35203 Rennes, France.
Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Nov 02; Vol. 101 (5), pp. 768-788.
Typ publikacji :
Journal Article
MeSH Terms :
Calcium-Calmodulin-Dependent Protein Kinase Type 2/*genetics
Intellectual Disability/*genetics
Mutation/*genetics
Animals ; Brain/pathology ; Cell Line ; Exome/genetics ; Female ; Glutamic Acid/genetics ; HEK293 Cells ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Neurons/pathology ; Phosphorylation/genetics ; Signal Transduction/genetics
Czasopismo naukowe
Tytuł :
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Autorzy :
Mehta P; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts, 02115, USA.
Küspert M; Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Bale T; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
De Girolami U; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Shi J; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong.
Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Wegner M; Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Piao X; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts, 02115, USA.
Agrawal PB; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts, 02115, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
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Źródło :
Muscle & nerve [Muscle Nerve] 2017 May; Vol. 55 (5), pp. 761-765. Date of Electronic Publication: 2017 Feb 03.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms :
Mutation, Missense*
Cell Adhesion Molecules, Neuronal/*genetics
Charcot-Marie-Tooth Disease/*genetics
Action Potentials/physiology ; Charcot-Marie-Tooth Disease/physiopathology ; Electromyography ; Fatal Outcome ; Humans ; Infant, Newborn ; Male ; Motor Neurons/physiology ; Neural Conduction/physiology
SCR Disease Name :
Charcot-Marie-Tooth disease, Type 4E
Czasopismo naukowe
Tytuł :
Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.
Autorzy :
Bairdain S; Department of Pediatric Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Mass., USA.
Zurakowski D
Vargas SO
Stenquist N
McDonald M
Towne MC
Miller DT
Jennings RW
Kantor DB
Agrawal PB
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Źródło :
Neonatology [Neonatology] 2017; Vol. 111 (2), pp. 140-144. Date of Electronic Publication: 2016 Oct 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
DNA Copy Number Variations*
Esophageal Atresia/*complications
Esophageal Atresia/*genetics
Anal Canal/abnormalities ; Boston ; Down Syndrome/epidemiology ; Esophageal Atresia/classification ; Esophagus/abnormalities ; Female ; Heart Defects, Congenital/epidemiology ; Humans ; Infant ; Infant, Newborn ; Kidney/abnormalities ; Limb Deformities, Congenital/epidemiology ; Male ; Microarray Analysis ; Retrospective Studies ; Spine/abnormalities ; Trachea/abnormalities ; Tracheoesophageal Fistula/epidemiology
SCR Disease Name :
VACTERL association
Czasopismo naukowe
Tytuł :
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.
Autorzy :
Palmer S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Pearl PL; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Pelletier RC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Shi J; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong SAR.
Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address: .
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Źródło :
Pediatric neurology [Pediatr Neurol] 2016 Nov; Vol. 64, pp. 77-79. Date of Electronic Publication: 2016 Jul 28.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms :
Diet, Ketogenic*
Epilepsies, Myoclonic/*diet therapy
Epilepsies, Myoclonic/*genetics
GABA Plasma Membrane Transport Proteins/*genetics
Child ; Female ; Humans ; Models, Molecular ; Mutation
Czasopismo naukowe
Tytuł :
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Autorzy :
Smedemark-Margulies N; Division of Immunology, Harvard Medical School, Boston, Massachusetts 02115, USA;; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Brownstein CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA;
Vargas S; Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Tembulkar SK; Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Towne MC; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Shi J; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong SAR, China;
Gonzalez-Cuevas E; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Liu KX; Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut 06511, USA;
Kleiman RJ; Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA;; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Han MJ; Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA;; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Torres A; Division of Pediatric Neurology, Boston Medical Center and Boston University School of Medicine, Boston, Massachusetts 02118, USA;
Berry GT; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;
Yu TW; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA;
Beggs AH; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA;
Agrawal PB; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;
Gonzalez-Heydrich J; Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02115, USA.
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Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2016 Sep; Vol. 2 (5), pp. a001008.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.
Autorzy :
Lacy JN; Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA;
Ulirsch JC; Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA;
Grace RF; Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;
Towne MC; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;
Hale J; New York Blood Center, New York, New York 10065, USA;
Mohandas N; New York Blood Center, New York, New York 10065, USA;
Lux SE 4th; Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;
Agrawal PB; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA;; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Sankaran VG; Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA;
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Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2016 Jul; Vol. 2 (4), pp. a000885.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Autorzy :
Brownstein CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
Kleiman RJ; Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts.; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Engle EC; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland.
Towne MC; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
D'Angelo EJ; Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.; Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
Yu TW; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
Beggs AH; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
Fogler JM; Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.; Developmental Medicine Center, Boston Children's Hospital, Boston, Massachusetts.
Carroll D; Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
Schmitt RC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Division of Psychology, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts.; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
Wolff RR; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Shen Y; Claritas Genomics, Cambridge, Massachusetts.; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut.
Lip V; Claritas Genomics, Cambridge, Massachusetts.
Bilguvar K; Department of Pathology, Harvard Medical School, Boston, Massachusetts.
Kim A; Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
Tembulkar S; Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
O'Donnell K; Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
Gonzalez-Heydrich J; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.; Department of Psychiatry, Developmental Neuropsychiatry Research Program, Boston Children's Hospital, Boston, Massachusetts.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2016 May; Vol. 170A (5), pp. 1165-73. Date of Electronic Publication: 2016 Feb 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Autistic Disorder/*genetics
Chromosomes, Human, Pair 16/*genetics
Developmental Disabilities/*genetics
Psychotic Disorders/*genetics
Schizophrenia/*genetics
Autistic Disorder/physiopathology ; Child ; Child, Preschool ; Chromosome Deletion ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Developmental Disabilities/physiopathology ; Female ; Genetic Association Studies ; Humans ; Male ; Psychotic Disorders/physiopathology ; Schizophrenia/physiopathology ; Signal Transduction
Czasopismo naukowe
Tytuł :
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
Autorzy :
Cacioppo CN; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Chandler AE; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Towne MC; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Holm IA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
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Źródło :
PloS one [PLoS One] 2016 Apr 15; Vol. 11 (4), pp. e0153597. Date of Electronic Publication: 2016 Apr 15 (Print Publication: 2016).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genetic Counseling/*methods
Rare Diseases/*genetics
Rare Diseases/*psychology
Access to Information ; Adolescent ; Adult ; Anticipation, Psychological ; Boston ; Child ; Child, Preschool ; Emotions ; Female ; Genetic Research ; Hospitals, Pediatric ; Humans ; Male ; Middle Aged ; Parents ; Pediatrics ; Qualitative Research ; Translational Medical Research ; Young Adult
Czasopismo naukowe
Tytuł :
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Autorzy :
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. .; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. .
Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Rodan L; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Shi J; Whitehead Institute for Biomedical Research, MIT, Cambridge, MA, USA.; Department of Biomedical Sciences, City University of Hong Kong, Kowloon, Hong Kong.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Pelletier R; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Cao S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Rosenberg PA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Urion DK; Department of Neurology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Picker J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Tan WH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. .; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. .; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. .
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Źródło :
Neurogenetics [Neurogenetics] 2016 Jan; Vol. 17 (1), pp. 11-6. Date of Electronic Publication: 2015 Sep 22.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Ataxia/*genetics
Cataplexy/*genetics
Kv1.1 Potassium Channel/*genetics
Myokymia/*genetics
Adolescent ; Adult ; Child ; Female ; Genetic Heterogeneity ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; Phenotype ; Young Adult
SCR Disease Name :
Episodic Ataxia, Type 1
Czasopismo naukowe
Tytuł :
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Autorzy :
Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA;
Ciesielski SJ; Department of Biochemistry, University of Wisconsin, Madison, WI;
Schmidt PJ; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
Campagna DR; Department of Pathology, Boston Children's Hospital, Boston, MA;
Rahimov F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA;
Schilke BA; Department of Biochemistry, University of Wisconsin, Madison, WI;
Cuijpers M; Department of Internal Medicine, Viecuri Medical Centre, Venlo, The Netherlands;
Rieneck K; Department of Clinical Immunology, and.
Lausen B; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark;
Linenberger ML; Division of Hematology, University of Washington, Seattle, WA;
Sendamarai AK; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
Guo C; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
Hofmann I; Harvard Medical School, Boston, MA; Department of Pediatrics, Dana-Farber Cancer Institute-Boston Children's Center for Cancer and Blood Disorders, Boston, MA;
Newburger PE; Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA;
Matthews D; Division of Hematology, Seattle Children's Hospital, Seattle, WA;
Shimamura A; Division of Hematology, Seattle Children's Hospital, Seattle, WA;
Snijders PJ; Huisartsenteam Sint Willebrord, Sint Willebrord, The Netherlands;
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA;
Niemeyer CM; Pediatric Hematology and Oncology Department, Children's Hospital, University of Freiburg, Freiburg, Germany;
Watson HG; Department of Haematology, Aberdeen Royal Infirmary, Aberdeen, Scotland;
Dziegiel MH; Department of Clinical Immunology, and.
Heeney MM; Harvard Medical School, Boston, MA; Department of Pediatrics, Dana-Farber Cancer Institute-Boston Children's Center for Cancer and Blood Disorders, Boston, MA;
May A; Department of Haematology, Cardiff University School of Medicine, Heath Park, Cardiff, Wales;
Bottomley SS; Department of Medicine, Hematology-Oncology Section, University of Oklahoma College of Medicine, Oklahoma City, OK; and.
Swinkels DW; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
Markianos K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA;
Craig EA; Department of Biochemistry, University of Wisconsin, Madison, WI;
Fleming MD; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
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Źródło :
Blood [Blood] 2015 Dec 17; Vol. 126 (25), pp. 2734-8. Date of Electronic Publication: 2015 Oct 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Anemia, Sideroblastic/*genetics
Genetic Diseases, X-Linked/*genetics
HSP70 Heat-Shock Proteins/*genetics
Mitochondrial Proteins/*genetics
Adult ; Aged ; Base Sequence ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Young Adult
SCR Disease Name :
X-linked sideroblastic anemia
Czasopismo naukowe

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