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Tytuł :
The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.
Autorzy :
Johnson DL; School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Abdala Villa C; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Lustig MC; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep 02. Date of Electronic Publication: 2021 Sep 02.
Typ publikacji :
Case Reports
Raport
Tytuł :
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Autorzy :
Thorpe RK; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Wu P; Department of Otolaryngology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
Wang Q; College of Otolaryngology Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Beijing, 100853, China.
Xu L; Shandong Provincial ENT Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Dai P; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.
Yang T; Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Schaefer GB; University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Peters BR; Dallas Ear Institute, Dallas Hearing Foundation, Dallas, TX, USA.
Chan KH; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, CO, USA.
Schatz KS; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Bodurtha J; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Hirsch Y; Dor Yeshorim, The Committee of Preventing Jewish Genetic Diseases, Brooklyn, NY, USA.
Rahbeeni ZA; Medical Genetics Department, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
Yuan H; Medical Genetics Center, Southwest Hospital, Army Medical University, Chongqing, China. .
Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. .; Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, IA, USA. .
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Źródło :
Human genetics [Hum Genet] 2021 Aug 23. Date of Electronic Publication: 2021 Aug 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Genetic testing hearing loss: The challenge of non syndromic mimics.
Autorzy :
Gooch C; Department of Genetics, University of Alabama at Birmingham, USA; Department of Pediatrics, University of Alabama at Birmingham, USA.
Rudy N; Department of Genetics, University of Alabama at Birmingham, USA.
Smith RJ; Department of Otolaryngology-Head & Neck Surgery, Interdepartmental PhD Program in Genetics, University of Iowa College of Medicine, Iowa City, IA, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, USA; Department of Pediatrics, University of Alabama at Birmingham, USA. Electronic address: .
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Źródło :
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2021 Aug 16; Vol. 150, pp. 110872. Date of Electronic Publication: 2021 Aug 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Choose your words carefully.
Autorzy :
Robin NH; Departments of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jul; Vol. 185 (7), pp. 1953. Date of Electronic Publication: 2021 Apr 08.
Typ publikacji :
Editorial
Opinia redakcyjna
Tytuł :
Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.
Autorzy :
Soto E; From the University of Alabama at Birmingham School of Medicine, Birmingham, AL.
Ananthasekar S; From the University of Alabama at Birmingham School of Medicine, Birmingham, AL.
Kurapati S; Division of Plastic Surgery, Baylor College of Medicine, Houston, TX.
Robin NH; Department of Genetics, University of Alabama at Birmingham School of Medicine.
Smola C; Divisions of Pediatric Hospital Medicine.
Maddox MH; Pediatric Pulmonary & Sleep Medicine, University of Alabama at Birmingham, Birmingham, AL.
Boyd CJ; Division of Plastic Surgery, New York University, New York, NY.
Myers RP; Division of Plastic Surgery, University of Alabama at Birmingham, Birmingham, AL.
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Źródło :
Annals of plastic surgery [Ann Plast Surg] 2021 Jun 01; Vol. 86 (6S Suppl 5), pp. S545-S549.
Typ publikacji :
Journal Article
MeSH Terms :
Airway Obstruction*
Osteogenesis, Distraction*
Pierre Robin Syndrome*/complications
Pierre Robin Syndrome*/surgery
Humans ; Infant ; Mandible/surgery ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
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 :
Editorial: Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom.
Autorzy :
Shur N; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, District of Columbia.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
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Źródło :
Current opinion in pediatrics [Curr Opin Pediatr] 2021 Feb 01; Vol. 33 (1), pp. 1-2.
Typ publikacji :
Editorial
MeSH Terms :
Child Abuse*/diagnosis
Genetics, Medical*
Child ; Expert Testimony ; Humans
Opinia redakcyjna
Tytuł :
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Autorzy :
Verberne EA; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Goh S; Department of Clin Genet, Liverpool Hospital, Sydney, Australia.
England J; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
van Ginkel M; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba.
Rafael-Croes L; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba.
Maas S; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Polstra A; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Bosanko KA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Bedoukian E; Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Izumi K; Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Robin NH; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA.
Boothe M; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA.
Lippa NC; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Lehman A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Study C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Stockler S; Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), CHU Dijon-Bourgogne, Dijon, France.
Isidor B; Service de génétique médicale, CHU de Nantes, Nantes, France.
Lemons J; Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA.
Rodriguez-Buritica DF; Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA.
Richmond CM; Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; School of Medicine, Griffith University, Gold Coast, QLD, Australia.
Stark Z; Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Agrawal PB; Divisions of Newborn Medicine and Genetics & Genomics, Department of Pediatrics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Meuwissen MEC; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
Koolen DA; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Pfundt R; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Lieden A; Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.; Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden.
Anderlid BM; Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.; Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden.
Glatz D; Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada.
Mannens MMAM; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
Bakshi M; Department of Clin Genet, Liverpool Hospital, Sydney, Australia.
Mallette FA; Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada.
van Haelst MM; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands. .
Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 374-383. Date of Electronic Publication: 2020 Oct 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Neurodevelopmental Disorders*/diagnosis
Neurodevelopmental Disorders*/genetics
Haploinsufficiency/genetics ; Heterozygote ; Humans ; Phenotype ; Polycomb Repressive Complex 2/genetics ; Syndrome ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach.
Autorzy :
Shur N; George Washington University School of Medicine and Health Sciences.; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital.
Summerlin ML; George Washington University School of Medicine and Health Sciences.
Robin NH; Department of Genetics, University of Alabama at Birmingham.
Moreno-Mendelson A; Carleton College (2018).
Shalaby-Rana E; George Washington University School of Medicine and Health Sciences.; Diagnostic Imaging and Radiology.
Hinds T; George Washington University School of Medicine and Health Sciences.; Child & Adolescent Protection Center, Children's National Hospital, Washington DC.
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Źródło :
Current opinion in pediatrics [Curr Opin Pediatr] 2021 Feb 01; Vol. 33 (1), pp. 3-18.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Child Abuse*/diagnosis
Child ; Child, Preschool ; Hemorrhage ; Humans ; Infant ; Medical History Taking ; Physical Examination ; Referral and Consultation
Czasopismo naukowe
Tytuł :
Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS).
Autorzy :
Morris RE; Retina Specialists of Alabama, Birmingham, AL, USA.; Helen Keller Foundation for Research and Education, Birmingham, AL, USA.; University of Alabama at Birmingham (UAB), Department of Ophthalmology, Birmingham, AL, USA.; UAB Callahan Eye Hospital, Birmingham, AL, USA.
Parma ES; Retina Specialists of Alabama Montgomery, Montgomery, AL, USA.
Robin NH; UAB Department of Genetics, Birmingham, AL, USA.
Sapp MR; Retina Specialists of Alabama, Birmingham, AL, USA.; Helen Keller Foundation for Research and Education, Birmingham, AL, USA.; University of Alabama at Birmingham (UAB), Department of Ophthalmology, Birmingham, AL, USA.; UAB Callahan Eye Hospital, Birmingham, AL, USA.
Oltmanns MH; Retina Specialists of Alabama, Birmingham, AL, USA.; Helen Keller Foundation for Research and Education, Birmingham, AL, USA.; University of Alabama at Birmingham (UAB), Department of Ophthalmology, Birmingham, AL, USA.; UAB Callahan Eye Hospital, Birmingham, AL, USA.
West MR; Retina Specialists of Alabama, Birmingham, AL, USA.; Helen Keller Foundation for Research and Education, Birmingham, AL, USA.; University of Alabama at Birmingham (UAB), Department of Ophthalmology, Birmingham, AL, USA.; UAB Callahan Eye Hospital, Birmingham, AL, USA.
Fletcher DC; University of Kansas Medical Center, Department of Ophthalmology and KU Eye Center, Kansas City, KS, USA.; Retina Consultants of Southwest Florida, Ft. Myers, FL, USA.
Schuchard RA; Envision Research Institute, Wichita, KS, USA.
Kuhn F; Helen Keller Foundation for Research and Education, Birmingham, AL, USA.; Milos Eye Hospital, Belgrade, Serbia.; University of Pécs, Department of Ophthalmology, Pécs, Hungary.
Pokaż więcej
Źródło :
Clinical ophthalmology (Auckland, N.Z.) [Clin Ophthalmol] 2021 Jan 06; Vol. 15, pp. 19-29. Date of Electronic Publication: 2021 Jan 06 (Print Publication: 2021).
Typ publikacji :
Case Reports
Raport
Tytuł :
Dysmorphology in the Era of Genomic Diagnosis.
Autorzy :
Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35243, USA.; Department of Pediatrics University of Alabama at Birmingham, Birmingham, AL 35243, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35243, USA.; Department of Pediatrics University of Alabama at Birmingham, Birmingham, AL 35243, USA.; Department of Surgery/Otolaryngology, University of Alabama at Birmingham, Birmingham, AL 35243, USA.
Pokaż więcej
Źródło :
Journal of personalized medicine [J Pers Med] 2020 Mar 17; Vol. 10 (1). Date of Electronic Publication: 2020 Mar 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
Autorzy :
Dhir A; Pediatric Hematology Oncology, University of Alabama at Birmingham, Birmingham, Alabama.
Li R; Division of Pathology, Children's of Alabama, Birmingham, Alabama.
Li G; Division of Pathology, Children's of Alabama, Birmingham, Alabama.
Dean J; Clinical Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Robin NH; Clinical Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Alva E; Pediatric Hematology Oncology, University of Alabama at Birmingham, Birmingham, Alabama.
Pokaż więcej
Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2020 Mar; Vol. 67 (3), pp. e28116. Date of Electronic Publication: 2019 Dec 18.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Mutation*
BRCA1 Protein/*genetics
Carcinoma, Renal Cell/*pathology
Neoplasms, Multiple Primary/*pathology
Oligodendroglioma/*complications
Osteosarcoma/*pathology
Adolescent ; Adult ; Bone Neoplasms/epidemiology ; Bone Neoplasms/genetics ; Bone Neoplasms/pathology ; Carcinoma, Renal Cell/epidemiology ; Carcinoma, Renal Cell/genetics ; Combined Modality Therapy ; Humans ; Incidence ; Kidney Neoplasms/epidemiology ; Kidney Neoplasms/genetics ; Kidney Neoplasms/pathology ; Male ; Neoplasms, Multiple Primary/epidemiology ; Neoplasms, Multiple Primary/genetics ; Oligodendroglioma/therapy ; Osteosarcoma/epidemiology ; Osteosarcoma/genetics ; Prognosis
Raport
Tytuł :
The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.
Autorzy :
Perry TJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama.
Patton SI; School of Medicine, The University of Alabama at Birmingham, Birmingham, Alabama.
Farmer MB; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama.
Hurst CB; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama.
McGwin G; School of Public Health, Department of Epidemiology, The University of Alabama at Birmingham, Birmingham, Alabama.
Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 314-321. Date of Electronic Publication: 2019 Dec 08.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Duty to Warn/*ethics
Genetic Counseling/*psychology
Physicians/*psychology
Confidentiality/psychology ; Disclosure ; Family/psychology ; Genetic Counseling/ethics ; Genetic Testing/standards ; Genetics, Medical/ethics ; Guidelines as Topic ; Humans ; Risk Factors
Czasopismo naukowe
Tytuł :
Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.
Autorzy :
Gooch C; The Department of Genetics.; The Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Robin NH; The Department of Genetics.; The Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Hurst ACE; The Department of Genetics.; The Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Pokaż więcej
Źródło :
Current opinion in pediatrics [Curr Opin Pediatr] 2019 Dec; Vol. 31 (6), pp. 691-693.
Typ publikacji :
Editorial
MeSH Terms :
Achondroplasia*/diagnosis
Achondroplasia*/surgery
Practice Guidelines as Topic*
Humans ; Infant, Newborn
Opinia redakcyjna
Tytuł :
Teaching dysmorphology in the era of genomics: new technologies, new learners.
Autorzy :
Robin NH; Departments of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Pokaż więcej
Źródło :
Current opinion in pediatrics [Curr Opin Pediatr] 2018 Dec; Vol. 30 (6), pp. 699-700.
Typ publikacji :
Editorial
MeSH Terms :
Congenital Abnormalities*/genetics
Genomics/*education
Child Development ; Disease Management ; Genetic Counseling ; Genomics/trends ; Humans ; Infant ; Infant, Newborn ; Learning ; Practice Patterns, Physicians'
Opinia redakcyjna
Tytuł :
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
Autorzy :
Upadia J; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Gonzales PR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Atkinson TP; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Schroeder HW; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2791-2797. Date of Electronic Publication: 2018 Sep 14.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Phenotype*
B-Cell Activation Factor Receptor/*genetics
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Transcription Factors/*genetics
Alleles ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Female ; Genetic Association Studies ; Humans ; Infant ; Mutation
SCR Disease Name :
Telomeric 22q13 Monosomy Syndrome
Czasopismo naukowe
Tytuł :
Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
Autorzy :
Upadia J; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Gonzales PR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Jun; Vol. 176 (6), pp. 1423-1426. Date of Electronic Publication: 2018 Apr 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
COUP Transcription Factor II/*genetics
Face/*abnormalities
Heart Defects, Congenital/*genetics
Developmental Disabilities/genetics ; Humans ; Infant ; Male
Czasopismo naukowe
Tytuł :
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Autorzy :
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Smith-Hicks CL; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Greene C; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.
Abbott MA; Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts.
Siu VM; Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.
Calhoun ARUL; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.
Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Li C; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.
Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Kaylor J; InformedDNA, St. Petersburg, Florida.
Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut Health Center, Farmington, Connecticut.
Basinger A; Cook Children's Physician Network, Fort Worth, Texas.
Slavotinek AM; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.
Perry H; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.
Saenz M; Children's Hospital Colorado, Aurora, Colorado.
Szybowska M; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.
Wilson LC; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.
Kumar A; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.
Brain C; Department of Endocrinology, Great Ormond Street for Children NHS Foundation Trust, London, UK.
Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Dubbs H; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Ortiz-Gonzalez XR; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Stein Q; Divisions of Pediatric Neurology and Genetics, Sanford Children's Specialty Clinic, Sanford Children's Hospital, Sioux Falls, South Dakota.
Powell CM; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Schrier Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Britt A; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Sun A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.
Smith W; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine.
Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.
Picker J; Boston Children's Hospital, Boston, Massachusetts.
Kirby A; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.
Pinz H; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.
Bombei H; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.
Mahida S; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Cohen JS; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Fatemi A; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Vernon HJ; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
McClellan R; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Fleming LR; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.
Knyszek B; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.
Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Velasco Gonzalez C; Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.
Golden-Grant KL; Seattle Children's Hospital, Seattle, Washington.
Egense A; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.
Parikh A; University of Toledo Department of Pediatrics, Toledo, Ohio.; University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Genetics and Genome Sciences Case Western Reserve University School of Medicine, Cleveland, Ohio.
Raimondi C; Advocate Children's Hospital, Park Ridge, Illinois.
Angle B; Advocate Children's Hospital, Park Ridge, Illinois.
Allen W; Fullerton Genetics Center, Asheville, North Carolina.
Schott S; Fullerton Genetics Center, Asheville, North Carolina.
Algrabli A; FDNA, Inc., Boston, Massachusetts.
Robin NH; University of Alabama at Birmingham, Birmingham, Alabama.
Ray JW; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Everman DB; Greenwood Genetic Center, Greenwood, South Carolina.
Gambello MJ; Emory University School of Medicine, Atlanta, Georgia.
Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, New York.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Apr; Vol. 176 (4), pp. 925-935. Date of Electronic Publication: 2018 Feb 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Genotype*
Phenotype*
Matrix Attachment Region Binding Proteins/*genetics
Transcription Factors/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Facies ; Female ; Humans ; Infant ; Inheritance Patterns ; Male ; Polymorphism, Single Nucleotide ; Syndrome ; Young Adult
Czasopismo naukowe
Tytuł :
A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.
Autorzy :
Upadia J; Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.
Philips JB 3rd; Department of Pediatrics University of Alabama at Birmingham Birmingham Alabama USA.
Robin NH; Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.
Lose EJ; Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.
Mikhail FM; Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.
Pokaż więcej
Źródło :
Clinical case reports [Clin Case Rep] 2018 Feb 14; Vol. 6 (4), pp. 612-616. Date of Electronic Publication: 2018 Feb 14 (Print Publication: 2018).
Typ publikacji :
Case Reports
Raport
Tytuł :
Programme directors' opinions on medical genetics education in pediatric residency programmes.
Autorzy :
Hamm JA; aDepartment of Genetics bDepartment of Pediatrics cDepartment of Otolaryngology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Nichols MH
Robin NH
Pokaż więcej
Źródło :
Current opinion in pediatrics [Curr Opin Pediatr] 2017 Dec; Vol. 29 (6), pp. 619-621.
Typ publikacji :
Editorial
MeSH Terms :
Attitude of Health Personnel*
Faculty, Medical*
Education, Medical, Graduate/*methods
Genetics, Medical/*education
Internship and Residency/*methods
Pediatrics/*education
Education, Medical, Graduate/statistics & numerical data ; Humans ; Internship and Residency/statistics & numerical data ; Surveys and Questionnaires ; United States
Opinia redakcyjna

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