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Wyświetlanie 1-48 z 48
Tytuł:
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
Autorzy:
Dijck, A. van
Vulto-van Silfhout, A.T.
Cappuyns, E.
Werf, I.M. van der
Mancini, G.M.
Tzschach, A.
Bernier, R.
Gozes, I.
Eichler, E.E.
Romano, C.
Lindstrand, A.
Nordgren, A.
Kvarnung, M.
Kleefstra, T.
Vries, B.B.A. de
Kury, S.
Rosenfeld, J.A.
Meuwissen, M.E.
Vandeweyer, G.
Kooy, R.F.
Bakshi, M.
Wilson, M.
Berman, Y.
Dickson, R.
Fransen, E.
Helsmoortel, C.
Ende, J. van den
Aa, N. van der
Wijdeven, M.J. van de
Rosenblum, J.
Monteiro, F.
Kok, F.
Quercia, N.
Bowdin, S.
Dyment, D.
Chitayat, D.
Alkhunaizi, E.
Boonen, S.E.
Keren, B.
Jacquette, A.
Faivre, L.
Bezieau, S.
Isidor, B.
Riess, A.
Moog, U.
Lynch, S.A.
McVeigh, T.
Elpeleg, O.
Smeland, M.F.
Fannemel, M.
Haeringen, A. van
Maas, S.M.
Veenstra-Knol, H.E.
Schouten, M.
Willemsen, M.H.
Marcelis, C.L.
Ockeloen, C.
Burgt, I. van der
Feenstra, I.
Smagt, J. van der
Jezela-Stanek, A.
Krajewska-Walasek, M.
Gonzalez-Lamuno, D.
Anderlid, B.M.
Malmgren, H.
Nordenskjold, M.
Clement, E.
Hurst, J.
Metcalfe, K.
Mansour, S.
Lachlan, K.
Clayton-Smith, J.
Hendon, L.G.
Abdulrahman, O.A.
Morrow, E.
McMillan, C.
Gerdts, J.
Peeden, J.
Vergano, S.A.S.
Valentino, C.
Chung, W.K.
Ozmore, J.R.
Bedrosian-Sermone, S.
Dennis, A.
Treat, K.
Hughes, S.S.
Safina, N.
Pichon, J.B. le
McGuire, M.
Infante, E.
Madan-Khetarpal, S.
Desai, S.
Benke, P.
Krokosky, A.
Cristian, I.
Baker, L.
Gripp, K.
Stessman, H.A.
Eichenberger, J.
Jayakar, P.
Pizzino, A.
Manning, M.A.
Slattery, L.
ADNP Consortium
Pokaż więcej
Temat:
Biology
Human medicine
ADNP
Autism
Genetics
Helsmoortel-Van der Aa syndrome
Intellectual disability
Neurodevelopmental disorder
Biological Psychiatry
Cohort
Pediatrics
medicine.medical_specialty
medicine
Hypotonia
medicine.symptom
business.industry
business
medicine.disease
Genotype-phenotype distinction
Autism spectrum disorder
Epilepsy
Article
Helsmoortel-Van der Aa Síndrome
Intellectual Disability
Neurodevelopmental Disorder
Źródło:
Biological psychiatry
Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry, 85, 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Opis pliku:
pdf; application/pdf; text/plain
Dostępność:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
Tytuł:
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Autorzy:
Szafranski, P.
Gambin, T.
Dharmadhikari, A.V.
Akdemir, K.C.
Jhangiani, S.N.
Schuette, J.
Godiwala, N.
Yatsenko, S.A.
Sebastian, J.
Madan-Khetarpal, S.
Surti, U.
Abellar, R.G.
Bateman, D.A.
Wilson, A.L.
Markham, M.H.
Slamon, J.
Santos-Simarro, F.
Palomares, M.
Nevado, J.
Lapunzina, P.
Chung, B.H.
Wong, W.L.
Chu, Y.W.
Mok, G.T.
Kerem, E.
Reiter, J.
Ambalavanan, N.
Anderson, S.A.
Kelly, D.R.
Shieh, J.
Rosenthal, T.C.
Scheible, K.
Steiner, L.
Iqbal, M.A.
McKinnon, M.L.
Hamilton, S.J.
Schlade-Bartusiak, K.
English, D.
Hendson, G.
Roeder, E.R.
DeNapoli, T.S.
Littlejohn, R.O.
Wolff, D.J.
Wagner, C.L.
Yeung, A.
Francis, D.
Fiorino, E.K.
Edelman, M.
Fox, J.
Hayes, D.A.
Janssens, S.
De Baere, E.
Menten, B.
Loccufier, A.
Vanwalleghem, L.
Moerman, P.
Sznajer, Y.
Lay, A.S.
Kussmann, J.L.
Chawla, J.
Payton, D.J.
Phillips, G.E.
Brosens, E.
Tibboel, D.
Klein, A.
Maystadt, I.
Fisher, R.
Sebire, N.
Male, A.
Chopra, M.
Pinner, J.
Malcolm, G.
Peters, G.
Arbuckle, S.
Lees, M.
Mead, Z.
Quarrell, O.
Sayers, R.
Owens, M.
Shaw-Smith, C.
Lioy, J.
McKay, E.
de Leeuw, N.
Feenstra, I.
Spruijt, L.
Elmslie, F.
Thiruchelvam, T.
Bacino, C.A.
Langston, C.
Lupski, J.R.
Sen, P.
Popek, E.
Stankiewicz, P.
Pokaż więcej
Temat:
Chromosomes, Human, Pair 16
Comparative Genomic Hybridization
Female
Forkhead Transcription Factors
Genes, Lethal
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Male
Pedigree
Persistent Fetal Circulation Syndrome
Pulmonary Alveoli
Pulmonary Veins
Sequence Deletion
Genome, Human
Genomic Imprinting
Article
Genetics(clinical)
Genetics
Chromosome 16
Alveolar capillary dysplasia
medicine.disease
medicine
Uniparental disomy
Exome sequencing
Genomic imprinting
Locus (genetics)
Molecular biology
Copy-number variation
Biology
Sanger sequencing
symbols.namesake
symbols
Źródło:
Human Genetics, 135, 569-586
Opis pliku:
application/pdf
Dostępność:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940199cff9fdefb150d9d6b25e41e0da
https://repositoriosaludmadrid.es/handle/20.500.12530/26871
Czasopismo naukowe
Tytuł:
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
Autorzy:
Gurunathan S; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Sebastian J; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Baker J; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Abdel-Hamid HZ; Department of Pediatrics, Division of Child Neurology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
West SC; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Feingold B; Department of Pediatrics and Clinical and Translational Science, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Peche V; Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
Reyes-Múgica M; Department of Pathology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Madan-Khetarpal S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Field J; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Pokaż więcej
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 970-977. Date of Electronic Publication: 2021 Dec 04.
Typ publikacji:
Case Reports; Research Support, N.I.H., Extramural
MeSH Terms:
Cardiomyopathy, Dilated*/complications
Cardiomyopathy, Dilated*/diagnosis
Cardiomyopathy, Dilated*/genetics
Myopathies, Nemaline*/diagnosis
Myopathies, Nemaline*/genetics
Myopathies, Nemaline*/pathology
Adaptor Proteins, Signal Transducing/genetics ; Homozygote ; Humans ; Infant, Newborn ; Male ; Membrane Proteins/genetics ; Muscle, Skeletal/pathology ; Mutation
Raport
Tytuł:
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Autorzy:
Okur V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77021, USA.
Chen Z; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.; Graduate School of Peking Union Medical College, 100005, Beijing, China.
Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77021, USA.
Peacock S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77021, USA.
Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Zhao L; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.
Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Calamaro E; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY, 14642, USA.
Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.
Zhao S; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.
Kelsay J; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72701, USA.
Lahr A; Department of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, 15224, USA.
Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, M5T 3M6, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, M5B 1A6, Canada.; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, M5G 1X5, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, M5G 1X5, Canada.
Porter HM; Rare Disease Institute, Children's National Hospital, Washington, DC, 20010, USA.
Siemon A; Nationwide Children's Hospital (NCH) and The Ohio State University College of Medicine Section of Genetic and Genomic Medicine, Columbus, OH, 43205, USA.
Silver J; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, M5T 3L9, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada.
Svihovec S; Department of Pediatrics, University of Colorado Anschutz Medical Campus, and Children's Hospital Colorado, Aurora, CO, 80045, USA.
Fong CT; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY, 14642, USA.
Grant CL; Rare Disease Institute, Children's National Hospital, Washington, DC, 20010, USA.
Lerner-Ellis J; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, M5G 1X5, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, M5G 1X5, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A8, Canada.
Manickam K; Nationwide Children's Hospital (NCH) and The Ohio State University College of Medicine Section of Genetic and Genomic Medicine, Columbus, OH, 43205, USA.
Madan-Khetarpal S; Department of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, 15224, USA.
McCandless SE; Department of Pediatrics, University of Colorado Anschutz Medical Campus, and Children's Hospital Colorado, Aurora, CO, 80045, USA.
Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, M5T 3L9, Canada.; Department of Medicine, University of Toronto, Toronto, ON, M5S 1A8, Canada.
Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72701, USA.
Berry-Kravis EM; Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL, 60612, USA.
Gates R; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Gomez-Ospina N; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Qiu G; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.
Zhang TJ; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.
Wu Z; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China.
Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77021, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77021, USA.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Eng CM; Baylor Genetics Laboratories, Houston, TX, 77021, USA.
Wu N; Department of Orthopedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 100730, Beijing, China. .
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Baylor Genetics Laboratories, Houston, TX, 77021, USA. .; Seattle Children's Hospital, Seattle, WA, 98105, USA. .; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, UW, 98105, USA. .
Pokaż więcej
Źródło:
NPJ genomic medicine [NPJ Genom Med] 2021 Dec 07; Vol. 6 (1), pp. 104. Date of Electronic Publication: 2021 Dec 07.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Autorzy:
Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY, USA.
Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Thomas A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Stong N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Mulhern MS; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Akman CI; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA.
Heinzen EL; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Yeh R; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Chong JSC; Joint CUHK-Baylor Center of Medical Genetics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Bend R; Greenwood Genetic Center, Greenwood, SC, USA.
Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA.
Lee JA; Greenwood Genetic Center, Greenwood, SC, USA.
Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, MD, USA.
Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.
Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.
Nava C; Department of Genetics, APHP Sorbonne University, Paris, France.
Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.
Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Reference Center for Intellectual Disabilities of Rare Causes, Paris, France.
Mathieu S; Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France.
Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, The Netherlands.
Madan-Khetarpal S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Infante EM; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Bluvstein J; School of Medicine, New York University, New York, NY, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Bachman K; Geisinger Medical Center, Danville, PA, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA.
Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Barnett S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ferber MJ; Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland.
Joset P; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland.
Sheehan T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Vasquez A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Monaghan KG; GeneDx, Gaithersburg, MD, USA.
Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Sands TT; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA.
Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Pokaż więcej
Źródło:
Epilepsia [Epilepsia] 2021 Jul; Vol. 62 (7), pp. e103-e109. Date of Electronic Publication: 2021 May 26.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Developmental Disabilities/*genetics
Epilepsy, Generalized/*genetics
Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Developmental Disabilities/physiopathology ; Epilepsies, Myoclonic/diagnosis ; Epilepsies, Myoclonic/etiology ; Epilepsies, Myoclonic/genetics ; Epilepsy, Generalized/diagnosis ; Epilepsy, Generalized/etiology ; Exome/genetics ; Female ; Genetic Variation ; Humans ; Infant ; Intellectual Disability/etiology ; Intellectual Disability/genetics ; Male ; Mutation/genetics ; Phenotype ; Status Epilepticus/diagnosis ; Status Epilepticus/etiology ; Status Epilepticus/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Autorzy:
Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Rosenfeld J; Baylor Genetics Laboratories, Houston, TX, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Baylor Genetics Laboratories, Houston, TX, USA.
Guo H; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Kim CN; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nordenskjold M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Gecz J; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Scatigno A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Maitz S; Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.
Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Schuhmann S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Pepper M; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Panjwani H; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Torti E; GeneDX, Gaithersburg, MD, USA.
Abid F; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Anselm I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Atwal P; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, FL, USA.
Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bhat G; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Cobian K; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.
Friedman J; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA, USA.
Wright MS; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Callewaert B; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
Petit F; Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.
Mathieu S; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Afenjar A; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Christensen CK; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
White KM; Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.
Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
Berger I; Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.; Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.
Espineli EJ; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Hansen LK; H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.
Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
Hughes S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Thiffault I; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.
Sullivan B; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Yan S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Keller K; Oregon Health & Science University, Corvallis, OR, USA.
Keren B; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Mignot C; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Basinger A; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Kukolich M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Philips M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Ortega L; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Drummond-Borg M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Lauridsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Sorensen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada.
Lopez-Rangel E; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Division of Developmental Pediatrics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.
Levy P; Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY, USA.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lotze T; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
Madan-Khetarpal S; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Sebastian J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vento J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vats D; Kaiser Permanente Southern California, Los Angeles, CA, USA.
Benman LM; The Permanente Medical Group, Oakland, CA, USA.
Mckee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Muss C; Al Dupont Hospital for Children, Wilmington, DE, USA.
Pappas J; NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.
Peeters H; Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
Romano C; Oasi Research Institute-IRCCS, Troina, Italy.
Elia M; Oasi Research Institute-IRCCS, Troina, Italy.
Galesi O; Oasi Research Institute-IRCCS, Troina, Italy.
Simon MEH; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
Simpson K; Rare Disease Institute, Children's National Health System, Washington, DC, USA.
Stratton R; Department of Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Syed S; Department of Pediatric Gastroenterology, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Thevenon J; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebrón, Barcelona, Spain.
Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.
Vitobello A; UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
Bournez M; Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Faivre L; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Earl RK; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Nowakowski T; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
Bernier RA; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. .; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. .
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Corporate Authors:
CAUSES Study
SPARK Consortium
Źródło:
Genome medicine [Genome Med] 2021 Apr 19; Vol. 13 (1), pp. 63. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Heterogeneous-Nuclear Ribonucleoproteins/*genetics
Mutation/*genetics
Neurodevelopmental Disorders/*genetics
Brain/metabolism ; DNA Copy Number Variations/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Variation ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Humans ; Inheritance Patterns/genetics ; Mutation, Missense/genetics ; Phenotype ; RNA Processing, Post-Transcriptional/genetics ; Single-Cell Analysis
Czasopismo naukowe
Tytuł:
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Autorzy:
Liao J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Coffman KA; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Locker J; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Padiath QS; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Nmezi B; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Filipink RA; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Sathanoori M; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Madan-Khetarpal S; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
McGuire M; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Moran R; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Friedman N; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH, USA.
Hoffner L; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Rajkovic A; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Yatsenko SA; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Surti U; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Apr; Vol. 9 (4), pp. e1647. Date of Electronic Publication: 2021 Mar 05.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Regulatory Sequences, Nucleic Acid*
Chorea/*genetics
Thyroid Nuclear Factor 1/*genetics
Adolescent ; Child ; Chorea/pathology ; Chromosomes, Human, Pair 14/genetics ; Conserved Sequence ; Female ; Humans ; Male ; Pedigree ; Sequence Deletion
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:
Copy number alterations involving 59 ACMG-recommended secondary findings genes.
Autorzy:
Yatsenko SA; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Aarabi M; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Hu J; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Surti U; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Ortiz D; Department of Medical Genetics, Childrens Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
Madan-Khetarpal S; Department of Medical Genetics, Childrens Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
Saller DN; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Bellissimo D; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Rajkovic A; Department of Pathology, University of California San Francisco, San Francisco, California, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA.
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Źródło:
Clinical genetics [Clin Genet] 2020 Dec; Vol. 98 (6), pp. 577-588. Date of Electronic Publication: 2020 Oct 10.
Typ publikacji:
Journal Article
MeSH Terms:
Cytogenetic Analysis*
Genomics*
DNA Copy Number Variations/*genetics
Whole Exome Sequencing/*trends
Adolescent ; Adult ; Child ; Child, Preschool ; Exome/genetics ; Female ; Genetic Testing/trends ; Genetics, Medical/trends ; Genome, Human ; Humans ; Infant ; Male ; Microarray Analysis/trends ; Polymorphism, Single Nucleotide/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Autorzy:
Montenegro-Garreaud X; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; División de Investigación, Instituto de Medicina Genética, Lima, Perú.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Hansen AW; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Chander V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jiang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Kessler E; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Jayaseelan J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Shen H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Madan-Khetarpal S; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
Abarca-Barriga H; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Facultad de Ciencias de la Salud, Medicina Humana, Universidad Científica del Sur, Lima, Perú.
Trubnykova M; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Area Preclínica, Facultad de Ciencias de la Salud, Universidad Peruana de Ciencias Aplicadas, Lima, Perú.
Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.
Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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Źródło:
Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2094-2104. Date of Electronic Publication: 2020 Oct 08.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Genes, Dominant*
Genetic Predisposition to Disease*
Kinesins/*genetics
Mutation/*genetics
Child ; Child, Preschool ; Family ; Female ; Humans ; Male ; Pedigree ; Peru ; Phenotype
Czasopismo naukowe
Tytuł:
Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.
Autorzy:
Davis AA; Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.
Haredy MM; Department of Plastic Surgery, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh Pa.; Plastic Surgery Department, Cleft and Craniofacial Unit, Sohag University Hospital, Sohag, Egypt.
Huey J; Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.
Scanga H; Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.
Zuccoli G; Department of Radiology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Pollack IF; Department of Neurosurgery, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.
Tamber MS; Department of Neurosurgery, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.; †Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.
Goldstein J; Department of Plastic Surgery, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh Pa.
Madan-Khetarpal S; UBC Department of Surgery, Division of Neurosurgery, BC Children's Hospital, Vancouver, British Columbia.
Nischal KK; Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.; ‡UPMC Eye center, University of Pittsburgh Medical Center, Pittsburgh, Pa.
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Źródło:
Plastic and reconstructive surgery. Global open [Plast Reconstr Surg Glob Open] 2019 Dec 30; Vol. 7 (12), pp. e2540. Date of Electronic Publication: 2019 Dec 30 (Print Publication: 2019).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
RASopathy in Patients With Isolated Sagittal Synostosis.
Autorzy:
Davis AA; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Zuccoli G; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Haredy MM; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Losee J; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Pollack IF; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Goldstein JA; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Nischal KK; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
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Źródło:
Global pediatric health [Glob Pediatr Health] 2019 May 12; Vol. 6, pp. 2333794X19846774. Date of Electronic Publication: 2019 May 12 (Print Publication: 2019).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Infant Botulism in the Very Young Neonate: A Case Series.
Autorzy:
Jackson L; Division of Newborn Medicine, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Naik M; Division of Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Michaels MG; Division of Infectious Disease, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Riley M; Division of Newborn Medicine, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
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Źródło:
AJP reports [AJP Rep] 2017 Jul; Vol. 7 (3), pp. e163-e166. Date of Electronic Publication: 2017 Jul 31.
Typ publikacji:
Case Reports
Raport
Tytuł:
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Autorzy:
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Madan-Khetarpal S
Serrano Russi AH
Kochmar S
Deward SJ
Sathanoori M
Surti U
Pokaż więcej
Źródło:
Genetics research international [Genet Res Int] 2011; Vol. 2011, pp. 185271. Date of Electronic Publication: 2011 Jul 17.
Typ publikacji:
Case Reports
Raport
Tytuł:
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Autorzy:
Ballif BC; Signature Genomic Laboratories, LLC, Spokane, WA, USA. .
Theisen A
Coppinger J
Gowans GC
Hersh JH
Madan-Khetarpal S
Schmidt KR
Tervo R
Escobar LF
Friedrich CA
McDonald M
Campbell L
Ming JE
Zackai EH
Bejjani BA
Shaffer LG
Pokaż więcej
Źródło:
Molecular cytogenetics [Mol Cytogenet] 2008 Apr 28; Vol. 1, pp. 8. Date of Electronic Publication: 2008 Apr 28.
Typ publikacji:
Journal Article
Czasopismo naukowe
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