Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Holtrop SG"'
Autor:
Hemati, P, Revah-Politi, A, Bassan, H, Petrovski, S, Bilancia, CG, Ramsey, K, Griffin, NG, Bier, L, Cho, MT, Rosello, M, Lynch, SA, Colombo, S, Weber, A, Haug, M, Heinzen, EL, Sands, TT, Narayanan, V, Primiano, M, Aggarwal, VS, Millan, F, Sattler-Holtrop, SG, Caro-Llopis, A, Pillar, N, Baker, J, Freedman, R, Kroes, HY, Sacharow, S, Stong, N, Lapunzina, P, Schneider, MC, Mendelsohn, NJ, Singleton, A, Ramey, VL, Wou, K, Kuzminsky, A, Monfort, S, Weiss, M, Doyle, S, Iglesias, A, Martinez, F, Mckenzie, F, Orellana, C, van Gassen, KLI, Palomares, M, Bazak, L, Lee, A, Bircher, A, Basel-Vanagaite, L, Hafstrom, M, Houge, G, Goldstein, DB, Anyane-Yeboa, K, C4RCD Res Grp, DDD Study
Publikováno v:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::486bbe5121f9c60837d0c3c89ca039a5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10064
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10064
Autor:
Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Brown CW; Le Bonheur Children's Hospital, Memphis, Tennessee.; Division of Medical Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee., Chen E; Department of Genetics, Kaiser Permanente, San Francisco, California., Holtrop SG; Le Bonheur Children's Hospital, Memphis, Tennessee., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Nieto Moreno M; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.; Jackson Memorial Hospital, Miami, Florida., Payne K; Section of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana., Raas-Rothschild A; Institute of Rare Diseases & Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Scott R; Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK., Vernon HJ; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland., Zadeh N; Genetics Center, Orange, California.; Division of Medical Genetics, Children's Hospital of Orange County, Orange, California., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jan; Vol. 182 (1), pp. 38-52. Date of Electronic Publication: 2019 Nov 29.
Autor:
Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Bassan H; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia., Bilancia CG; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Griffin NG; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Bier L; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Cho MT; GeneDx, Gaithersburg, Maryland., Rosello M; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Lynch SA; Temple Street Children's University Hospital, Dublin, Ireland., Colombo S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Weber A; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool, United Kingdom., Haug M; Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway., Heinzen EL; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Sands TT; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Primiano M; Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York., Aggarwal VS; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York., Millan F; GeneDx, Gaithersburg, Maryland., Sattler-Holtrop SG; Carle Physician Group, Urbana, Illinois.; Department of Genetics, Le Bonheur Children's Hospital, Memphis, Tennessee., Caro-Llopis A; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Pillar N; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Baker J; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota., Freedman R; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia., Kroes HY; Department of Genetics, University Medical Center Utrecht, The Netherlands., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Lapunzina P; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain., Schneider MC; Carle Physician Group, Urbana, Illinois.; Biochemical Genetics, Neurology Division, St Christopher's Hospital for Children, Philadelphia, Pennsylvania., Mendelsohn NJ; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota., Singleton A; GeneDx, Gaithersburg, Maryland., Loik Ramey V; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Wou K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York., Kuzminsky A; Child development Center, Clalit Health Service, Netanya, Israel., Monfort S; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Weiss M; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Doyle S; Temple Street Children's University Hospital, Dublin, Ireland., Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York., Martinez F; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Mckenzie F; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia., Orellana C; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, The Netherlands., Palomares M; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain., Bazak L; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Lee A; Brentwood Children's Clinic, Brentwood, Tennessee., Bircher A; Inner Vision Women's Ultrasound & Genetics, Nashville, Tennessee., Basel-Vanagaite L; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel., Hafström M; Department of Pediatrics, St Olav's Hospital, Trondheim, Norway.; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway., Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2259-2275. Date of Electronic Publication: 2018 Sep 08.