换一批
换一批Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
作者：
Parisa,Hemati [1]
;
Anya,Revah-Politi [1]
;
Haim,Bassan [2]
;
Slavé,Petrovski [1]
;
Colleen G,Bilancia [3]
;
Keri,Ramsey [4]
;
Nicole G,Griffin [5]
;
Louise,Bier [1]
;
Megan T,Cho [1]
;
Monica,Rosello [6]
;
Sally Ann,Lynch [7]
;
Sophie,Colombo [8]
;
Astrid,Weber [1]
;
Marte,Haug [9]
;
Erin L,Heinzen [10]
;
Tristan T,Sands [1]
;
Vinodh,Narayanan [1]
;
Michelle,Primiano [5]
;
Vimla S,Aggarwal [11]
;
Francisca,Millan [1]
;
Shannon G,Sattler-Holtrop [4]
;
Alfonso,Caro-Llopis [6]
;
Nir,Pillar [12]
;
Janice,Baker [13]
;
Rebecca,Freedman [7]
;
Hester Y,Kroes [2]
;
Stephanie,Sacharow [14]
;
Nick,Stong [15]
;
Pablo,Lapunzina [16]
;
Michael C,Schneider [17]
;
Nancy J,Mendelsohn [18]
;
Amanda,Singleton [1]
;
Valerie,Loik Ramey [19]
;
Karen,Wou [20]
;
Alla,Kuzminsky [12]
;
Sandra,Monfort [21]
;
Monica,Weiss [14]
;
Samantha,Doyle [6]
;
Alejandro,Iglesias [18]
;
Francisco,Martinez [22]
;
Fiona,Mckenzie [23]
;
Carmen,Orellana [7]
;
Koen L I,van Gassen [2]
;
Maria,Palomares [8]
;
Lily,Bazak [22]
;
Andy,Lee [7]
;
Ana,Bircher [15]
;
Lina,Basel-Vanagaite [16]
;
Maria,Hafström [7]
;
Gunnar,Houge [17]
;
C4RCD Research Group [19]
;
DDD study [20]
;
David B,Goldstein [2]
;
Kwame,Anyane-Yeboa [24]
作者单位：
Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
[1]
Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[2]
Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia.
[3]
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.
[4]
Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
[5]
GeneDx, Gaithersburg, Maryland.
[6]
Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.
[7]
Temple Street Children's University Hospital, Dublin, Ireland.
[8]
Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool, United Kingdom.
[9]
Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway.
[10]
Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York.
[11]
Carle Physician Group, Urbana, Illinois.
[12]
Department of Genetics, Le Bonheur Children's Hospital, Memphis, Tennessee.
[13]
Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
[14]
Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
[15]
School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
[16]
Department of Genetics, University Medical Center Utrecht, The Netherlands.
[17]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
[18]
INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.
[19]
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain.
[20]
Biochemical Genetics, Neurology Division, St Christopher's Hospital for Children, Philadelphia, Pennsylvania.
[21]
Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.
[22]
Child development Center, Clalit Health Service, Netanya, Israel.
[23]
Brentwood Children's Clinic, Brentwood, Tennessee.
[24]
Inner Vision Women's Ultrasound & Genetics, Nashville, Tennessee.
[25]
Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
[26]
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[27]
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
[28]
Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
[29]
Department of Pediatrics, St Olav's Hospital, Trondheim, Norway.
[30]
Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.
[31]
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
[32]
DDD Study, Wellcome Trust Sanger Institute, Hinxton, United Kingdom.
[33]
主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);癫痫(Epilepsy);女(雌)性(Female);GTP结合蛋白质β亚单位(GTP-Binding Protein beta Subunits);遗传关联研究(Genetic Association Studies);人类(Humans);男(雄)性(Male);突变(Mutation);神经系统(Nervous System);表型(Phenotype);妊娠(Pregnancy);蛋白质结构, 三级(Protein Structure, Tertiary)
DOI
10.1002/ajmg.a.40472
PMID
30194818
发布时间
2020-09-30
- 浏览4
American journal of medical genetics. Part A
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