换一批
换一批The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
作者：
Karin,Weiss [1]
;
Hayley P,Lazar [2]
;
Alina,Kurolap [3]
;
Ariel F,Martinez [4]
;
Tamar,Paperna [5]
;
Lior,Cohen [6]
;
Marie F,Smeland [7]
;
Sandra,Whalen [8]
;
Solveig,Heide [9]
;
Boris,Keren [9]
;
Pauline,Terhal [10]
;
Melita,Irving [11]
;
Motoki,Takaku [2]
;
John D,Roberts [2]
;
Robert M,Petrovich [2]
;
Samantha A,Schrier Vergano [12]
;
Amy,Kenney [13]
;
Hanne,Hove [14]
;
Elizabeth,DeChene [15]
;
Shane C,Quinonez [16]
;
Estelle,Colin [17]
;
Alban,Ziegler [17]
;
Melissa,Rumple [18]
;
Mahim,Jain [19]
;
Danielle,Monteil [20]
;
Elizabeth R,Roeder [21]
;
Kimberly,Nugent [21]
;
Arie,van Haeringen [22]
;
Michael,Gambello [23]
;
Avni,Santani [15]
;
Līvija,Medne [24]
;
Bryan,Krock [15]
;
Cara M,Skraban [24]
;
Elaine H,Zackai [24]
;
Holly A,Dubbs [25]
;
Thomas,Smol [26]
;
Jamal,Ghoumid [26]
;
Michael J,Parker [27]
;
Michael,Wright [28]
;
Peter,Turnpenny [29]
;
Jill,Clayton-Smith [30]
;
Kay,Metcalfe [30]
;
Hitoshi,Kurumizaka [31]
;
Bruce D,Gelb [32]
;
Hagit,Baris Feldman [3]
;
Philippe M,Campeau [33]
;
Maximilian,Muenke [4]
;
Paul A,Wade [2]
;
Katherine,Lachlan [34]
作者单位：
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il.
[1]
Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
[2]
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.;The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
[3]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[4]
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
[5]
Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[6]
Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
[7]
UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France.
[8]
AP-HP, Département de Génétique, Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs" Hôpital de la Pitié Salpêtrière, Paris, France.
[9]
Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.
[10]
Department of Clinical Genetics, Guy's Hospital, London, UK.
[11]
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.;Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA.
[12]
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
[13]
Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
[14]
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[15]
Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.
[16]
Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
[17]
Banner Child Neurology, Glendale, AZ, USA.
[18]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.;Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA.
[19]
Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA.
[20]
Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA.
[21]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[22]
Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.
[23]
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[24]
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[25]
Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.;EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
[26]
Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
[27]
Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.
[28]
University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK.
[29]
Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.;Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
[30]
Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan.
[31]
Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[32]
Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada.
[33]
Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.
[34]
主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);染色质组装和分解(Chromatin Assembly and Disassembly);发育障碍(Developmental Disabilities);女(雌)性(Female);遗传关联研究(Genetic Association Studies);基因型(Genotype);听觉丧失(Hearing Loss);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);Mi-2型核小体重塑和脱乙酰基酶复合物(Mi-2 Nucleosome Remodeling and Deacetylase Complex);肌肉骨骼畸形(Musculoskeletal Abnormalities);突变, 误义(Mutation, Missense);表型(Phenotype);综合征(Syndrome);转录因子(Transcription Factors)
DOI
10.1038/s41436-019-0612-0
PMID
31388190
发布时间
2024-10-31
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Genetics in medicine
Genetics in medicine
389-397页
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