换一批
第一作者：
Clare V,Logan
第一单位：
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
作者：
Clare V,Logan [1]
;
Jennie E,Murray [2]
;
David A,Parry [1]
;
Andrea,Robertson [1]
;
Roberto,Bellelli [3]
;
Žygimantė,Tarnauskaitė [1]
;
Rachel,Challis [4]
;
Louise,Cleal [4]
;
Valerie,Borel [3]
;
Adeline,Fluteau [1]
;
Javier,Santoyo-Lopez [5]
;
SGP Consortium [6]
;
Tim,Aitman [7]
;
Inês,Barroso [8]
;
Donald,Basel [9]
;
Louise S,Bicknell [10]
;
Himanshu,Goel [11]
;
Hao,Hu [11]
;
Chad,Huff [12]
;
Michele,Hutchison [13]
;
Caroline,Joyce [14]
;
Rachel,Knox [15]
;
Amy E,Lacroix [16]
;
Sylvie,Langlois [17]
;
Shawn,McCandless [8]
;
Julie,McCarrier [18]
;
Kay A,Metcalfe [19]
;
Rose,Morrissey [20]
;
Nuala,Murphy [21]
;
Irène,Netchine [20]
;
Susan M,O'Connell [15]
;
Ann Haskins,Olney [22]
;
Nandina,Paria [23]
;
Jill A,Rosenfeld [24]
;
Mark,Sherlock [8]
;
Erin,Syverson [25]
;
Perrin C,White [26]
;
Carol,Wise [11]
;
Yao,Yu [27]
;
Margaret,Zacharin [28]
;
Indraneel,Banerjee [1]
;
Martin,Reijns [29]
;
Michael B,Bober [30]
;
Robert K,Semple [3]
;
Simon J,Boulton [26]
;
Jonathan J,Rios [31]
;
Andrew P,Jackson
作者单位：
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
[1]
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address: jennie.murray@igmm.ed.ac.uk.
[2]
The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
[3]
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK.
[4]
Edinburgh Genomics Clinical Division, University of Edinburgh, The Roslin Institute, Edinburgh EH25 9RG, UK.
[5]
MRC Centre for Genomic & Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
[6]
Wellcome Sanger Institute, Cambridge CB10 1SA, UK.
[7]
Medical College of Wisconsin from Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
[8]
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
[9]
Hunter Genetics, Waratah, NSW 2305, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.
[10]
Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA.
[11]
Department of Pediatrics, University of Arkansas, Little Rock, AR 72205, USA.
[12]
Department of Clinical Biochemistry, Cork University Hospital, Cork, Ireland.
[13]
MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK.
[14]
University of Nebraska Medical Centre, Omaha, NE 68918, USA.
[15]
Department of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
[16]
Pediatric Genetics, UH Cleveland Medical Center, Cleveland, OH 44106, USA.
[17]
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester M13 9WL, UK.
[18]
Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.
[19]
UCD School of Medicine, Children's University Hospital, Temple St, Dublin, Ireland.
[20]
Sorbonne Université, INSERM, UMR_S 938, APHP, Hospital Trousseau, 75012 Paris, France.
[21]
Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.
[22]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[23]
Department of Endocrinology, Beaumont Hospital, Dublin, Ireland.
[24]
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
[25]
Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
[26]
Division of Medicine, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
[27]
Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WU, UK.
[28]
Nemours-Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
[29]
MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK.
[30]
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: andrew.jackson@igmm.ed.ac.uk.
[31]
医学主题词
青少年(Adolescent);肾上腺功能减退(Adrenal Insufficiency);成年人(Adult);等位基因(Alleles);儿童(Child);儿童, 学龄前(Child, Preschool);周期素依赖激酶抑制剂p57(Cyclin-Dependent Kinase Inhibitor p57);DNA聚合酶Ⅱ(DNA Polymerase II);DNA复制(DNA Replication);女(雌)性(Female);胎儿生长迟缓(Fetal Growth Retardation);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);骨软骨发育不良(Osteochondrodysplasias);表型(Phenotype);泌尿生殖系统畸形(Urogenital Abnormalities);青年人(Young Adult)
DOI
10.1016/j.ajhg.2018.10.024
PMID
30503519
发布时间
2022-01-29
- 浏览18
American journal of human genetics
American journal of human genetics
1038-1044页
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