Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.-论文-万方医学网

第一作者： Mir Reza,Bekheirnia

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.;Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA.

作者： Mir Reza,Bekheirnia ^[1] ; Nasim,Bekheirnia ^[2] ; Matthew N,Bainbridge ^[3] ; Shen,Gu ^[4] ; Zeynep Hande,Coban Akdemir ^[4] ; Tomek,Gambin ^[4] ; Nicolette K,Janzen ^[5] ; Shalini N,Jhangiani ^[3] ; Donna M,Muzny ^[3] ; Mini,Michael ^[6] ; Eileen D,Brewer ^[6] ; Ewa,Elenberg ^[6] ; Arundhati S,Kale ^[6] ; Alyssa A,Riley ^[6] ; Sarah J,Swartz ^[6] ; Daryl A,Scott ^[7] ; Yaping,Yang ^[4] ; Poyyapakkam R,Srivaths ^[6] ; Scott E,Wenderfer ^[6] ; Joann,Bodurtha ^[8] ; Carolyn D,Applegate ^[8] ; Milen,Velinov ^[9] ; Angela,Myers ^[10] ; Lior,Borovik ^[10] ; William J,Craigen ^[7] ; Neil A,Hanchard ^[7] ; Jill A,Rosenfeld ^[4] ; Richard Alan,Lewis ^[11] ; Edmond T,Gonzales ^[5] ; Richard A,Gibbs ^[12] ; John W,Belmont ^[7] ; David R,Roth ^[5] ; Christine,Eng ^[4] ; Michael C,Braun ^[6] ; James R,Lupski ^[13] ; Dolores J,Lamb ^[14]

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.;Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. ^[3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[4] Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[5] Texas Children's Hospital, Houston, Texas, USA.;Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. ^[6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[7] Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA. ^[8] NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA. ^[9] Sanford Children's Hospital, Sioux Falls, South Dakota, USA. ^[10] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA.;Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA. ^[11] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. ^[12] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. ^[13] Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.;Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.;Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA. ^[14]

医学主题词青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);叉头转录因子类(Forkhead Transcription Factors);疾病遗传易感性(Genetic Predisposition to Disease);肝细胞核因子1β(Hepatocyte Nuclear Factor 1-beta);人类(Humans);婴儿(Infant);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);核蛋白质类(Nuclear Proteins);PAX2转录因子(PAX2 Transcription Factor);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质酪氨酸磷酸酶类(Protein Tyrosine Phosphatases);阻遏蛋白质类(Repressor Proteins);泌尿生殖系统畸形(Urogenital Abnormalities);膀胱输尿管返流(Vesico-Ureteral Reflux);青年人(Young Adult)

DOI 10.1038/gim.2016.131

PMID 27657687

发布时间 2022-12-07

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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Genetics in medicine

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Genetics in medicine

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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Genetics in medicine

相似文献

同项目论文

Genetics in medicine

相关期刊

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