Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

P2860

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P2860

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Whole-exome sequencing for pre ...... the kidney and urinary tract.

@en

Whole-exome sequencing for pre ...... the kidney and urinary tract.

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type

Item

label

Whole-exome sequencing for pre ...... the kidney and urinary tract.

@en

Whole-exome sequencing for pre ...... the kidney and urinary tract.

@nl

prefLabel

Whole-exome sequencing for pre ...... the kidney and urinary tract.

@en

Whole-exome sequencing for pre ...... the kidney and urinary tract.

@nl

P1476

Whole-exome sequencing for pre ...... the kidney and urinary tract.

@en

P2093

Can Liao

http://www.w3.org/2001/XMLSchema#string

Dan Wang

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Dong-Zhi Li

http://www.w3.org/2001/XMLSchema#string

Fang Fu

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Qiong Deng

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Rong-Yue Wang

http://www.w3.org/2001/XMLSchema#string

Ru Li

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Ting-Ying Lei

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Xiang-Yi Jing

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Xin Yang

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P2860

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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1665-1675

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scholarly article

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10.1093/NDT/GFX031

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English

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2017-04-06T00:00:00Z

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28387813

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Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.

about

P2860

P2860

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698