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Literature DB >> 32451811

Commentary on: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.

Robert D Oates¹.

Abstract

Entities: Disease Gene

Mesh：

Year: 2020 PMID： 32451811 PMCID： PMC7311617 DOI： 10.1007/s10815-020-01834-2

Source DB: PubMed Journal: J Assist Reprod Genet ISSN： 1058-0468 Impact factor: 3.412

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7 in total

1. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.

Authors: T McCallum; J Milunsky; R Munarriz; R Carson; H Sadeghi-Nejad; R Oates
Journal: Hum Reprod Date: 2001-02 Impact factor: 6.918

2. Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Authors: Adrien Pagin; Anne Bergougnoux; Emmanuelle Girodon; Marie-Pierre Reboul; Christelle Willoquaux; Maryse Kesteloot; Caroline Raynal; Thierry Bienvenu; Mathilde Humbert; Guy Lalau; Eric Bieth
Journal: Andrology Date: 2019-12-26 Impact factor: 3.842

3. Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.

Authors: P Yuan; Z K Liang; H Liang; L Y Zheng; D Li; J Li; J Zhang; J Tian; L H Lai; K Zhang; Z Y He; Q X Zhang; W J Wang
Journal: Andrology Date: 2019-02-27 Impact factor: 3.842

4. A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.

Authors: Huan Wu; Yang Gao; Cong Ma; Qunshan Shen; Jiajia Wang; Mingrong Lv; Chunyu Liu; Huiru Cheng; Fuxi Zhu; Shixiong Tian; Nagwa Elshewy; Xiaoqing Ni; Qing Tan; Xiaofeng Xu; Ping Zhou; Zhaolian Wei; Feng Zhang; Xiaojin He; Yunxia Cao
Journal: J Assist Reprod Genet Date: 2020-04-20 Impact factor: 3.412

Commentary on: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.

1. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.

2. Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

3. Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.

4. A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.

5. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

6. Congenital absence of the vasa deferentia presenting with infertility.

7. X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.