MP52-19 NOVEL MUTATIONS OF THE CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN CHINESE PATIENTS WITH CONGENITAL ABSENCE OF VAS DEFERENS

The Journal of Urology ◽

10.1016/j.juro.2015.02.1736 ◽

2015 ◽

Vol 193 (4S) ◽

Author(s):

Yan Zhang ◽

Ping Yuan ◽

Xiaojian Yang ◽

Qipeng Sun ◽

Xiao Wu ◽

...

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Congenital Absence ◽

Chinese Patients ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Novel Mutations ◽

Cystic Fibrosis Transmembrane

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Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens

Genetics in Medicine ◽

10.1097/gim.0b013e3180318aaf ◽

2007 ◽

Vol 9 (3) ◽

pp. 163-172 ◽

Author(s):

Ana Grangeia ◽

Rosália Sá ◽

Filipa Carvalho ◽

Josiane Martin ◽

Emmanuelle Girodon ◽

...

Keyword(s):

Cystic Fibrosis ◽

Molecular Characterization ◽

Vas Deferens ◽

Congenital Absence ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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Congenital Absence of the Vas Deferens and the Cystic Fibrosis Transmembrane Conductance Regulator Gene: Evidence for a Common Genetic Background

Function of Somatic Cells in the Testis ◽

10.1007/978-1-4612-2638-3_28 ◽

1994 ◽

pp. 430-437

Author(s):

Pasquale Patrizio ◽

Ricardo H. Asch

Keyword(s):

Cystic Fibrosis ◽

Genetic Background ◽

Vas Deferens ◽

Congenital Absence ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens

Gene ◽

10.1016/j.gene.2018.05.108 ◽

2018 ◽

Vol 672 ◽

pp. 64-71 ◽

Author(s):

Song Bai ◽

Qiang Du ◽

Xiaoliang Liu ◽

Yuxin Tong ◽

Bin Wu

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Gene Promoter ◽

Chinese Patients ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Bilateral Absence ◽

Promoter Mutations ◽

Cystic Fibrosis Transmembrane

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Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients

Gene ◽

10.1016/j.gene.2020.145045 ◽

2021 ◽

Vol 765 ◽

pp. 145045

Author(s):

Shaoge Luo ◽

Jiarong Feng ◽

Yanan Zhang ◽

Xiaojian Yang ◽

Gongchao Ma ◽

...

Keyword(s):

Cystic Fibrosis ◽

Mutation Analysis ◽

Vas Deferens ◽

Congenital Absence ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

Download Full-text

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)

Molecular Medicine Reports ◽

10.3892/mmr.2020.11456 ◽

2020 ◽

Author(s):

Xiangrong Cui ◽

Xueqing Wu ◽

Qiang Li ◽

Xuan Jing

Keyword(s):

Cystic Fibrosis ◽

Genetic Counseling ◽

Vas Deferens ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Bilateral Absence ◽

Cystic Fibrosis Transmembrane

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Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens

Human Reproduction ◽

10.1093/humrep/deh073 ◽

2004 ◽

Vol 19 (2) ◽

pp. 250-253 ◽

Author(s):

C.C. Wu

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Transmembrane Conductance Regulator ◽

Clinical Correlation ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Gene Screening ◽

Bilateral Absence ◽

Cystic Fibrosis Transmembrane

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Relation between the anatomical genital phenotype and cystic fibrosis transmembrane conductance regulator gene mutations in the absence of the vas deferens

Fertility and Sterility ◽

10.1016/s0015-0282(02)02954-0 ◽

2002 ◽

Vol 77 (5) ◽

pp. 889-896 ◽

Author(s):

François Robert ◽

Faı̈za Bey-Omar ◽

Jacques Rollet ◽

Jean-François Lapray ◽

Yves Morel

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

Download Full-text

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140

Human Mutation ◽

10.1002/(sici)1098-1004(1997)9:4<368::aid-humu13>3.0.co;2-0 ◽

1997 ◽

Vol 9 (4) ◽

pp. 368-369 ◽

Author(s):

Christine Clavel ◽

François Pennaforte ◽

Frédérique Pigeon ◽

Claudine Verlingue ◽

Philippe Birembaut ◽

...

Keyword(s):

Cystic Fibrosis ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Novel Mutations ◽

Cystic Fibrosis Transmembrane

Download Full-text

Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina

American Journal of Medical Genetics ◽

10.1002/ajmg.a.20197 ◽

2003 ◽

Vol 120A (1) ◽

pp. 72-76 ◽

Author(s):

Lorna S. Timmreck ◽

Mark R. Gray ◽

Barbara Handelin ◽

Bernice Allito ◽

Elizabeth Rohlfs ◽

...

Keyword(s):

Cystic Fibrosis ◽

Gene Mutations ◽

Congenital Absence ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

Download Full-text

Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations

Fertility and Sterility ◽

10.1016/s0015-0282(98)00247-7 ◽

1998 ◽

Vol 70 (4) ◽

pp. 724-728 ◽

Author(s):

Keith Jarvi ◽

Stewart McCallum ◽

Julian Zielenski ◽

Peter Durie ◽

Elizabeth Tullis ◽

...

Keyword(s):

Cystic Fibrosis ◽

Reproductive Tract ◽

Vas Deferens ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

Download Full-text