A Novel Missense Mutation A1081P in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Identified in a Laotian Patient with Congenital Bilateral Absence of the Vas Deferens

Bilateral Absence ◽

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies

The Indian Journal of Medical Research ◽

10.4103/0971-5916.187110 ◽

2016 ◽

Vol 143 (5) ◽

pp. 616 ◽

Cited By ~ 9

Author(s):

Rahul Gajbhiye ◽

Kaushiki Kadam ◽

Aalok Khole ◽

Avinash Gaikwad ◽

Seema Kadam ◽

...

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Cftr Gene ◽

Renal Anomalies ◽

Bilateral Absence ◽

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens

International Journal of Urology ◽

10.1111/j.1442-2042.2007.01974.x ◽

2008 ◽

Vol 15 (3) ◽

pp. 270-271 ◽

Cited By ~ 17

Author(s):

Hideo Sakamoto ◽

Takatoshi Yajima ◽

Kohta Suzuki ◽

Yoshio Ogawa

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Vas Deferens ◽

Cftr Gene ◽

Bilateral Absence ◽

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

Human Reproduction ◽

10.1093/humrep/dem024 ◽

2007 ◽

Vol 22 (5) ◽

pp. 1285-1291 ◽

Cited By ~ 51

Author(s):

Ilham Ratbi ◽

Marie Legendre ◽

Florence Niel ◽

Josiane Martin ◽

Jean-Claude Soufir ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Counselling ◽

Vas Deferens ◽

Mutation Spectrum ◽

Cftr Gene ◽

Gene Rearrangements ◽

Bilateral Absence ◽

Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa

Annals of Human Biology ◽

10.3109/03014460.2011.642892 ◽

2011 ◽

Vol 39 (1) ◽

pp. 76-79 ◽

Cited By ~ 15

Author(s):

M. Boudaya ◽

S. Hadj Fredj ◽

R. Bel Haj ◽

M. Khrouf ◽

A. Bouker ◽

...

Keyword(s):

Cystic Fibrosis ◽

North Africa ◽

Vas Deferens ◽

Bilateral Absence ◽

Restricted Group ◽

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 ◽

Regulator Gene ◽

Bilateral Absence ◽

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 ◽

Cited By ~ 28

Author(s):

C.C. Wu

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Clinical Correlation ◽

Regulator Gene ◽

Gene Screening ◽

Bilateral Absence ◽

Different Cystic Fibrosis Transmembrane Conductance Regulator Mutations in Chinese Men With Congenital Bilateral Absence of Vas Deferens and Other Acquired Obstructive Azoospermia

Urology ◽

10.1016/j.urology.2013.06.024 ◽

2013 ◽

Vol 82 (4) ◽

pp. 824-828 ◽

Cited By ~ 12

Author(s):

Shaoming Lu ◽

Xiaoli Yang ◽

Yanyi Cui ◽

Xiao Li ◽

Haobo Zhang ◽

...

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Obstructive Azoospermia ◽

Chinese Men ◽

Bilateral Absence ◽

A New Missense Mutation G126D in Exon 4 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

Human Heredity ◽

10.1159/000154190 ◽

1994 ◽

Vol 44 (1) ◽

pp. 56-57 ◽

Cited By ~ 3

Author(s):

Klaus Wagner ◽

Ignaz Greil ◽

Petra Schneditz ◽

Walter Rosenkranz

Keyword(s):

Cystic Fibrosis ◽

Missense Mutation ◽

Cftr Gene ◽

Exon 4 ◽

Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

Journal of Molecular Diagnostics ◽

10.2353/jmoldx.2007.070040 ◽

2007 ◽

Vol 9 (5) ◽

pp. 582-588 ◽

Cited By ~ 25

Author(s):

Corinne Bareil ◽

Caroline Guittard ◽

Jean-Pierre Altieri ◽

Carine Templin ◽

Mireille Claustres ◽

...

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Bilateral Absence ◽

A New Missense Mutation G1249E in Exon 20 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

Human Heredity ◽

10.1159/000154223 ◽

1994 ◽

Vol 44 (4) ◽

pp. 238-240 ◽

Cited By ~ 3

Author(s):

Ignaz Greil ◽

Klaus Wagner ◽

Walter Rosenkranz

Keyword(s):

Cystic Fibrosis ◽

Missense Mutation ◽

Cftr Gene ◽

Exon 20 ◽