Literature DB >> 7540706

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia.

K Jarvi, J Zielenski, M Wilschanski, P Durie, M Buckspan, E Tullis, D Markiewicz, L C Tsui.   

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Year:  1995        PMID： 7540706     DOI： 10.1016/s0140-6736(95)91131-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  20 in total

Review 1.  An update on the diagnosis and management of ejaculatory duct obstruction.

Authors:  Vaibhav Modgil; Sonpreet Rai; David J Ralph; Asif Muneer
Journal:  Nat Rev Urol       Date:  2015-12-01       Impact factor: 14.432

2.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

3.  CFTR gene variant IVS8-5T in disseminated bronchiectasis.

Authors:  P F Pignatti; C Bombieri; M Benetazzo; A Casartelli; E Trabetti; L S Gilè; L C Martinati; A L Boner; M Luisetti
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

4.  From genotype to phenotype: genetics and medical practice in the new millennium.

Authors:  D Weatherall
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-12-29       Impact factor: 6.237

5.  The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

Authors:  N Rave-Harel; E Kerem; M Nissim-Rafinia; I Madjar; R Goshen; A Augarten; A Rahat; A Hurwitz; A Darvasi; B Kerem
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

Review 6.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

Review 7.  The biology of infertility: research advances and clinical challenges.

Authors:  Martin M Matzuk; Dolores J Lamb
Journal:  Nat Med       Date:  2008-11-06       Impact factor: 53.440

Review 8.  Cystic fibrosis.

Authors:  Felix Ratjen; Scott C Bell; Steven M Rowe; Christopher H Goss; Alexandra L Quittner; Andrew Bush
Journal:  Nat Rev Dis Primers       Date:  2015-05-14       Impact factor: 52.329

9.  A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.

Authors:  Timothy W Hefferon; Joshua D Groman; Catherine E Yurk; Garry R Cutting
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-01       Impact factor: 11.205

10.  HNF1 regulates critical processes in the human epididymis epithelium.

Authors:  James A Browne; Rui Yang; Scott E Eggener; Shih-Hsing Leir; Ann Harris
Journal:  Mol Cell Endocrinol       Date:  2016-01-22       Impact factor: 4.102
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