Diagnostic Approach to Diseases Associated with Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations

Cystic Fibrosis ◽

10.3109/9781439801826-10 ◽

2016 ◽

pp. 123-142

Keyword(s):

Cystic Fibrosis ◽

Gene Mutations ◽

Diagnostic Approach ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

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

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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

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Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis

CHEST Journal ◽

10.1378/chest.119.3.762 ◽

2001 ◽

Vol 119 (3) ◽

pp. 762-767 ◽

Author(s):

Eric Marchand ◽

Luc Delaunois ◽

Pierre Brancaleone ◽

Olivier Vandenplas ◽

Michel Mairesse ◽

...

Keyword(s):

Cystic Fibrosis ◽

Allergic Bronchopulmonary Aspergillosis ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme

MHR Basic science of reproductive medicine ◽

10.1093/molehr/5.6.587 ◽

1999 ◽

Vol 5 (6) ◽

pp. 587-593 ◽

Author(s):

D. Boucher

Keyword(s):

Cystic Fibrosis ◽

Intracytoplasmic Sperm Injection ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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The Profile of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients From Romania in Relationship with the Ethnogenesis of the Romanian People

Acta Endocrinologica (Bucharest) ◽

10.4183/aeb.2013.349 ◽

2013 ◽

Vol 9 (3) ◽

pp. 349-360

Author(s):

L Frenţescu

Keyword(s):

Cystic Fibrosis ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

The Journal of Pediatrics ◽

10.1016/s0022-3476(95)70157-5 ◽

1995 ◽

Vol 127 (5) ◽

pp. 705-710 ◽

Author(s):

Michael Wilschanski ◽

Julian Zielenski ◽

Danuta Markiewicz ◽

Lap-Chee Tsui ◽

Mary Corey ◽

...

Keyword(s):

Cystic Fibrosis ◽

Gene Mutations ◽

Chloride Concentration ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Sweat Chloride ◽

Cystic Fibrosis Transmembrane

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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

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Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males

Fertility and Sterility ◽

10.1016/j.fertnstert.2005.07.1282 ◽

2006 ◽

Vol 85 (1) ◽

pp. 135-138 ◽

Author(s):

Solveig Schulz ◽

Sibylle Jakubiczka ◽

Siegfried Kropf ◽

Ingrid Nickel ◽

Petra Muschke ◽

...

Keyword(s):

Cystic Fibrosis ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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Cystic fibrosis transmembrane conductance regulator gene mutations in men with azospermia in northern Iran

Clinical Biochemistry ◽

10.1016/j.clinbiochem.2011.08.727 ◽

2011 ◽

Vol 44 (13) ◽

pp. S290

Author(s):

Mashayekhi Farhad ◽

Gholizadeh Lida

Keyword(s):

Cystic Fibrosis ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Northern Iran ◽

Cystic Fibrosis Transmembrane

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Lack of Association of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations with Primary Sclerosing Cholangitis

The American Journal of Gastroenterology ◽

10.1111/j.1572-0241.2005.41072.x ◽

2005 ◽

Vol 100 (4) ◽

pp. 874-878 ◽

Author(s):

Juan F. Gallegos-Orozco ◽

Catherine E. Yurk ◽

Nulang Wang ◽

Jorge Rakela ◽

Michael R. Charlton ◽

...

Keyword(s):

Cystic Fibrosis ◽

Primary Sclerosing Cholangitis ◽

Sclerosing Cholangitis ◽

Gene Mutations ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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