Respiratory exacerbations in childhood associated with compound heterozygosity Phe508del/Arg117His-7T of the cystic fibrosis transmembrane regulator gene

Acta Paediatrica ◽

10.1111/j.1651-2227.2008.00716.x ◽

2008 ◽

Vol 97 (5) ◽

pp. 670-672

Author(s):

TWR Lee ◽

SP Conway ◽

D Peckham ◽

KG Brownlee

Keyword(s):

Cystic Fibrosis ◽

Cystic Fibrosis Transmembrane Regulator ◽

Compound Heterozygosity ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane ◽

Respiratory Exacerbations

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The cystic fibrosis transmembrane regulator gene and male infertility

Journal of Endocrinological Investigation ◽

10.1007/bf03343794 ◽

2000 ◽

Vol 23 (10) ◽

pp. 684-689 ◽

Author(s):

C. Quinzii ◽

C. Castellani

Keyword(s):

Cystic Fibrosis ◽

Male Infertility ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane

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Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature

Global Journal of Rare Diseases ◽

10.17352/2640-7876.000023 ◽

2020 ◽

pp. 015-021

Author(s):

Banjar Hanaa ◽

Alkassas Wesam ◽

Ghomraoui Firas ◽

Ghomraoui Reem ◽

Moghrabi Nabil

Keyword(s):

Cystic Fibrosis ◽

Case Series ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Review Of The Literature ◽

Cystic Fibrosis Transmembrane ◽

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Idiopathic CD4+ T Lymphocytopenia Presenting as Mycetoma in a Patient With a Mutation in the Cystic Fibrosis Transmembrane Regulator Gene

Archives of Dermatology ◽

10.1001/archderm.1996.03890340113023 ◽

1996 ◽

Vol 132 (10) ◽

pp. 1247

Author(s):

Sylvia Stracke

Keyword(s):

Cystic Fibrosis ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane

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Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

Annals of Tropical Paediatrics ◽

10.1080/02724939992671 ◽

1999 ◽

Vol 19 (1) ◽

pp. 69-73 ◽

Author(s):

H. Banjar ◽

M. Kambouris ◽

B. F. Meyer ◽

A. Al-Mehaidib ◽

I. Mogarri

Keyword(s):

Cystic Fibrosis ◽

Saudi Arabia ◽

Geographic Distribution ◽

Gene Mutations ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane

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Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic

Fertility and Sterility ◽

10.1016/j.fertnstert.2007.01.065 ◽

2007 ◽

Vol 88 (6) ◽

pp. 1687-1688 ◽

Author(s):

Jennifer Slostad ◽

Quinn P. Stein ◽

Jason D. Flanagan ◽

Keith A. Hansen

Keyword(s):

Cystic Fibrosis ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane

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Mutations of the cystic fibrosis transmembrane regulator gene in patients of fibrocalculous pancreatic diabetes

Diabetes Research and Clinical Practice ◽

10.1016/s0168-8227(00)81781-7 ◽

2000 ◽

Vol 50 ◽

pp. 95-96

Author(s):

Eesh Bhatia ◽

Peter Durie ◽

Julian Zielenski ◽

David Lam ◽

Lap-Chee Tsui

Keyword(s):

Cystic Fibrosis ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Pancreatic Diabetes ◽

Fibrocalculous Pancreatic Diabetes ◽

Cystic Fibrosis Transmembrane

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Compound genetic abnormalities in patients with cystic fibrosis transmembrane regulator gene mutation

Fertility and Sterility ◽

10.1016/j.fertnstert.2006.07.1537 ◽

2007 ◽

Vol 87 (6) ◽

pp. 1468.e5-1468.e8 ◽

Author(s):

Edward Karpman ◽

Daniel H. Williams ◽

Sidney Wilberforce ◽

Larry I. Lipshultz

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Genetic Abnormalities ◽

Cystic Fibrosis Transmembrane

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Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test

Journal of Medical Genetics ◽

10.1136/jmg.38.3.202 ◽

2001 ◽

Vol 38 (3) ◽

pp. 202-205 ◽

Author(s):

C. CASTELLANI

Keyword(s):

Cystic Fibrosis ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Coding Region ◽

Cystic Fibrosis Transmembrane

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A Unique Phenotype of a Rare Cystic Fibrosis Transmembrane Regulator Gene Mutation: C.935_937deltct (p.Phe312del)

10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a3159 ◽

2020 ◽

Author(s):

E. Worthington ◽

J.L. Goralski

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane

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Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane Regulator Gene

Journal of Molecular Diagnostics ◽

10.1016/s1525-1578(10)60520-x ◽

2004 ◽

Vol 6 (3) ◽

pp. 264-270 ◽

Author(s):

Genevieve Pont-Kingdon ◽

Mohamed Jama ◽

Christine Miller ◽

Alison Millson ◽

Elaine Lyon

Keyword(s):

Cystic Fibrosis ◽

Polymerase Chain Reaction Method ◽

Cystic Fibrosis Transmembrane Regulator ◽

Regulator Gene ◽

Chain Reaction ◽

Reaction Method ◽

Specific Polymerase Chain Reaction ◽

Allele Specific ◽

Polymerase Chain ◽

Cystic Fibrosis Transmembrane

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