Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs (Q58193710)

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11 January 2020

title

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs (English)

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11 January 2020

1

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Valentina Gatta

8

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11 January 2020

Gian Mario Tiboni

16

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Bruno Dallapiccola

23

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2

Ivana Antonucci

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11 January 2020

author name string

Francesco Binni

3

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Alessandra Brandi

4

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11 January 2020

Nicoletta Grifone

5

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Alessia Colosimo

6

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11 January 2020

Mariella De Santo

7

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Gianfranco Gelli

9

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Valentina Guida

10

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Silvia Majore

11

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Giuseppe Calabrese

12

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Chiara Palka

13

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Anna Ravani

14

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11 January 2020

Rosanna Rinaldi

15

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Enzo Ballone

17

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Anna Venturoli

18

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Alessandra Ferlini

19

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Isabella Torrente

20

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Paola Grammatico

21

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Elisa Calzolari

22

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publication date

1 August 2005

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European Journal of Human Genetics

11 January 2020

published in

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volume

13

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issue

8

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page(s)

959-964

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Identification of the cystic fibrosis gene: genetic analysis

11 January 2020

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Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype

21 January 2018

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Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

21 January 2018

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Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

21 January 2018

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The cystic fibrosis transmembrane regulator gene and male infertility

21 January 2018

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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

21 January 2018

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Impaired spermatogenesis in men with congenital absence of the vas deferens

21 January 2018

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Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis

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21 January 2018

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

21 January 2018

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Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

21 January 2018

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Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis

21 January 2018

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Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

21 January 2018

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

21 January 2018

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Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium

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7 January 2021

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

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7 January 2021

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

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7 January 2021

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

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7 January 2021

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

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7 January 2021

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

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Genetic analysis of males from intracytoplasmic sperm injection couples

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Cystic fibrosis mutation screening in healthy men with reduced sperm quality

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7 January 2021

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

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7 January 2021

Mutation Frequency of Cystic Fibrosis Transmembrane Regulator is not Increased in Oligozoospermic Male Candidates For Intracytoplasmic Sperm Injection

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7 January 2021

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201437

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11 January 2020

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