(Q57304743)

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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

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20 October 2019

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

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20 October 2019

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20 October 2019

Xavier Estivill i Pallejà

10

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20 October 2019

author name string

T Casals

1

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20 October 2019

L Bassas

2

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20 October 2019

J Ruiz-Romero

3

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20 October 2019

J Giménez

5

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20 October 2019

M D Ramos

6

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20 October 2019

G Tapia

7

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20 October 2019

H Narváez

8

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20 October 2019

V Nunes

9

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20 October 2019

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1 February 1995

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20 October 2019

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20 October 2019

95

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20 October 2019

2

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20 October 2019

205-211

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20 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00209403

0 references

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between genotype and phenotype in patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis and congenital absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 12 novel mutations in the CFTR gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vasa aplasia and cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex PCR amplification of three microsatellites within the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the cystic fibrosis gene in human foetal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital absence of the vasa deferentia presenting with infertility

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reproductive Failure in Males with Cystic Fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genital abnormalities in male patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative evaluation of spermatogenesis by testicular histology in men with congenital absence of the vas deferens undergoing epididymal sperm aspiration

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7532150

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00209403

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7532150%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7532150%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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