CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens (Q35642996)

9 August 2017

title

CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens (English)

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congenital bilateral aplasia of the vas deferens

9 August 2017

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author name string

Rave-Harel N

1

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9 August 2017

Madgar I

2

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9 August 2017

Goshen R

3

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9 August 2017

Nissim-Rafinia M

4

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9 August 2017

Ziadni A

5

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9 August 2017

Rahat A

6

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9 August 2017

Chiba O

7

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9 August 2017

Kalman YM

8

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9 August 2017

Brautbar C

9

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9 August 2017

Levinson D

10

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9 August 2017

language of work or name

English

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publication date

1 June 1995

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American Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

56

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9 August 2017

issue

6

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9 August 2017

page(s)

1359-1366

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Aetiology of congenital absence of vas deferens: genetic study of three generations

9 August 2017

cites work

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Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

12 July 2018

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Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients

12 July 2018

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12 July 2018

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12 July 2018

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Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

12 July 2018

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Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

12 July 2018

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Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

12 July 2018

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

12 July 2018

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Congenital absence of the vas deferens: recurrence in a family

25 September 2018

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Methods for analysis of multiple cystic fibrosis mutations

15 November 2018

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12 December 2020

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

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12 December 2020

Multiplex PCR amplification of three microsatellites within the CFTR gene

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12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

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12 December 2020

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

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12 December 2020

Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21

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12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

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12 December 2020

Invasive squamous cell carcinoma of the cervix: is HLA-DQ a disease marker in Jewish patients?

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12 December 2020

A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews

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12 December 2020

Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

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12 December 2020

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

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12 December 2020

Identifiers

PMC publication ID

1801105

1 reference

9 August 2017

1 reference