(Q35642996)

9 August 2017

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

1 reference

congenital bilateral aplasia of the vas deferens

9 August 2017

0 references

0 references

author name string

Rave-Harel N

1

1 reference

9 August 2017

Madgar I

2

1 reference

9 August 2017

Goshen R

3

1 reference

9 August 2017

Nissim-Rafinia M

4

1 reference

9 August 2017

Ziadni A

5

1 reference

9 August 2017

Rahat A

6

1 reference

9 August 2017

Chiba O

7

1 reference

9 August 2017

Kalman YM

8

1 reference

9 August 2017

Brautbar C

9

1 reference

9 August 2017

Levinson D

10

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 June 1995

1 reference

American Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

56

1 reference

9 August 2017

6

1 reference

9 August 2017

1359-1366

1 reference

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

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Distribution of a pseudodeficiency allele among Tay-Sachs carriers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Genital abnormalities in male patients with cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Identification of the cystic fibrosis gene: chromosome walking and jumping

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Identification of the cystic fibrosis gene: genetic analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Rapid nonradioactive detection of the major cystic fibrosis mutation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Approaches to localizing disease genes as applied to cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Congenital absence of the vas deferens: recurrence in a family

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801105

Methods for analysis of multiple cystic fibrosis mutations

15 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiplex PCR amplification of three microsatellites within the CFTR gene

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

PMCID

1801105

1 reference

9 August 2017

1 reference