(Q36145946)

12 August 2017

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy (English)

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12 August 2017

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1

Saketh Kapoor

1 reference

12 August 2017

Parayil Sankaran Bindu

2

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12 August 2017

Arun B Taly

3

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12 August 2017

Sanjib Sinha

4

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12 August 2017

Narayanappa Gayathri

5

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12 August 2017

S Vasantha Rani

6

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12 August 2017

Giriraj Ratan Chandak

7

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12 August 2017

Arun Kumar

8

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12 August 2017

20 July 2012

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12 August 2017

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12 August 2017

18

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12 August 2017

2022-2032

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Review and update of mutations causing Waardenburg syndrome.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Endothelin-3 regulates neural crest cell proliferation and differentiation in the hindgut enteric nervous system.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Mouse models for four types of Waardenburg syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

SLUG (SNAI2) deletions in patients with Waardenburg disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

The temporal requirement for endothelin receptor-B signalling during neural crest development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Population frequencies of inherited neuromuscular diseases—A world survey

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Point mutations in the dystrophin gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413420

Novel small mutations along the DMD/BMD gene associated with different phenotypes

23 September 2018

1 reference

12 December 2020

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis

1 reference

12 December 2020

Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients

1 reference

12 December 2020

Novel point mutations in the dystrophin gene

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12 December 2020

Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements

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12 December 2020

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

1 reference

12 December 2020

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV

1 reference

12 December 2020

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

1 reference

12 December 2020

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation

1 reference

12 December 2020

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

12 December 2020

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

1 reference

12 December 2020

Identifiers

1 reference

12 August 2017

PubMed publication ID

22876130

1 reference