(Q24517935)

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Waardenburg syndrome

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scholarly article

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Europe PubMed Central

Waardenburg syndrome (English)

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author name string

A P Read

1

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V E Newton

2

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language of work or name

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publication date

August 1997

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Journal of Medical Genetics

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34

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8

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656-65

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

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)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Homozygosity for Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Autosomal dominant inheritance of Klein-Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

19 March 2017

Endothelin receptor-mediated signaling in hirschsprung disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Pax3 modulates expression of the c-Met receptor during limb muscle development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

The mutational spectrum in Waardenburg syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Mammalian Pax genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Pax-3 contains domains for transcription activation and transcription inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

The human placental alkaline phosphatase gene and related sequences map to chromosome 2 band q37.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Homozygosity in piebald trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Pax in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Heterogeneity in Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Ophthalmological Findings in 34 Patients with Waardenburg Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

27 September 2017

Deafness as part of an hereditary syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

PAX-genes expression during human embryonic development, a preliminary report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Pigmentation, pleiotropy, and genetic pathways in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

The Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Hearing loss and Waardenburg's syndrome: implications for genetic counselling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Temporal bone histopathologic findings of Waardenburg's syndrome: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

30 May 2018

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

29 November 2018

Unraveling the melanocyte.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

29 November 2018

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

29 November 2018

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051028

29 November 2018

Possible homozygous Waardenburg syndrome in a fetus with exencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pigmentary disorders in association with congenital deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Waardenburg's syndrome with bilateral cleft lip

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleft palate, stapes fixation and oligodontia--a new autosomal recessively inherited syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Waardenburg's syndrome with fundus and other anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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