(Q33675525)

28 July 2017

title

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome (English)

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28 July 2017

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F A Hol

1

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28 July 2017

B C Hamel

2

1 reference

28 July 2017

M P Geurds

3

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28 July 2017

R A Mullaart

4

1 reference

28 July 2017

F G Barr

5

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28 July 2017

R A Macina

6

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28 July 2017

E C Mariman

7

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28 July 2017

language of work or name

English

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publication date

1 January 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

1

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28 July 2017

page(s)

52-56

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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)

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Waardenburg syndrome and myelomeningocele in a family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Pax: gene regulators in the developing nervous system.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Waardenburg syndrome in South Africa. Part I. An evaluation of the clinical findings in 11 families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Conservation of the paired domain in metazoans and its structure in three isolated human genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

The embryonic development of mammalian neural tube defects.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Parental sex effect in spina bifida: a role for genomic imprinting?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Waardenburg syndrome associated with meningomyelocele

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Sex ratios of affected and transmitting members of multiple case families with neural tube defects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Interaction between splotch (Sp) and curly tail (ct) mouse mutants in the embryonic development of neural tube defects.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050180

Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family

30 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

Cerebellar infarction in a patient with Waardenburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

Waardenburg syndrome and meningocele

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

Waardenburg syndrome and meningomyelocele

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897628

12 December 2020

Identifiers

DOI

10.1136/JMG.32.1.52

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28 July 2017

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28 July 2017

1 reference