(Q24517914)

2 July 2017

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida (English)

1 reference

2 July 2017

1 reference

1 reference

F A Hol

1

1 reference

2 July 2017

M P Geurds

2

1 reference

2 July 2017

S Chatkupt

3

1 reference

2 July 2017

Y Y Shugart

4

1 reference

2 July 2017

R Balling

5

1 reference

2 July 2017

C T Schrander-Stumpel

6

1 reference

2 July 2017

W G Johnson

7

1 reference

2 July 2017

B C Hamel

8

1 reference

2 July 2017

E C Mariman

9

1 reference

2 July 2017

language of work or name

English

0 references

publication date

1 August 1996

1 reference

Journal of Medical Genetics

2 July 2017

1 reference

2 July 2017

33

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2 July 2017

655-660

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2 July 2017

8

1 reference

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 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Waardenburg syndrome associated with meningomyelocele

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Waardenburg syndrome and myelomeningocele in a family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

The role of Pax-1 in axial skeleton development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Absence of linkage between familial neural tube defects and PAX3 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050699

Possible homozygous Waardenburg syndrome in a fetus with exencephaly

29 November 2018

1 reference

12 December 2020

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

12 December 2020

Cerebellar infarction in a patient with Waardenburg syndrome

1 reference

12 December 2020

Waardenburg syndrome and meningocele

1 reference

12 December 2020

The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat

1 reference

12 December 2020

Waardenburg syndrome and meningomyelocele

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.33.8.655

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.33.8.655

1 reference

2 July 2017

0 references

1 reference