(Q33673884)

28 July 2017

1 reference

title

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? (English)

1 reference

28 July 2017

main subject

Hirschsprung's disease

1 reference

Fewtrell MS

1

1 reference

28 July 2017

Tam PK

2

1 reference

28 July 2017

Thomson AH

3

1 reference

28 July 2017

Fitchett M

4

1 reference

28 July 2017

Currie J

5

1 reference

28 July 2017

Huson SM

6

1 reference

28 July 2017

Mulligan LM

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1994

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

31

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

325-327

1 reference

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

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=1049807

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Hirschsprung's disease in a family with multiple endocrine neoplasia type 2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: requirement for a permissive microenvironment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Interstitial deletion of distal 13q associated with Hirschsprung's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Transgenic mice overexpressing the mouse homoeobox-containing gene Hox-1.4 exhibit abnormal gut development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking 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=1049807

Formation and malformation of the enteric nervous system in mice: an organ culture study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

A genetic study of Hirschsprung disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Interstitial deletion of 10q: clinical features 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=1049807

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=1049807

Deletion of genes on chromosome 1 in endocrine neoplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049807

Neurocristopathy. The association of Hirschsprung's disease-ganglioneuroma with autonomic nervous system dysfunction in 2 children

30 October 2018

1 reference

12 December 2020

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2

1 reference

12 December 2020

Physical and genetic maps for chromosome 10

1 reference

12 December 2020

Association of Megacolon with Two Recessive Spotting Genes in the Mouse

1 reference

12 December 2020

Interstitial deletion of the long arm of chromosome 10

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.4.325

1 reference

28 July 2017

1 reference

28 July 2017

1 reference