Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region (Q33699316)

28 July 2017

title

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region (English)

1 reference

neonatal hypoxic-ischemic encephalopathy

28 July 2017

main subject

1 reference

Raquel M Fernández

1

1 reference

28 July 2017

Rocío Núñez-Torres

2

1 reference

28 July 2017

Antonio González-Meneses

3

1 reference

28 July 2017

Guillermo Antiñolo

4

1 reference

28 July 2017

Salud Borrego

5

1 reference

28 July 2017

publication date

22 September 2010

1 reference

28 July 2017

1 reference

28 July 2017

volume

11

1 reference

28 July 2017

page(s)

137

1 reference

L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease

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=2955569

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients 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=2955569

Hirschsprung disease, associated syndromes and genetics: a 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=2955569

Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

The contribution of associated congenital anomalies in understanding 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=2955569

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955569

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

Expanding the phenotypic spectrum of L1CAM-associated disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-137

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20860806

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evidence for somatic and germline mosaicism in CRASH syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20860806

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-11-137

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference