(Q34325459)

1 August 2017

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title

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. (English)

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1 August 2017

main subject

Contiguous gene syndrome

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Shanske A

1

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1 August 2017

Ferreira JC

2

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1 August 2017

Leonard JC

3

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1 August 2017

Fuller P

4

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1 August 2017

Marion RW

5

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1 August 2017

language of work or name

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1 August 2001

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American Journal of Medical Genetics Part A

1 August 2017

published in

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1 August 2017

volume

102

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1 August 2017

issue

3

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1 August 2017

page(s)

231-236

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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

1 August 2017

cites work

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

21 January 2018

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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

21 January 2018

1 reference

Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors

21 January 2018

1 reference

Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease

21 January 2018

1 reference

Interstitial deletion 13q syndromes: a report on two unrelated patients.

21 January 2018

1 reference

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Frequency of 13q abnormalities among 203 patients with retinoblastoma

21 January 2018

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Association of 13q deletion and Hirschsprung's disease.

21 January 2018

1 reference

The ring chromosome 13 syndrome

21 January 2018

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A 13q- syndrome with extensive intestinal atresia

21 January 2018

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Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

21 January 2018

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Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

21 January 2018

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Trisomy for the distal end of the short arm of chromosome 3: a syndrome

21 January 2018

1 reference

Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1451

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1 August 2017

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