(Q74587696)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9600737%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

review article

1 reference

title

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

1 reference

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11 November 2019

1 reference

5

1 reference

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11 November 2019

author name string

B J Weigel

1

1 reference

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11 November 2019

M E Pierpont

2

1 reference

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11 November 2019

T L Young

3

1 reference

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11 November 2019

S B Mutchler

4

1 reference

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11 November 2019

publication date

1 May 1998

1 reference

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American Journal of Medical Genetics Part A

11 November 2019

published in

1 reference

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11 November 2019

volume

77

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11 November 2019

issue

4

1 reference

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11 November 2019

page(s)

285-288

1 reference

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A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Frequency of 13q abnormalities among 203 patients with retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Association of 13q deletion and Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

A 13q- syndrome with extensive intestinal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

Loss of function effect of RET mutations causing Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C285%3A%3AAID-AJMG7%3E3.0.CO%3B2-M

10.1002/(SICI)1096-8628(19980526)77:4<285::AID-AJMG7>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9600737%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference