(Q34165103)

31 July 2017

1 reference

title

Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications (English)

1 reference

31 July 2017

1 reference

1 reference

13q deletion syndrome

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Walsh LE

1

1 reference

31 July 2017

Vance GH

series ordinal

2

1 reference

31 July 2017

Weaver DD

series ordinal

3

1 reference

31 July 2017

publication date

1 January 2001

1 reference

American Journal of Medical Genetics Part A

31 July 2017

published in

1 reference

31 July 2017

volume

98

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31 July 2017

issue

2

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31 July 2017

page(s)

137-144

1 reference

The Vater association: malformations of the male external genitalia

31 July 2017

cites work

1 reference

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Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

21 January 2018

1 reference

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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

1 reference

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Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

21 January 2018

1 reference

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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

21 January 2018

1 reference

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13q- syndrome. Family study

21 January 2018

1 reference

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Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

21 January 2018

1 reference

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A case of D13 ring chromosome

21 January 2018

1 reference

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Partial deletion of the long arm of chromosome no. 13.

21 January 2018

1 reference

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Interstitial deletion of chromosome 13: prognosis and adult phenotype

21 January 2018

1 reference

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Radial aplasia and chromosome 22q11 deletion

21 January 2018

1 reference

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A ring D chromosome and anomalous inheritance of haptoglobin type

21 January 2018

1 reference

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Interstitial del(13q) associated with blindness and mental retardation.

21 January 2018

1 reference

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A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13.

21 January 2018

1 reference

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Targeted disruptions of the murine Hoxa-4 and Hoxa-6 genes result in homeotic transformations of components of the vertebral column

21 January 2018

1 reference

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Syndrome associated with group-D chromosome deletions

21 January 2018

1 reference

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VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Errors of morphogenesis and developmental field theory

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

D13 ring chromosome syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Familial recurrence of tracheoesophageal fistula and associated malformations

21 January 2018

1 reference

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Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature

21 January 2018

1 reference

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ABNORMALITIES WITH RING CHROMOSOME

21 January 2018

1 reference

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Transposition of the external genitalia associated with the VACTERL association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Chromosome 13 Deletion Syndrome: Report of a New Case and Discussion of the Different Etiologic Patterns of Retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

A human ring D chromosome associated with multiple congenital abnormalities

21 January 2018

1 reference

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Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

21 January 2018

1 reference

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Ring Chromosomes in Human Beings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

PALM-PRINTS AND A RING-D CHROMOSOME

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Multiple congenital abnormalities associated with ring chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

21 January 2018

1 reference

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A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism

21 January 2018

1 reference

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Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition

21 January 2018

1 reference

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Deletion of band 13q21 is compatible with normal phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

An aetiological study of the VACTERL-association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

VACTERL with the mitochondrial np 3243 point mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Fragile X syndrome in two siblings with major congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Mosaic r(13) in an infant with aprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

The 13q- deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Association of 13q deletion and Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Parental origin of a ring 13 chromosome in a female with multiple anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

The ring chromosome 13 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

A 13q- syndrome with extensive intestinal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

An interstitial deletion of the long arm of chromosome 13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Ring D1 chromosome and multiple malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

Ring chromosomes in two infants with congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

The VATER association. Analysis of 46 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010115%2998%3A2%3C137%3A%3AAID-AJMG1022%3E3.0.CO%3B2-5

10.1002/1096-8628(20010115)98:2<137::AID-AJMG1022>3.0.CO;2-5

21 January 2018

Identifiers

DOI

1 reference

release_b3247kjwmfcqfnsezj7redwgiy

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/b3247kjwmfcqfnsezj7redwgiy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference