Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. (Q41924838)

14 October 2017

title

Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. (English)

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14 October 2017

main subject

13q deletion syndrome

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Luo J

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14 October 2017

Balkin N

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14 October 2017

Stewart JF

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14 October 2017

Sarwark JF

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14 October 2017

Charrow J

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14 October 2017

Nye JS

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14 October 2017

publication date

1 March 2000

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American Journal of Medical Genetics Part A

14 October 2017

published in

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14 October 2017

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14 October 2017

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14 October 2017

page(s)

227-230

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Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q

14 October 2017

cites work

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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

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

21 January 2018

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Familial partial trisomy of the long arm of chromosome 3 (3q)

21 January 2018

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Associated malformations in infants and fetuses with upper or lower neural tube defects.

21 January 2018

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Cytogenetic studies in seven individuals with an i(Xq) karyotype

21 January 2018

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Trisomy 13 syndrome and neural tube defects

21 January 2018

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Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization

21 January 2018

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A human ring D chromosome associated with multiple congenital abnormalities

21 January 2018

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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

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Fetal karyotype following ascertainment of fetal anomalies by ultrasound

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(20000320)91:3<227::AID-AJMG14>3.0.CO;2-I

21 January 2018

Identifiers

DOI

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14 October 2017

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