(Q52191298)

26 April 2018

title

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? (English)

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26 April 2018

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Veronica van Heyningen

6

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author name string

C M Aalfs

1

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26 April 2018

J A Fantes

2

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L J Wenniger-Prick

3

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S Sluijter

4

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R C Hennekam

5

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J M Hoovers

7

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publication date

1 December 1997

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American Journal of Medical Genetics Part A

published in

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volume

73

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issue

3

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page(s)

267-271

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A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

21 January 2018

1 reference

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Pax6: more than meets the eye.

21 January 2018

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Mouse small eye results from mutations in a paired-like homeobox-containing gene

21 January 2018

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WT-1 is required for early kidney development

21 January 2018

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Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.

21 January 2018

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WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour

21 January 2018

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Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

21 January 2018

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Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus.

21 January 2018

1 reference

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Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization

21 January 2018

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Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.

21 January 2018

1 reference

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Cystic hygroma and hydrops fetalis in dup(11p) syndrome

21 January 2018

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Partial trisomy 11,46,XX,-3,-20,+der3,+der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20

21 January 2018

1 reference

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Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971219%2973%3A3%3C267%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19971219)73:3<267::AID-AJMG7>3.0.CO;2-P

21 January 2018

Identifiers

DOI

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26 April 2018

1 reference

26 April 2018