(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)

1 reference

26 April 2018

1 reference

Veronica van Heyningen

6

1 reference

26 April 2018

author name string

C M Aalfs

1

1 reference

26 April 2018

J A Fantes

2

1 reference

26 April 2018

L J Wenniger-Prick

3

1 reference

26 April 2018

S Sluijter

4

1 reference

26 April 2018

R C Hennekam

5

1 reference

26 April 2018

J M Hoovers

7

1 reference

26 April 2018

publication date

1 December 1997

1 reference

26 April 2018

American Journal of Medical Genetics Part A

published in

1 reference

26 April 2018

volume

73

1 reference

26 April 2018

issue

3

1 reference

26 April 2018

page(s)

267-271

1 reference

26 April 2018

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

cites work

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

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

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

Pax6: more than meets the eye.

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

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

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

WT-1 is required for early kidney development

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1 reference

26 April 2018

1 reference

26 April 2018