Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region (Q57655070)

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15 March 2020

title

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region (English)

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15 March 2020

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1

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15 March 2020

Martin Kerick

5

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15 March 2020

Stefan Herms

15

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15 March 2020

Agneta Nordenskjöld

21

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Bernhard Herrmann

23

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15 March 2020

Markus M Nöthen

24

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16

John P Gearhart

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15 March 2020

author name string

Friederike Baudisch

2

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Bernd Timmermann

3

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15 March 2020

Heiner Kuhl

4

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Judith Proske

6

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15 March 2020

Lars Wittler

7

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Tracie Pennimpede

8

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Anne-Karoline Ebert

9

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Wolfgang Rösch

10

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Raimund Stein

11

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Enrika Bartels

12

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Catharina von Lowtzow

13

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Yegappan Lakshmanan

17

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Christina Clementsson Kockum

18

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Gundela Holmdahl

19

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Göran Läckgren

20

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Michael Ludwig

25

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Heiko Reutter

26

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Thomas M Boemers

14

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Simeon A Boyadjiev

22

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publication date

25 April 2014

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Birth Defects Research Part A: Clinical and Molecular Teratology

15 March 2020

published in

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volume

100

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issue

6

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page(s)

512-517

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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

15 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

The exstrophy-epispadias complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

GUDMAP: the genitourinary developmental molecular anatomy project

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

Microduplication 22q11.2: a new chromosomal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.23249

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

21 January 2018

1 reference

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Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/BDRA.23249

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15 March 2020

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