(Q52563673)

English

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. (English)

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

bladder exstrophy

1 reference

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David J Hur

6

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John P Gearhart

8

object named as

John P Gearhart

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

author name string

Simeon A Boyadjiev

1

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Europe PubMed Central

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3 May 2018

http://europepmc.org/abstract/MED/15820314

Sarah T South

2

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

Cristi L Radford

3

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Europe PubMed Central

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3 May 2018

http://europepmc.org/abstract/MED/15820314

Ankita Patel

4

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Europe PubMed Central

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3 May 2018

http://europepmc.org/abstract/MED/15820314

George Zhang

5

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

George H Thomas

7

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

Gail Stetten

9

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3 May 2018

http://europepmc.org/abstract/MED/15820314

publication date

1 May 2005

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Europe PubMed Central

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3 May 2018

http://europepmc.org/abstract/MED/15820314

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

85

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

5

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Europe PubMed Central

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3 May 2018

http://europepmc.org/abstract/MED/15820314

622-629

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Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Epidemiology of bladder exstrophy and epispadias: a communication from the International Clearinghouse for Birth Defects Monitoring Systems

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature

1 reference

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7 January 2021

Dichorionic triplet pregnancy with the monoamniotic twin pair concordant for omphalocele and bladder exstrophy

1 reference

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7 January 2021

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Anatomical correction of the exstrophy-epispadias complex: analysis of 34 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Contactin-associated protein (Caspr) and contactin form a complex that is targeted to the paranodal junctions during myelination.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Molecular-evolutionary mechanisms for genomic disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Amplification of the pericentromeric region of chromosome 1 in a newly established colon carcinoma cell line.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

DNA sequence and analysis of human chromosome 9

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

The inheritance of the exstrophy-epispadias complex

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.002

7 January 2021

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10.1016/J.YGENO.2005.01.002

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15820314

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