(Q52553442)

English

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.

scientific article published in April 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations. (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

author name string

B Gläser

1

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

K Shirneshan

2

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

K Bink

3

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

J Wirth

4

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

H Kehrer-Sawatzki

5

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

U Bartz

6

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

B Zoll

7

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

Stefan K Bohlander

8

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

language of work or name

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publication date

1 April 2004

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

126A

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

3

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

229-236

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Investigation of the "variable spreading" of X inactivation into a translocated autosome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Structural chromosome anomalies in congenital diaphragmatic hernia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

X-autosome translocations: cytogenetic characteristics and their consequences

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20584

21 January 2018

Identifiers

10.1002/AJMG.A.20584

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 May 2018

http://europepmc.org/abstract/MED/15054834

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