(Q51933280)

17 April 2018

title

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3). (English)

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17 April 2018

author

Magnus Nordenskjöld

3

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author name string

Jacqueline Schoumans

1

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17 April 2018

Gunnar Sanner

2

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17 April 2018

Britt-Marie Anderlid

4

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language of work or name

English

0 references

publication date

1 April 2005

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

134

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issue

3

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17 April 2018

page(s)

254-258

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17 April 2018

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Telomeres: a diagnosis at the end of the chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

Ring chromosome 17: phenotype variation by deletion size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30611

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30611

1 reference

17 April 2018

1 reference

17 April 2018