(Q51946915)

18 April 2018

title

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review. (English)

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18 April 2018

5

Alain Verloes

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18 April 2018

Laura Rodríguez

1

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18 April 2018

Nieves Martínez Guardia

2

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18 April 2018

Christian Herens

3

1 reference

18 April 2018

Mauricette Jamar

4

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18 April 2018

Fermina López

6

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18 April 2018

José Santos Muñoz

7

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18 April 2018

María Luisa Martínez-Frías

8

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18 April 2018

language of work or name

English

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publication date

1 October 2003

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18 April 2018

American Journal of Medical Genetics

published in

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18 April 2018

volume

122A

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18 April 2018

issue

2

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18 April 2018

page(s)

119-124

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18 April 2018

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Detecting rearrangements in children using subtelomeric FISH and SKY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Two 22q telomere deletions serendipitously detected by FISH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

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.20243

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Partial trisomy 12q associated with a familial translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Malformation syndrome of duplication 12q24.1→qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

Caution: telomere crossing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20243

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20243

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18 April 2018

1 reference

18 April 2018