Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth (Q34328586)

1 August 2017

title

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth (English)

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1 August 2017

10

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Valérie Cormier-Daire

13

Nicole Morichon-Delvallez

Valérie Cormier-Daire

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8

Nicole Morichon-Delvallez

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Valérie Malan

Valérie Malan

1

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Serge Romana

Serge Romana

11

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Laurence Colleaux

Laurence Colleaux

14

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Didier Lacombe

Didier Lacombe

5

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Laurent Pasquier

6

Laurent Pasquier

1 reference

1 August 2017

12

Michel Vekemans

1 reference

1 August 2017

Suzanne Chevallier

2

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1 August 2017

Gwendoline Soler

3

1 reference

1 August 2017

Christine Coubes

4

1 reference

1 August 2017

Jean Soulier

7

1 reference

1 August 2017

Nicole Morichon-Delvallez

8

1 reference

1 August 2017

Catherine Turleau

9

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1 August 2017

publication date

21 October 2009

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

2

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1 August 2017

page(s)

227-232

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

1 August 2017

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6 July 2018

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

6 July 2018

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Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

6 July 2018

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Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

6 July 2018

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6 July 2018

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Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

6 July 2018

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Viral proteins E1B19K and p35 protect sympathetic neurons from cell death induced by NGF deprivation

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6 July 2018

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15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

6 July 2018

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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

21 January 2018

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21 January 2018

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

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Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

21 January 2018

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21 January 2018

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21 January 2018

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PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.162

1 reference

1 August 2017

1 reference

1 August 2017

1 reference