Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. (Q51951849)

18 April 2018

title

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. (English)

1 reference

18 April 2018

author

Chad Shaw

2

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18 April 2018

James R. Lupski

15

object named as

James R Lupski

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18 April 2018

Pawel Stankiewicz

7

object named as

Pawel Stankiewicz

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18 April 2018

Seema R Lalani

6

object named as

Seema R Lalani

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18 April 2018

12

A Craig Chinault

1 reference

18 April 2018

5

Carlos A Bacino

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18 April 2018

Lina Shao

1

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18 April 2018

Xin-Yan Lu

3

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18 April 2018

Trilochan Sahoo

4

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18 April 2018

Svetlana A Yatsenko

8

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18 April 2018

Yinfeng Li

9

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18 April 2018

Sarah Neill

10

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18 April 2018

Amber N Pursley

11

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18 April 2018

Ankita Patel

13

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18 April 2018

Arthur L Beaudet

14

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18 April 2018

Sau W Cheung

16

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18 April 2018

language of work or name

English

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publication date

1 September 2008

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18 April 2018

American Journal of Medical Genetics

published in

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18 April 2018

volume

146A

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18 April 2018

issue

17

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18 April 2018

page(s)

2242-2251

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18 April 2018

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

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

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22 May 2018

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22 May 2018

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13 August 2018

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13 August 2018

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MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

13 August 2018

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Clinical experience with array CGH: case presentations from nine months of practice.

13 August 2018

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

13 August 2018

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Array-based comparative genome hybridization in clinical genetics.

13 August 2018

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Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

13 August 2018

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Subtelomere deletions and translocations are frequently familial.

13 August 2018

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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

13 August 2018

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Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

13 August 2018

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Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

30 November 2018

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12 December 2020

The clinical utility of enhanced subtelomeric coverage in array CGH

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12 December 2020

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

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12 December 2020

The end of the beginning of chromosome ends

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12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

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Identifiers

DOI

10.1002/AJMG.A.32399

1 reference

18 April 2018

PMC publication ID

2680131

1 reference

18 April 2018

PubMed publication ID

18663743

1 reference

18 April 2018