(Q37979241)

26 August 2017

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? (English)

1 reference

disability affecting intellectual abilities

26 August 2017

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intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

P Grzmil

11

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Bernd Auber

object named as

B Auber

3

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author name string

M Shoukier

1

1 reference

26 August 2017

N Klein

2

1 reference

26 August 2017

J Wickert

4

1 reference

26 August 2017

J Schröder

5

1 reference

26 August 2017

B Zoll

6

1 reference

26 August 2017

P Burfeind

7

1 reference

26 August 2017

I Bartels

8

1 reference

26 August 2017

E A Alsat

9

1 reference

26 August 2017

M Lingen

10

1 reference

26 August 2017

S Schulze

12

1 reference

26 August 2017

J Keyser

13

1 reference

26 August 2017

D Weise

14

1 reference

26 August 2017

M Borchers

15

1 reference

26 August 2017

E Hobbiebrunken

16

1 reference

26 August 2017

M Röbl

17

1 reference

26 August 2017

J Gärtner

18

1 reference

26 August 2017

K Brockmann

19

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26 August 2017

B Zirn

20

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26 August 2017

21 February 2012

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26 August 2017

1 reference

26 August 2017

83

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26 August 2017

1

1 reference

26 August 2017

53-65

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

26 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Chromosome 5q subtelomeric deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

A novel microdeletion/microduplication syndrome of 19p13.13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Phenotypic spectrum associated with CASK loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

The 4q-syndrome: delineation of the minimal critical region to within band 4q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01850.X

10.1111/J.1399-0004.2012.01850.X

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference