(Q51891064)

17 April 2018

title

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. (English)

1 reference

17 April 2018

5

Vidar M Steen

1 reference

17 April 2018

author name string

Helle Lybaek

1

1 reference

17 April 2018

Leonardo A Meza-Zepeda

2

1 reference

17 April 2018

Stine H Kresse

3

1 reference

17 April 2018

Trude Høysaeter

4

1 reference

17 April 2018

Gunnar Houge

6

1 reference

17 April 2018

publication date

7 May 2008

1 reference

17 April 2018

European Journal of Human Genetics

published in

1 reference

17 April 2018

volume

16

1 reference

17 April 2018

issue

11

1 reference

17 April 2018

page(s)

1318-1328

1 reference

17 April 2018

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.78

exact match

0 references

cites work

The prevalence of mental retardation: a critical review of recent literature.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

High resolution comparative genomic hybridisation in clinical cytogenetics

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Diagnostic genome profiling in mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Medical applications of array CGH and the transformation of clinical cytogenetics

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Array comparative genomic hybridization reveals distinct DNA copy number differences between gastrointestinal stromal tumors and leiomyosarcomas

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

M-CGH: analysing microarray-based CGH experiments

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Mutations in RAI1 associated with Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Localization of a gene for Duane retraction syndrome to chromosome 2q31

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Neuronal abnormalities in microtubule-associated protein 1B mutant mice

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Trisomy 14 mosaicism: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.78

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.78

1 reference

17 April 2018

1 reference

17 April 2018