Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation (Q33869662)

29 July 2017

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation (English)

1 reference

29 July 2017

6

Dumanski JP

1 reference

29 July 2017

5

Langford C

1 reference

29 July 2017

Ann-Charlotte Thuresson

1 reference

ORCID Public Data File 2021

author name string

Thuresson AC

1

1 reference

29 July 2017

Bondeson ML

2

1 reference

29 July 2017

Edeby C

3

1 reference

29 July 2017

Ellis P

4

1 reference

29 July 2017

Annerén G

7

1 reference

29 July 2017

language of work or name

1 reference

1 January 2007

1 reference

Cytogenetics and Genome Research

29 July 2017

1 reference

29 July 2017

118

1 reference

29 July 2017

1

1 reference

29 July 2017

1-7

1 reference

Global variation in copy number in the human genome

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Diagnostic genome profiling in mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Fine-scale structural variation of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Microduplication and triplication of 22q11.2: a highly variable syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Fully automatic quantification of microarray image data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Subtle chromosomal rearrangements in children with unexplained mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

5 July 2018

1 reference

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Recognizable patterns of human malformation. Genetic, embryologic and clinical aspects. Third edition.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874679

Multiplex ligation-dependent probe amplification using a completely synthetic probe set

29 October 2018

1 reference

12 December 2020

Partial monosomy 20q : a new syndrome. Regional assignment of the ADA locus on 20q132 (author's transl)

1 reference

12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

12 December 2020

A high-resolution survey of deletion polymorphism in the human genome

1 reference

12 December 2020

Identifiers

DOI

10.1159/000106434

1 reference

29 July 2017

1 reference

29 July 2017

1 reference