(Q35447657)

8 August 2017

title

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations (English)

1 reference

8 August 2017

Le Caignec C

1

1 reference

8 August 2017

Boceno M

2

1 reference

8 August 2017

Saugier-Veber P

3

1 reference

8 August 2017

Jacquemont S

4

1 reference

8 August 2017

Joubert M

5

1 reference

8 August 2017

David A

6

1 reference

8 August 2017

Frebourg T

7

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8 August 2017

Rival JM

8

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8 August 2017

language of work or name

English

0 references

publication date

1 February 2005

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

42

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8 August 2017

issue

2

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8 August 2017

page(s)

121-128

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Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

8 August 2017

cites work

1 reference

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Genomic imbalances in mental retardation

27 July 2018

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

27 July 2018

1 reference

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BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

27 July 2018

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Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.

27 July 2018

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Telomeres: a diagnosis at the end of the chromosomes

27 July 2018

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PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

27 July 2018

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High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Assembly of microarrays for genome-wide measurement of DNA copy number

27 July 2018

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An optimized set of human telomere clones for studying telomere integrity and architecture.

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Detection of chromosomal aberrations by a whole-genome microsatellite screen

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Subtle chromosomal rearrangements in children with unexplained mental retardation

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

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

27 July 2018

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Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Chromosome 22q11 deletion presenting as the Potter sequence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Insulin-like growth factor I and its binding proteins in the cardiovascular system

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Congenital malformations (second of two parts).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Medical progress. Congenital malformations: etiologic factors and their role in prevention (first of two parts).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

High resolution comparative genomic hybridisation in clinical cytogenetics

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Contribution of congenital malformations to perinatal mortality. A 10 years prospective regional study in The Netherlands

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735978

Trisomy 18qter and trisomy mapping of chromosome 18

26 September 2018

1 reference

12 December 2020

Malformations due to presumed spontaneous mutations in newborn infants

1 reference

12 December 2020

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

1 reference

12 December 2020

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

1 reference

12 December 2020

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

The end of the beginning of chromosome ends

1 reference

12 December 2020

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.025478

1 reference

8 August 2017

1 reference

8 August 2017

1 reference