(Q36402087)

English

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

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scholarly article

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Europe PubMed Central

PMC publication ID

14 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

congenital disorder

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Bernard Thienpont

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B Thienpont

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G Mortier

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author name string

B Menten

1

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Europe PubMed Central

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14 August 2017

N Maas

2

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14 August 2017

K Buysse

4

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14 August 2017

J Vandesompele

5

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14 August 2017

C Melotte

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Europe PubMed Central

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14 August 2017

T de Ravel

7

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Europe PubMed Central

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14 August 2017

S Van Vooren

8

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Europe PubMed Central

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14 August 2017

I Balikova

9

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14 August 2017

L Backx

10

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Europe PubMed Central

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14 August 2017

S Janssens

11

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14 August 2017

A De Paepe

12

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14 August 2017

B De Moor

13

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14 August 2017

Y Moreau

14

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14 August 2017

P Marynen

15

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14 August 2017

J-P Fryns

16

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14 August 2017

K Devriendt

18

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F Speleman

19

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J R Vermeesch

20

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14 August 2017

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publication date

20 February 2006

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14 August 2017

Journal of Medical Genetics

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14 August 2017

43

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14 August 2017

8

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14 August 2017

625-633

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Europe PubMed Central

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14 August 2017

Diagnostic genome profiling in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Del 1p36 syndrome: a newly emerging clinical entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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

1 reference

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30 September 2017

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

1 reference

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30 September 2017

Molecular karyotyping using an SNP array for genomewide genotyping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Telomeres: a diagnosis at the end of the chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Open source software for the analysis of microarray data.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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

1 reference

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30 September 2017

Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream

1 reference

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30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

30 September 2017

1;17 translocations and other chromosome 17 rearrangements in human primary neuroblastoma tumors and cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

28 June 2018

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

21 September 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564583

21 September 2018

Frequency of new copy number variation in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16490798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution array CGH increases heterogeneity tolerance in the analysis of clinical samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/16490798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.039453

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

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