Diagnostic genome profiling in mental retardation (Q34114527)

31 July 2017

Diagnostic genome profiling in mental retardation (English)

1 reference

31 July 2017

0 references

5

Lisenka E L M Vissers

1 reference

31 July 2017

12

Erik A Sistermans

1 reference

Adrianus Henricus Maria Geurts van Kessel

31 July 2017

15

Ad Geurts van Kessel

0 references

Joris A Veltman

Joris A Veltman

18

0 references

Han G. Brunner

17

Han G Brunner

1 reference

31 July 2017

8

Willy M Nillesen

1 reference

31 July 2017

2

Rolph Pfundt

1 reference

31 July 2017

4

David A Koolen

1 reference

31 July 2017

9

Erik H L P G Huys

1 reference

31 July 2017

Eric F P M Schoenmakers

16

Eric F P M Schoenmakers

1 reference

Conny M A van Ravenswaaij-Arts

31 July 2017

14

Conny M A van Ravenswaaij-Arts

1 reference

31 July 2017

10

Nicole de Leeuw

1 reference

31 July 2017

11

Dominique Smeets

1 reference

31 July 2017

13

Ton Feuth

1 reference

31 July 2017

1

Bert B A de Vries

1 reference

31 July 2017

6

Irene M Janssen

1 reference

31 July 2017

15

Ad Geurts van Kessel

1 reference

31 July 2017

Martijn Leisink

3

1 reference

31 July 2017

Simon van Reijmersdal

7

1 reference

31 July 2017

language of work or name

English

0 references

publication date

30 August 2005

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

77

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31 July 2017

606-616

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31 July 2017

4

1 reference

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

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Detection of large-scale variation in 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=1275609

Large-scale copy number polymorphism in 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=1275609

A set of BAC clones spanning 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=1275609

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=1275609

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=1275609

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Disease mechanisms in inherited neuropathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Telomeres: a diagnosis at the end of the chromosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Comparative study of methyl-CpG-binding domain proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

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=1275609

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Chromosomal microdeletions: dissecting del22q11 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=1275609

Chromosomal aberrations, subtelomeric defects, and 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=1275609

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=1275609

KIF5C, a novel neuronal kinesin enriched in motor neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

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=1275609

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=1275609

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=1275609

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

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=1275609

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Cytogenetics--in color and digitized.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275609

The end of the beginning of chromosome ends

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16175506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16175506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16175506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/491719

1 reference

31 July 2017

1 reference

31 July 2017

1 reference