(Q36930079)

English

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

scientific article published on 30 September 2005

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities (English)

1 reference

Europe PubMed Central

17 August 2017

0 references

0 references

author name string

Ravnan JB

1

1 reference

Europe PubMed Central

17 August 2017

Tepperberg JH

2

1 reference

Europe PubMed Central

17 August 2017

Papenhausen P

3

1 reference

Europe PubMed Central

17 August 2017

Lamb AN

4

1 reference

Europe PubMed Central

17 August 2017

Hedrick J

5

1 reference

Europe PubMed Central

17 August 2017

Eash D

6

1 reference

Europe PubMed Central

17 August 2017

Ledbetter DH

7

1 reference

Europe PubMed Central

17 August 2017

Martin CL

8

1 reference

Europe PubMed Central

17 August 2017

language of work or name

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publication date

30 September 2005

1 reference

Europe PubMed Central

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

17 August 2017

43

1 reference

Europe PubMed Central

17 August 2017

478-489

1 reference

Europe PubMed Central

17 August 2017

6

1 reference

Europe PubMed Central

17 August 2017

Segmental duplications and copy-number 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=2564531

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

29 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=2564531

29 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=2564531

29 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=2564531

29 September 2017

Diagnostic evaluation of developmental delay/mental retardation: An overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

29 September 2017

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

29 September 2017

Subtle chromosomal rearrangements in children with unexplained mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

29 September 2017

Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

29 September 2017

Sequence organization of the human chromosome 2q telomere.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

27 June 2018

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

4 September 2018

Subtelomere deletions and translocations are frequently familial.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

4 September 2018

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

4 September 2018

Subtelomeric rearrangements as neutral genomic polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

4 September 2018

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

4 September 2018

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564531

4 September 2018

The end of the beginning of chromosome ends

1 reference

https://pubmed.ncbi.nlm.nih.gov/16199540

12 December 2020

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Identifiers

10.1136/JMG.2005.036350

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

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