"Molecular rulers" for calibrating phenotypic effects of telomere imbalance (Q35438232)

8 August 2017

title

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance (English)

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8 August 2017

C L Martin

1

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8 August 2017

D J Waggoner

2

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8 August 2017

A Wong

3

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8 August 2017

S Uhrig

4

1 reference

8 August 2017

J A Roseberry

5

1 reference

8 August 2017

J F Hedrick

6

1 reference

8 August 2017

S D Pack

7

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8 August 2017

K Russell

8

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8 August 2017

E Zackai

9

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8 August 2017

W B Dobyns

10

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8 August 2017

D H Ledbetter

11

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8 August 2017

language of work or name

English

0 references

publication date

1 October 2002

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

39

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8 August 2017

issue

10

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8 August 2017

page(s)

734-740

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

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

A case of insertional translocation resulting in partial trisomy 16p.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Subtle chromosomal rearrangements in children with unexplained mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Partial monosomy of distal 10q: three new cases and a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Sequence organization of the human chromosome 2q telomere

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Molecular studies of non-disjunction in trisomy 16.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Trisomy 16p in a liveborn infant and review of trisomy 16p.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

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.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital 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=1734978

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Integration of cytogenetic landmarks into the draft sequence of the human genome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

The promise and pitfalls of telomere region-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=1734978

Pulmonary hypertension and trisomy 16.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734978

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12362030

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/12362030

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.39.10.734

1 reference

8 August 2017

1 reference

8 August 2017

1 reference