Clinical studies on submicroscopic subtelomeric rearrangements: a checklist (Q35437015)

8 August 2017

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist (English)

1 reference

8 August 2017

14

Flint J

1 reference

8 August 2017

de Vries BB

1

1 reference

8 August 2017

White SM

2

1 reference

8 August 2017

Knight SJ

3

1 reference

8 August 2017

Regan R

4

1 reference

8 August 2017

Homfray T

5

1 reference

8 August 2017

Young ID

6

1 reference

8 August 2017

Super M

7

1 reference

8 August 2017

McKeown C

8

1 reference

8 August 2017

Splitt M

9

1 reference

8 August 2017

Quarrell OW

10

1 reference

8 August 2017

Trainer AH

11

1 reference

8 August 2017

Niermeijer MF

12

1 reference

8 August 2017

Malcolm S

13

1 reference

8 August 2017

Hurst JA

15

1 reference

8 August 2017

Winter RM

16

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 March 2001

1 reference

Journal of Medical Genetics

8 August 2017

1 reference

8 August 2017

38

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3

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8 August 2017

145-150

1 reference

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

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=1734836

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

Two 22q telomere deletions serendipitously detected by 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=1734836

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

The prevalence of mental retardation: a critical review of recent 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=1734836

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=1734836

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in 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=1734836

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734836

Prenatal diagnosis in CDG1 families: beware of heterogeneity

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11238680

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.38.3.145

1 reference

8 August 2017

1 reference

8 August 2017

1 reference