3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome (Q24533585)

4 July 2017

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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome (English)

1 reference

4 July 2017

main subject

microdeletion syndrome

1 reference

14

Erik A Sistermans

1 reference

4 July 2017

David R FitzPatrick

7

0 references

Elisabet Dachs Cabanas

object named as

Elisabet Dachs Cabanas

4

0 references

Bert B A de Vries

17

object named as

Bert B A de Vries

1 reference

4 July 2017

Lionel Willatt

1

1 reference

4 July 2017

James Cox

2

1 reference

4 July 2017

John Barber

3

1 reference

4 July 2017

Amanda Collins

5

1 reference

4 July 2017

Dian Donnai

6

1 reference

4 July 2017

Eddy Maher

8

1 reference

4 July 2017

Howard Martin

9

1 reference

4 July 2017

Josep Parnau

10

1 reference

4 July 2017

Lesley Pindar

11

1 reference

4 July 2017

Jacqueline Ramsay

12

1 reference

4 July 2017

Charles Shaw-Smith

13

1 reference

4 July 2017

Michael Tettenborn

15

1 reference

4 July 2017

Dorothy Trump

16

1 reference

4 July 2017

Kate Walker

18

1 reference

4 July 2017

F Lucy Raymond

19

1 reference

4 July 2017

language of work or name

English

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publication date

25 May 2005

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

77

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4 July 2017

issue

1

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4 July 2017

page(s)

154-160

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Subtle chromosomal rearrangements in children with unexplained mental retardation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

PAK3 mutation in nonsyndromic X-linked mental retardation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Telomeres: a diagnosis at the end of the chromosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Quaternary structure, protein dynamics, and synaptic function of SAP97 controlled by L27 domain interactions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226188

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15918153

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/431653

1 reference

OpenCitations bibliographic resource ID

4 July 2017

986392

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference