(Q33799838)

29 July 2017

0 references

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay (English)

1 reference

29 July 2017

Abdelhafid Natiq

1

1 reference

29 July 2017

Siham Chafai Elalaoui

2

1 reference

29 July 2017

Sevrine Miesch

3

1 reference

29 July 2017

Celine Bonnet

4

1 reference

29 July 2017

Philippe Jonveaux

5

1 reference

29 July 2017

Saaïd Amzazi

6

1 reference

29 July 2017

Abdelaziz Sefiani

7

1 reference

29 July 2017

publication date

5 June 2014

1 reference

29 July 2017

published in

Molecular Cytogenetics

1 reference

29 July 2017

volume

7

1 reference

29 July 2017

page(s)

40

1 reference

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

29 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=4068972

Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

Nuclear factor I X deficiency causes brain malformation and severe skeletal defects

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068972

A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.

4 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

Stepwise developmental regression associated with novel CACNA1A mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-40

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24963350

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-7-40

1 reference

29 July 2017

1 reference

29 July 2017

1 reference