(Q34328088)

1 August 2017

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients (English)

1 reference

1 August 2017

microdeletion syndrome

1 reference

13

Helen V Firth

1 reference

1 August 2017

14

Anita Rauch

1 reference

1 August 2017

Hartmut Engels

1

1 reference

1 August 2017

Eva Wohlleber

2

1 reference

1 August 2017

Alexander Zink

3

1 reference

1 August 2017

Juliane Hoyer

4

1 reference

1 August 2017

Kerstin U Ludwig

5

1 reference

1 August 2017

Felix F Brockschmidt

6

1 reference

1 August 2017

Dagmar Wieczorek

7

1 reference

1 August 2017

Ute Moog

8

1 reference

1 August 2017

Birgit Hellmann-Mersch

9

1 reference

1 August 2017

Ruthild G Weber

10

1 reference

1 August 2017

Lionel Willatt

11

1 reference

1 August 2017

Martina Kreiss-Nachtsheim

12

1 reference

1 August 2017

language of work or name

1 reference

27 May 2009

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

17

1 reference

1 August 2017

1592-1599

1 reference

1 August 2017

12

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.90

1 August 2017

0 references

cites work

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Genome-wide atlas of gene expression in the adult mouse brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Global variation in copy number in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Molecular basis of Mendelian idiopathic epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Mutations affecting development of the notochord in zebrafish.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

Vlgr1 knockout mice show audiogenic seizure susceptibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

Requirement for COUP-TFI and II in the temporal specification of neural stem cells in CNS development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987012

Myocyte Enhancer Factors 2A and 2C Induce Dilated Cardiomyopathy in Transgenic Mice

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.90

21 January 2018

Identifiers

DOI

10.1038/EJHG.2009.90

1 reference

Dimensions Publication ID

1 August 2017

1043378769

0 references

Fatcat ID

release_unzlhsqvdnawlbdvbfuyzdpn4q

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/unzlhsqvdnawlbdvbfuyzdpn4q

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

2987012

1 reference

1 August 2017

1 reference