(Q36526045)

14 August 2017

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability (English)

1 reference

14 August 2017

0 references

J Senderek

4

0 references

author name string

W Kleffmann

1

1 reference

14 August 2017

A M Zink

2

1 reference

14 August 2017

J A Lee

3

1 reference

14 August 2017

E Mangold

5

1 reference

14 August 2017

U Moog

6

1 reference

14 August 2017

G A Rappold

7

1 reference

14 August 2017

E Wohlleber

8

1 reference

14 August 2017

H Engels

9

1 reference

14 August 2017

25 July 2012

1 reference

14 August 2017

Molecular syndromology

1 reference

14 August 2017

3

1 reference

14 August 2017

2

1 reference

14 August 2017

68-75

1 reference

A copy number variation morbidity map of developmental delay

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Characterising and predicting haploinsufficiency in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Dominance and gene dosage balance in health and disease: why levels matter!

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Disruption of the neurexin 1 gene is associated with schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Alpha-catenin is essential in intestinal adenoma formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

The causality of de novo copy number variants is overestimated

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Developmentally regulated expression of the LRRTM gene family during mid-gestation mouse embryogenesis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542931

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23326251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23326251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23326251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000341252

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23326251

1 reference