(Q33900101)

29 July 2017

title

Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes (English)

1 reference

29 July 2017

Alexandra Badea

2

0 references

Robert W. Williams

object named as

Robert W Williams

series ordinal

3

0 references

author name string

Martin Poot

series ordinal

1

1 reference

29 July 2017

Martien J Kas

series ordinal

4

1 reference

29 July 2017

language of work or name

English

0 references

publication date

4 May 2011

1 reference

29 July 2017

1 reference

29 July 2017

volume

6

1 reference

29 July 2017

issue

5

1 reference

29 July 2017

page(s)

e18612

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

4 May 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

1 reference

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Functional modules, mutational load and human genetic disease

5 July 2018

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Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

5 July 2018

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A developmental and genetic classification for midbrain-hindbrain malformations

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Understanding the mechanisms of callosal development through the use of transgenic mouse models

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Identification of the UBP1 locus as a critical blood pressure determinant using a combination of mouse and human genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Genetic dissection of the mouse CNS using magnetic resonance microscopy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Total brain volume and corpus callosum size in medication-naïve adolescents and young adults with autism spectrum disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Genetic dissection of the mouse brain using high-field magnetic resonance microscopy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Neuroimaging techniques offer new perspectives on callosal transfer and interhemispheric communication

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

5 July 2018

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Automated segmentation of the actively stained mouse brain using multi-spectral MR microscopy

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Morphometric analysis of the C57BL/6J mouse brain.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

High-throughput morphologic phenotyping of the mouse brain with magnetic resonance histology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Genetic analysis of susceptibility to isoniazid-induced seizures in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Piecing together a ciliome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Forty-five years of split-brain research and still going strong

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

WebQTL: web-based complex trait analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Nonrigid registration using free-form deformations: application to breast MR images

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Use of recombinant inbred strains to detect quantitative trait loci associated with behavior

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3087714

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

GATHER: a systems approach to interpreting genomic signatures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

6q subtelomeric deletion: is there a recognizable syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Interspecies trait genetics reveals association of Adcy8 with mouse avoidance behavior and a human mood disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Enhanced T2 contrast for MR histology of the mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0018612

Recombinant Inbred Lines: Value in the Genetic Analysis of Biochemical Variants

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21572526

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21572526

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21572526

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0018612

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference