(Q35946247)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

11 August 2017

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

1 reference

Europe PubMed Central

11 August 2017

0 references

postnatal microcephaly

1 reference

based on heuristic

inferred from title

agenesis of the corpus callosum

1 reference

based on heuristic

inferred from title

William B. Dobyns

12

1 reference

Europe PubMed Central

11 August 2017

13

1 reference

Europe PubMed Central

11 August 2017

Kathleen J Millen

object named as

Kathleen J Millen

10

0 references

7

object named as

Elaine Zackai

1 reference

Europe PubMed Central

11 August 2017

4

object named as

Shane McKee

1 reference

Europe PubMed Central

11 August 2017

author name string

Elena Boland

1

1 reference

Europe PubMed Central

11 August 2017

Jill Clayton-Smith

2

1 reference

Europe PubMed Central

11 August 2017

Victoria G Woo

3

1 reference

Europe PubMed Central

11 August 2017

Forbes D C Manson

5

1 reference

Europe PubMed Central

11 August 2017

Livija Medne

6

1 reference

Europe PubMed Central

11 August 2017

Eric A Swanson

8

1 reference

Europe PubMed Central

11 August 2017

David Fitzpatrick

9

1 reference

Europe PubMed Central

11 August 2017

Elliott H Sherr

11

1 reference

Europe PubMed Central

11 August 2017

language of work or name

0 references

publication date

13 June 2007

1 reference

Europe PubMed Central

11 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

11 August 2017

81

1 reference

Europe PubMed Central

11 August 2017

292-303

1 reference

Europe PubMed Central

11 August 2017

2

1 reference

Europe PubMed Central

11 August 2017

A large field CCD system for quantitative imaging of microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Role for Akt3/protein kinase Bgamma in attainment of normal brain size

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Control of roof plate formation by Lmx1a in the developing spinal cord

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Ultraconserved Elements in the Human Genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

A portrait of AKT kinases: human cancer and animal models depict a family with strong individualities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Protein kinase B alpha/Akt1 regulates placental development and fetal growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Mutations in SOX2 cause anophthalmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Fully automatic quantification of microarray image data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

A human protein kinase Bgamma with regulatory phosphorylation sites in the activation loop and in the C-terminal hydrophobic domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

A specific syndrome due to deletion of the distal long arm of chromosome 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

2 October 2017

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

11 July 2018

Essential role of protein kinase B gamma (PKB gamma/Akt3) in postnatal brain development but not in glucose homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

Akt1/PKBalpha is required for normal growth but dispensable for maintenance of glucose homeostasis in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

Association of terminal chromosome 1 deletion with sertoli cell-only syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

24 September 2018

Chromosome 1q42 deletion and agenesis of the corpus callosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950798

14 November 2018

Position effect in human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17668379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and Distribution of rRP58, A Novel Neuronal Gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17668379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17668379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances

1 reference

https://pubmed.ncbi.nlm.nih.gov/17668379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17668379

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35946247&oldid=1862671590"