(Q34142585)

31 July 2017

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes (English)

1 reference

31 July 2017

4

1 reference

31 July 2017

J G Gleeson

1

1 reference

31 July 2017

S Minnerath

2

1 reference

31 July 2017

R I Kuzniecky

3

1 reference

31 July 2017

I D Young

5

1 reference

31 July 2017

M E Ross

6

1 reference

31 July 2017

C A Walsh

7

1 reference

31 July 2017

language of work or name

English

0 references

publication date

27 July 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

67

1 reference

31 July 2017

574-581

1 reference

31 July 2017

3

1 reference

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Review and hypotheses: somatic mosaicism: observations related to clinical 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=1287517

Genetic and neuroradiological heterogeneity of double cortex syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Cortin disaster: lissencephaly genes spell double trouble for the developing brain.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

X-linked female band heterotopia-male lissencephaly syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

[Familial Miller-Dieker syndrome and (15;17) chromosome translocation]

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287517

28 October 2018

Identifiers

DOI

10.1086/303043

1 reference

31 July 2017

1 reference

31 July 2017

1 reference