(Q41921770)

14 October 2017

0 references

Protein-truncating mutations in ASPM cause variable reduction in brain size (English)

1 reference

14 October 2017

0 references

0 references

15

Christopher A Walsh

1 reference

14 October 2017

17

C Geoffrey Woods

1 reference

14 October 2017

8

Raoul C M Hennekam

1 reference

14 October 2017

1

Jacquelyn Bond

1 reference

14 October 2017

4

Kelly Springell

1 reference

14 October 2017

7

Ganesh H Mochida

1 reference

14 October 2017

Sheila Scott

2

1 reference

14 October 2017

Daniel J Hampshire

3

1 reference

14 October 2017

Peter Corry

5

1 reference

14 October 2017

Marc J Abramowicz

6

1 reference

14 October 2017

Eamonn R Maher

9

1 reference

14 October 2017

Jean-Pierre Fryns

10

1 reference

14 October 2017

Abdulrahman Alswaid

11

1 reference

14 October 2017

Hussain Jafri

12

1 reference

14 October 2017

Yasmin Rashid

13

1 reference

14 October 2017

Ammar Mubaidin

14

1 reference

14 October 2017

Emma Roberts

16

1 reference

14 October 2017

language of work or name

English

0 references

publication date

21 October 2003

1 reference

American Journal of Human Genetics

14 October 2017

1 reference

14 October 2017

73

1 reference

14 October 2017

1170-1177

1 reference

14 October 2017

5

1 reference

Microcephaly in the Netherlands: a clinical and genetical study

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

ASPM is a major determinant of cerebral cortical size

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Identification of microcephalin, a protein implicated in determining the size of the human brain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Molecular genetics of human microcephaly

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

The novel murine calmodulin-binding protein Sha1 disrupts mitotic spindle and replication checkpoint functions in fission yeast

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

A cell division mutant of Drosophila with a functionally abnormal spindle.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Gross genetic dissection and interaction of the chromosomal region 95E;96F of Drosophila melanogaster

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

A possible major contribution to mental retardation in the general population by the gene for microcephaly

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180496

5 June 2018

Identifiers

DOI

10.1086/379085

1 reference

14 October 2017

1 reference

14 October 2017

1 reference