(Q37135722)

18 August 2017

The molecular landscape of ASPM mutations in primary microcephaly (English)

1 reference

18 August 2017

0 references

13

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18 August 2017

M Fichera

11

0 references

Corrado Romano

object named as

C Romano

12

0 references

C Geoffrey Woods

14

object named as

C G Woods

1 reference

18 August 2017

A K Nicholas

1

1 reference

18 August 2017

E A Swanson

2

1 reference

18 August 2017

J J Cox

3

1 reference

18 August 2017

G Karbani

4

1 reference

18 August 2017

S Malik

5

1 reference

18 August 2017

K Springell

6

1 reference

18 August 2017

D Hampshire

7

1 reference

18 August 2017

M Ahmed

8

1 reference

18 August 2017

J Bond

9

1 reference

18 August 2017

D Di Benedetto

10

1 reference

18 August 2017

language of work or name

English

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publication date

21 November 2008

1 reference

Journal of Medical Genetics

18 August 2017

1 reference

18 August 2017

46

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18 August 2017

4

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18 August 2017

249-253

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

14 September 2017

Microcephaly syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Microcephalin: a causal link between impaired damage response signalling and microcephaly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

What primary microcephaly can tell us about brain growth.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

ASPM is a major determinant of cerebral cortical size

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Molecular genetics of human microcephaly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Pitfalls in homozygosity mapping.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Microcephaly: general considerations and aids to nosology

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

A clinical and genetical study of microcephaly.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Significance of microcephaly among children with developmental disabilities

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Nonspecific mental retardation in British Columbia as ascertained through a registry

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Recurrence risks in severe undiagnosed mental deficiency

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Head circumference charts updated

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

Microcephalin encodes a centrosomal protein.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

ASPM mutations identified in patients with primary microcephaly and seizures

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2658750

3 September 2018

Identifiers

DOI

10.1136/JMG.2008.062380

1 reference

18 August 2017

1 reference

18 August 2017

1 reference