(Q41918180)

14 October 2017

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

1 reference

Autosomal recessive primary microcephaly

14 October 2017

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author name string

Asma Gul

1

1 reference

14 October 2017

Muhammad Tariq

2

1 reference

14 October 2017

Muhammad Nasim Khan

3

1 reference

14 October 2017

Muhammad Jawad Hassan

4

1 reference

14 October 2017

Ghazanfar Ali

5

1 reference

14 October 2017

Wasim Ahmad

6

1 reference

14 October 2017

language of work or name

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1 July 2007

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14 October 2017

Journal of Neurogenetics

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14 October 2017

21

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14 October 2017

3

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14 October 2017

153-163

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ASPM is a major determinant of cerebral cortical size

14 October 2017

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

Protein-truncating mutations in ASPM cause variable reduction in brain size

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

What primary microcephaly can tell us about brain growth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

A combined linkage-physical map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

ASPM mutations identified in patients with primary microcephaly and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060701508594

10.1080/01677060701508594

21 January 2018

Identifiers

DOI

1 reference

release_eq3iid7lenehpitpz45gda5osu

14 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/eq3iid7lenehpitpz45gda5osu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference