(Q41919235)

14 October 2017

title

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene (English)

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14 October 2017

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Muzammil Ahmad Khan

1

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14 October 2017

Christian Windpassinger

2

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14 October 2017

Muhammad Zeeshan Ali

3

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14 October 2017

Muhammad Zubair

4

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14 October 2017

Hadia Gul

5

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14 October 2017

Safdar Abbas

6

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14 October 2017

Saadullah Khan

7

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14 October 2017

Muhammad Badar

8

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14 October 2017

Ramzi M Mohammad

9

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14 October 2017

Zafar Nawaz

10

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14 October 2017

publication date

1 June 2017

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14 October 2017

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14 October 2017

volume

96

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14 October 2017

issue

2

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14 October 2017

page(s)

383-387

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https://scigraph.springernature.com/pub.10.1007/s12041-017-0759-x

14 October 2017

exact match

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cites work

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Molecular and cellular basis of autosomal recessive primary microcephaly

21 January 2018

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CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Solution structure of the calponin CH domain and fitting to the 3D-helical reconstruction of F-actin:calponin

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Armadillo repeat proteins: beyond the animal kingdom

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Three-dimensional structure of the armadillo repeat region of beta-catenin

21 January 2018

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GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

The molecular landscape of ASPM mutations in primary microcephaly

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

Improved exome prioritization of disease genes through cross-species phenotype comparison

21 January 2018

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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

21 January 2018

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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-017-0759-X

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/28674240

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12041-017-0759-X

1 reference

14 October 2017

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