Genetic heterogeneity in Pakistani microcephaly families revisited. (Q41921320)

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1 April 2020

title

Genetic heterogeneity in Pakistani microcephaly families revisited (English)

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1

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1 April 2020

Muhammad Sajid Hussain

4

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1 April 2020

author name string

S M Baig

2

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1 April 2020

A R Abdulkareem

3

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1 April 2020

I Sur

5

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M R Toliat

6

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G Nürnberg

7

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N Dalibor

8

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A Moawia

9

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S S Waseem

10

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M Asif

11

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1 April 2020

H Nagra

12

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M Sher

13

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M M A Khan

14

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I Hassan

15

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S Ur Rehman

16

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H Thiele

17

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J Altmüller

18

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A A Noegel

19

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P Nürnberg

20

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publication date

22 February 2017

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volume

92

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issue

1

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page(s)

62-68

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Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

1 April 2020

cites work

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

21 January 2018

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

21 January 2018

1 reference

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

21 January 2018

1 reference

ASPM is a major determinant of cerebral cortical size

21 January 2018

1 reference

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

21 January 2018

1 reference

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

1 reference

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

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

21 January 2018

1 reference

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

21 January 2018

1 reference

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic heterogeneity in Pakistani microcephaly families.

21 January 2018

1 reference

Genetic causes of MCPH in consanguineous Pakistani families.

21 January 2018

1 reference

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

21 January 2018

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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

21 January 2018

1 reference

A Pocket on the Surface of the N-Terminal BRCT Domain of Mcph1 Is Required to Prevent Abnormal Chromosome Condensation

21 January 2018

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MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

21 January 2018

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

21 January 2018

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Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

21 January 2018

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Mutations in microcephalin cause aberrant regulation of chromosome condensation.

21 January 2018

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MCPH1: a window into brain development and evolution

21 January 2018

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A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

21 January 2018

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Kinetochore KMN network gene CASC5 mutated in primary microcephaly

21 January 2018

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Cerebral organoids model human brain development and microcephaly

21 January 2018

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The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

21 January 2018

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Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

21 January 2018

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

21 January 2018

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

21 January 2018

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Afghanistan's ethnic groups share a Y-chromosomal heritage structured by historical events

21 January 2018

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The Human Gene Mutation Database: 2008 update

21 January 2018

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Compound heterozygous ASPM mutations in Pakistani MCPH families

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12955

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1 April 2020

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