(Q41921320)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28004384%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

title

Genetic heterogeneity in Pakistani microcephaly families revisited (English)

1 reference

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1 April 2020

0 references

1 reference

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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1 April 2020

M R Toliat

6

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1 April 2020

G Nürnberg

7

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1 April 2020

N Dalibor

8

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1 April 2020

A Moawia

9

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1 April 2020

S S Waseem

10

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1 April 2020

M Asif

11

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1 April 2020

H Nagra

12

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1 April 2020

M Sher

13

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1 April 2020

M M A Khan

14

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1 April 2020

I Hassan

15

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1 April 2020

S Ur Rehman

16

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1 April 2020

H Thiele

17

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1 April 2020

J Altmüller

18

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1 April 2020

A A Noegel

19

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1 April 2020

P Nürnberg

20

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1 April 2020

publication date

22 February 2017

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1 April 2020

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1 April 2020

volume

92

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1 April 2020

issue

1

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1 April 2020

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

1 reference

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

21 January 2018

1 reference

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

1 reference

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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

21 January 2018

1 reference

MCPH1: a window into brain development and evolution

21 January 2018

1 reference

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

21 January 2018

1 reference

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

21 January 2018

1 reference

Cerebral organoids model human brain development and microcephaly

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Compound heterozygous ASPM mutations in Pakistani MCPH families

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12955

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28004384%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

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