(Q41933585)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22775483%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Genetic heterogeneity in Pakistani microcephaly families (English)

1 reference

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7 February 2020

0 references

1 reference

4

1 reference

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7 February 2020

Niels Tommerup

9

1 reference

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7 February 2020

author name string

M Sajid Hussain

1

1 reference

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7 February 2020

S Marriam Bakhtiar

2

1 reference

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7 February 2020

M Farooq

3

1 reference

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7 February 2020

E Janzen

5

1 reference

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7 February 2020

M Reza Toliat

6

1 reference

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7 February 2020

H Eiberg

7

1 reference

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7 February 2020

K W Kjaer

8

1 reference

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7 February 2020

A A Noegel

10

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7 February 2020

P Nürnberg

11

1 reference

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7 February 2020

S M Baig

12

1 reference

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7 February 2020

L Hansen

13

1 reference

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7 February 2020

publication date

7 August 2012

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7 February 2020

1 reference

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7 February 2020

volume

83

1 reference

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7 February 2020

issue

5

1 reference

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7 February 2020

page(s)

446-451

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

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Many roads lead to primary autosomal recessive microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Asterless is a scaffold for the onset of centriole assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Novel CENPJ mutation causes Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

Compound heterozygous ASPM mutations in Pakistani MCPH families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01932.X

10.1111/J.1399-0004.2012.01932.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22775483%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference