(Q41921481)

14 October 2017

title

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

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14 October 2017

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Bruno Pichon

1

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14 October 2017

Sophie Vankerckhove

2

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14 October 2017

Georges Bourrouillou

3

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14 October 2017

Laurence Duprez

4

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14 October 2017

Marc J Abramowicz

5

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14 October 2017

publication date

1 May 2004

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European Journal of Human Genetics

14 October 2017

published in

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14 October 2017

volume

12

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14 October 2017

issue

5

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14 October 2017

page(s)

419-421

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Molecular genetics of human microcephaly

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

ASPM is a major determinant of cerebral cortical size

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

Is a gene for microcephaly located on chromosome 1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201169

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201169

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Dimensions Publication ID

14 October 2017

1038688757

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1 reference