(Q41919643)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

Autosomal recessive primary microcephaly

20 January 2020

main subject

microcephaly

0 references

0 references

1 reference

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Teepu Siddique

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Asma Gul

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Muhammad Jawad Hassan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Saqib Mahmood

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Wenje Chen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Safa Rahmani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Muhammad Imran Naseer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Lisa Dellefave

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Noor Muhammad

8

1 reference

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20 January 2020

Muhammad Arshad Rafiq

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Muhammad Salman Chishti

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Ghazanfar Ali

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Wasim Ahmad

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

21 April 2006

1 reference

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20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

7

1 reference

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20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16673149%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

105-110

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10048-006-0042-4

20 January 2020

exact match

0 references

cites work

ASPM is a major determinant of cerebral cortical size

1 reference

12 December 2020

Molecular genetics of human microcephaly

1 reference

12 December 2020

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

1 reference

12 December 2020

Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytoskeletal genes regulating brain size

1 reference

12 December 2020

Calmodulin signaling via the IQ motif

1 reference

12 December 2020

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

1 reference

12 December 2020

Comprehensive human genetic maps: individual and sex-specific variation in recombination

1 reference

12 December 2020

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

1 reference

12 December 2020

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

1 reference

12 December 2020

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

1 reference

12 December 2020

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

1 reference

12 December 2020

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

1 reference

12 December 2020

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

1 reference

12 December 2020

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

1 reference

12 December 2020

ASPM mutations identified in patients with primary microcephaly and seizures

1 reference

12 December 2020

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

1 reference

12 December 2020

Recessive (true) microcephaly: a case report with neuropathological observations

1 reference

12 December 2020

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice

1 reference

12 December 2020

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.

1 reference

12 December 2020