(Q59615694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

0 references

1 reference

sensorineural hearing loss

1 reference

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Andrew Jackson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Samantha J.L. Knight

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

6

Louise S Bicknell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

9

Usha Kini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Alistair T Pagnamenta

1

object named as

Alistair T Pagnamenta

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Jennie E Murray

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Grace Yoon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Elham Sadighi Akha

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Victoria Harrison

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kaseem Ajilogba

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Helen Stewart

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

David A Keays

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

English

0 references

publication date

10 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

158A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

2577-2582

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

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

11 February 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

12 December 2020

Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia

1 reference

12 December 2020

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

1 reference

12 December 2020

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

1 reference

12 December 2020

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

1 reference

12 December 2020

Exome sequencing identifies the cause of a mendelian disorder

1 reference

12 December 2020

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

1 reference

12 December 2020

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

1 reference

12 December 2020

WDR62 is associated with the spindle pole and is mutated in human microcephaly

1 reference

12 December 2020

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

1 reference

12 December 2020

Adaptive evolution of four microcephaly genes and the evolution of brain size in anthropoid primates

1 reference

12 December 2020

Identification of incestuous parental relationships by SNP-based DNA microarrays.

1 reference

12 December 2020

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

1 reference

12 December 2020

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

1 reference

12 December 2020

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

1 reference

12 December 2020

ASPM is a major determinant of cerebral cortical size

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35558

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22887808%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

22887808

1 reference