(Q35438305)

8 August 2017

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

1 reference

Autosomal recessive primary microcephaly

8 August 2017

0 references

0 references

1 reference

11

Woods CG

1 reference

8 August 2017

Roberts E

1

1 reference

8 August 2017

Hampshire DJ

2

1 reference

8 August 2017

Pattison L

3

1 reference

8 August 2017

Springell K

4

1 reference

8 August 2017

Jafri H

5

1 reference

8 August 2017

Corry P

6

1 reference

8 August 2017

Mannon J

7

1 reference

8 August 2017

Rashid Y

8

1 reference

8 August 2017

Crow Y

9

1 reference

8 August 2017

Bond J

10

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 October 2002

1 reference

Journal of Medical Genetics

8 August 2017

1 reference

8 August 2017

39

1 reference

8 August 2017

718-721

1 reference

8 August 2017

10

1 reference

The genetics and sub-classification of microcephaly

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

Growth reference charts for use in the United Kingdom

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

Molecular genetics of human microcephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

Centiles for adult head circumference

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

A possible major contribution to mental retardation in the general population by the gene for microcephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734986

26 September 2018

Identifiers

DOI

10.1136/JMG.39.10.718

1 reference

Dimensions Publication ID

8 August 2017

10.1136/JMG.39.10.718

0 references

0 references

1 reference

8 August 2017

1 reference