(Q22337169)

3

Sandra M

Bell

1 reference

7 February 2023

Jimi Adu

4

Jimi

Adu

1 reference

7 February 2023

Emma Roberts

7

Emma

Roberts

1 reference

7 February 2023

Daniel J Hampshire

8

Daniel J

Hampshire

1 reference

7 February 2023

Gulshan Karbani

11

Gulshan

Karbani

1 reference

7 February 2023

Hussain Jafri

12

Hussain

Jafri

1 reference

7 February 2023

Yasmin Rashid

13

Yasmin

Rashid

1 reference

7 February 2023

Robert F Mueller

14

Robert F

American Journal of Human Genetics

Mueller

1 reference

7 February 2023

language of work or name

English

0 references

publication date

July 2002

0 references

published in

0 references

volume

71

0 references

page(s)

136-42

0 references

issue

1

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Assignment of ANGPT4, ANGPT1, and ANGPT2 encoding angiopoietins 4, 1 and 2 to human chromosome bands 20p13, 8q22.3-->q23 and 8p23.1, respectively, by in situ hybridization and radiation hybrid mapping

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Genetic study of microcephaly based on Japanese material

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Molecular genetics of human microcephaly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Neurogenesis and the evolution of cortical diversity: mode, tempo, and partitioning during development and persistence in adulthood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

The BRCA1 C-terminal domain: structure and function.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

A PCR procedure to determine the sequence of large polypeptides by rapid walking through a cDNA library

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Autoradiographic study of cell migration during histogenesis of cerebral cortex in the mouse.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

Detection of mrnas in sea urchin embryos by in situ hybridization using asymmetric RNA probes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419993

29 November 2018

Identifiers

DOI

10.1086/341283

1 reference

860290

860290

1 reference

1 reference

1 reference