Literature DB >> 13812499

The genetics and sub-classification of microcephaly.

V COWIE.   

Abstract

Keywords:  MICROCEPHALY/genetics

Mesh：

Year:  1960        PMID： 13812499     DOI： 10.1111/j.1365-2788.1960.tb00751.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


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  11 in total

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

Authors:  C R Jamieson; C Govaerts; M J Abramowicz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Autosomal recessive microcephaly associated with chorioretinopathy.

Authors:  J M Cantú; J A Rojas; D García-Cruz; A Hernández; P Pagán; R Fragoso; C Manzano
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

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

Authors:  A P Jackson; D P McHale; D A Campbell; H Jafri; Y Rashid; J Mannan; G Karbani; P Corry; M I Levene; R F Mueller; A F Markham; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

4.  Segregation frequency in microcephaly.

Authors:  M Sujatha; C K Kumari; J S Murty
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

Review 5.  Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors:  C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal:  Am J Hum Genet       Date:  2005-03-31       Impact factor: 11.025

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

Authors:  L Moynihan; A P Jackson; E Roberts; G Karbani; I Lewis; P Corry; G Turner; R F Mueller; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

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

Authors:  C R Jamieson; J P Fryns; J Jacobs; G Matthijs; M J Abramowicz
Journal:  Am J Hum Genet       Date:  2000-11-06       Impact factor: 11.025

8.  Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Authors:  Arun Kumar; Satish C Girimaji; Mahesh R Duvvari; Susan H Blanton
Journal:  Am J Hum Genet       Date:  2009-02       Impact factor: 11.025

Review 9.  Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Authors:  Muhammad Naveed; Syeda Khushbakht Kazmi; Mariyam Amin; Zainab Asif; Ushna Islam; Kinza Shahid; Sana Tehreem
Journal:  Genet Res (Camb)       Date:  2018-08-08       Impact factor: 1.588

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

Authors:  E Roberts; D J Hampshire; L Pattison; K Springell; H Jafri; P Corry; J Mannon; Y Rashid; Y Crow; J Bond; C G Woods
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318
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