Literature DB >> 24691052

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Hao Hu1, Vanessa Suckow1, Luciana Musante1, Viola Roggenkamp2, Nadine Kraemer3, Hans-Hilger Ropers1, Christoph Hübner2, Thomas F Wienker1, Angela M Kaindl3.   

Abstract

Entities:  

Keywords:  ASPM; MCPH; Reunion paradox; compound heterozygous mutation; congenital microcephaly; intellectual deficit

Mesh：

Substances：

Year:  2014        PMID： 24691052      PMCID： PMC4050170          DOI： 10.4161/cc.28706

Source DB:  PubMed          Journal:  Cell Cycle        ISSN： 1551-4005            Impact factor:   4.534


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  8 in total

1.  The effect of population stratification on the frequency of compound heterozygosity.

Authors:  Andrew D J Overall
Journal:  Genetica       Date:  2011-03-10       Impact factor: 1.082

2.  Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

Authors:  J Zlotogora; V Gieselmann; G Bach
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

3.  Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.

Authors:  Juan Alberto Marchal; Mahdi Ghani; Detlev Schindler; Ioannis Gavvovidis; Tina Winkler; Veronique Esquitino; Nadine Sternberg; Andreas Busche; Peter Krawitz; Joachim Hecht; Peter Robinson; Stephan Mundlos; Luitgard Graul-Neumann; Karl Sperling; Marc Trimborn; Heidemarie Neitzel
Journal:  Cell Cycle       Date:  2011-09-01       Impact factor: 4.534

4.  Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Authors:  S Passemard; L Titomanlio; M Elmaleh; A Afenjar; J-L Alessandri; G Andria; T Billette de Villemeur; O Boespflug-Tanguy; L Burglen; E Del Giudice; F Guimiot; C Hyon; B Isidor; A Mégarbané; U Moog; S Odent; K Hernandez; N Pouvreau; I Scala; M Schaer; P Gressens; B Gerard; Alain Verloes
Journal:  Neurology       Date:  2009-09-22       Impact factor: 9.910

Review 5.  Many roads lead to primary autosomal recessive microcephaly.

Authors:  Angela M Kaindl; Sandrine Passemard; Pavan Kumar; Nadine Kraemer; Lina Issa; Angelika Zwirner; Benedicte Gerard; Alain Verloes; Shyamala Mani; Pierre Gressens
Journal:  Prog Neurobiol       Date:  2009-12-02       Impact factor: 11.685

6.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Authors:  I Richard; O Broux; V Allamand; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; C Roudaut
Journal:  Cell       Date:  1995-04-07       Impact factor: 41.582

7.  The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Authors:  Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Prakash Gorroochurn; Susan E Hodge; Angela M Christiano
Journal:  Hum Hered       Date:  2009-04-09       Impact factor: 0.444

Review 8.  Primary microcephaly: do all roads lead to Rome?

Authors:  Gemma K Thornton; C Geoffrey Woods
Journal:  Trends Genet       Date:  2009-10-21       Impact factor: 11.639
  8 in total
  1 in total

1.  Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.

Authors:  Ayberk Türkyılmaz; Safiye Gunes Sager
Journal:  Mol Syndromol       Date:  2021-09-15
  1 in total

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