Literature DB >> 12843329

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.

G F Leal, E Roberts, E O Silva, S M R Costa, D J Hampshire, C G Woods.   

Abstract

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Year:  2003        PMID： 12843329      PMCID： PMC1735531          DOI： 10.1136/jmg.40.7.540

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  32 in total

1.  Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.

Authors:  Wenyu Ding; Qian Wu; Le Sun; Na Clara Pan; Xiaoqun Wang
Journal:  J Neurosci       Date:  2019-01-09       Impact factor: 6.167

Review 2.  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

Review 3.  The journey of Zika to the developing brain.

Authors:  Francesca Rombi; Richard Bayliss; Andrew Tuplin; Sharon Yeoh
Journal:  Mol Biol Rep       Date:  2020-03-03       Impact factor: 2.316

4.  A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Authors:  Asma Gul; Muhammad Jawad Hassan; Sabir Hussain; Syed Irfan Raza; Muhammad Salman Chishti; Wasim Ahmad
Journal:  J Hum Genet       Date:  2006-08-10       Impact factor: 3.172

5.  In silico identification of new genetic variations as potential risk factors for Alzheimer's disease in a microarray-oriented simulation.

Authors:  R R Lemos; C H Castelletti; J L Lima Filho; E T Marques; J R M Oliveira
Journal:  J Mol Neurosci       Date:  2009-03-17       Impact factor: 3.444

6.  Sex-dependent association of common variants of microcephaly genes with brain structure.

Authors:  Lars M Rimol; Ingrid Agartz; Srdjan Djurovic; Andrew A Brown; J Cooper Roddey; Anna K Kähler; Morten Mattingsdal; Lavinia Athanasiu; Alexander H Joyner; Nicholas J Schork; Eric Halgren; Kjetil Sundet; Ingrid Melle; Anders M Dale; Ole A Andreassen
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-22       Impact factor: 11.205

7.  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

8.  Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Authors:  Marc Trimborn; Sandra M Bell; Clive Felix; Yasmin Rashid; Hussain Jafri; Paul D Griffiths; Luitgard M Neumann; Alice Krebs; André Reis; Karl Sperling; Heidemarie Neitzel; Andrew P Jackson
Journal:  Am J Hum Genet       Date:  2004-06-15       Impact factor: 11.025

9.  Protein-truncating mutations in ASPM cause variable reduction in brain size.

Authors:  Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganesh H Mochida; Raoul C M Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar Mubaidin; Christopher A Walsh; Emma Roberts; C Geoffrey Woods
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

Review 10.  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
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