Literature DB >> 22362999

Genetics. Mendelian puzzles.

Aravinda Chakravarti1, Ashish Kapoor.   

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Year:  2012        PMID： 22362999     DOI： 10.1126/science.1219301

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  6 in total

1.  A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.

Authors:  Sofia Bhatia; Shiwali Goyal; Indu R Singh; Daljit Singh; Vanita Vanita
Journal:  Doc Ophthalmol       Date:  2018-08-11       Impact factor: 2.379

2.  Transcriptome study of differential expression in schizophrenia.

Authors:  Alan R Sanders; Harald H H Göring; Jubao Duan; Eugene I Drigalenko; Winton Moy; Jessica Freda; Deli He; Jianxin Shi; Pablo V Gejman
Journal:  Hum Mol Genet       Date:  2013-07-30       Impact factor: 6.150

3.  A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.

Authors:  Jessica A Lehoczky; Peedikayil E Thomas; Kevin M Patrie; Kailey M Owens; Lisa M Villarreal; Kenneth Galbraith; Joe Washburn; Craig N Johnson; Bryant Gavino; Alexander D Borowsky; Kathleen J Millen; Paul Wakenight; William Law; Margaret L Van Keuren; Galina Gavrilina; Elizabeth D Hughes; Thomas L Saunders; Lesil Brihn; Joseph H Nadeau; Jeffrey W Innis
Journal:  PLoS Genet       Date:  2013-12-05       Impact factor: 5.917

4.  Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Authors:  Anna M Rose; Amna Z Shah; Giulia Venturini; Abhay Krishna; Aravinda Chakravarti; Carlo Rivolta; Shomi S Bhattacharya
Journal:  Sci Rep       Date:  2016-01-19       Impact factor: 4.379

Review 5.  From genes to health - challenges and opportunities.

Authors:  Muhammad Ramzan Manwar Hussain; Asifullah Khan; Hussein Sheikh Ali Mohamoud
Journal:  Front Pediatr       Date:  2014-03-03       Impact factor: 3.418

6.  Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis.

Authors:  Julia Pytte; Ryan S Anderton; Loren L Flynn; Frances Theunissen; Leanne Jiang; Ianthe Pitout; Ian James; Frank L Mastaglia; Ann M Saunders; Richard Bedlack; Teepu Siddique; Nailah Siddique; P Anthony Akkari
Journal:  Neurol Genet       Date:  2020-02-27
  6 in total

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