Literature DB >> 16195711

Allegro version 2.

Daniel F Gudbjartsson, Thorvaldur Thorvaldsson, Augustine Kong, Gunnar Gunnarsson, Anna Ingolfsdottir.   

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Year:  2005        PMID： 16195711     DOI： 10.1038/ng1005-1015

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  89 in total

1.  Computer simulation is an undervalued tool for genetic analysis: a historical view and presentation of SHIMSHON--a Web-based genetic simulation package.

Authors:  David A Greenberg
Journal:  Hum Hered       Date:  2011-12-23       Impact factor: 0.444

2.  Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility.

Authors:  Kylee L Spencer; Lana M Olson; Nathalie Schnetz-Boutaud; Paul Gallins; Gaofeng Wang; William K Scott; Anita Agarwal; Johanna Jakobsdottir; Yvette Conley; Daniel E Weeks; Michael B Gorin; Margaret A Pericak-Vance; Jonathan L Haines
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-28       Impact factor: 4.799

3.  Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Authors:  Hiroshi Doi; Kunihiro Yoshida; Takao Yasuda; Mitsunori Fukuda; Yoko Fukuda; Hiroshi Morita; Shu-ichi Ikeda; Rumiko Kato; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Haruya Sakai; Satoko Miyatake; Masaaki Shiina; Nobuyuki Nukina; Shigeru Koyano; Shoji Tsuji; Yoshiyuki Kuroiwa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2011-08-12       Impact factor: 11.025

4.  Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele.

Authors:  Douglas J Swanson; Ekaterina Y Steshina; Paul Wakenight; Kimberly A Aldinger; Dan Goldowitz; Kathleen J Millen; Victor V Chizhikov
Journal:  Eur J Neurosci       Date:  2010-08-16       Impact factor: 3.386

5.  Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Authors:  A B Ekici; D Hilfinger; M Jatzwauk; C T Thiel; D Wenzel; I Lorenz; E Boltshauser; T W Goecke; G Staatz; D J Morris-Rosendahl; H Sticht; U Hehr; A Reis; A Rauch
Journal:  Mol Syndromol       Date:  2010-09-14

6.  The advantages of dense marker sets for linkage analysis with very large families.

Authors:  Russell Thomson; Stephen Quinn; James McKay; Jeremy Silver; Melanie Bahlo; Liesel FitzGerald; Simon Foote; Jo Dickinson; Jim Stankovich
Journal:  Hum Genet       Date:  2007-01-25       Impact factor: 4.132

Review 7.  Haplotyping methods for pedigrees.

Authors:  Guimin Gao; David B Allison; Ina Hoeschele
Journal:  Hum Hered       Date:  2009-01-27       Impact factor: 0.444

8.  RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Authors:  Sherin Shaaban; Leigh Ramos-Platt; Floyd H Gilles; Wai-Man Chan; Caroline Andrews; Umberto De Girolami; Joseph Demer; Elizabeth C Engle
Journal:  JAMA Ophthalmol       Date:  2013-12       Impact factor: 7.389

9.  A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Authors:  Ganeshwaran H Mochida; Muhammad Mahajnah; Anthony D Hill; Lina Basel-Vanagaite; Danielle Gleason; R Sean Hill; Adria Bodell; Moira Crosier; Rachel Straussberg; Christopher A Walsh
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

10.  Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Authors:  Munis Dündar; Thomas Müller; Qi Zhang; Jing Pan; Beat Steinmann; Julia Vodopiutz; Robert Gruber; Tohru Sonoda; Birgit Krabichler; Gerd Utermann; Jacques U Baenziger; Lijuan Zhang; Andreas R Janecke
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025
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