Literature DB >> 17249547

Genetic factors modifying clinical expression of autosomal dominant RP.

Stephen P Daiger1, Suma P Shankar, Alice B Schindler, Lori S Sullivan, Sara J Bowne, Terri M King, E Warick Daw, Edwin M Stone, John R Heckenlively.   

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Year:  2006        PMID： 17249547      PMCID： PMC2581449          DOI： 10.1007/0-387-32442-9_1

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  24 in total

1.  Monte Carlo Markov chain methods for genome screening.

Authors:  E W Daw; J Kumm; G L Snow; E A Thompson; E M Wijsman
Journal:  Genet Epidemiol       Date:  1999       Impact factor: 2.135

2.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

3.  Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Authors:  L S Sullivan; J R Heckenlively; S J Bowne; J Zuo; W A Hide; A Gal; M Denton; C F Inglehearn; S H Blanton; S P Daiger
Journal:  Nat Genet       Date:  1999-07       Impact factor: 38.330

4.  Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees.

Authors:  E W Daw; S C Heath; E M Wijsman
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

5.  Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Authors:  M M Sohocki; S P Daiger; S J Bowne; J A Rodriquez; H Northrup; J R Heckenlively; D G Birch; H Mintz-Hittner; R S Ruiz; R A Lewis; D A Saperstein; L S Sullivan
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

6.  Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).

Authors:  E L Berson; J L Grimsby; S M Adams; T L McGee; E Sweklo; E A Pierce; M A Sandberg; T P Dryja
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-09       Impact factor: 4.799

7.  A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.

Authors:  X Guillonneau; N I Piriev; M Danciger; C A Kozak; A V Cideciyan; S G Jacobson; D B Farber
Journal:  Hum Mol Genet       Date:  1999-08       Impact factor: 6.150

8.  Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Authors:  S G Jacobson; A V Cideciyan; A Iannaccone; R G Weleber; G A Fishman; A M Maguire; L M Affatigato; J Bennett; E A Pierce; M Danciger; D B Farber; E M Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-06       Impact factor: 4.799

9.  Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Authors:  S J Bowne; S P Daiger; M M Hims; M M Sohocki; K A Malone; A B McKie; J R Heckenlively; D G Birch; C F Inglehearn; S S Bhattacharya; A Bird; L S Sullivan
Journal:  Hum Mol Genet       Date:  1999-10       Impact factor: 6.150

10.  Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.

Authors:  Qin Liu; Jie Zhou; Stephen P Daiger; Debora B Farber; John R Heckenlively; Julie E Smith; Lori S Sullivan; Jian Zuo; Ann H Milam; Eric A Pierce
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-01       Impact factor: 4.799
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  4 in total

1.  Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.

Authors:  Catherine J Spellicy; Dong Xu; Garrett Cobb; Lizbeth Hedstrom; Sara J Bowne; Lori S Sullivan; Stephen P Daiger
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

2.  Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Authors:  Akiko Maeda; Akiko Yoshida; Kanako Kawai; Yuki Arai; Ryutaro Akiba; Akira Inaba; Seiji Takagi; Ryoji Fujiki; Yasuhiko Hirami; Yasuo Kurimoto; Osamu Ohara; Masayo Takahashi
Journal:  Jpn J Ophthalmol       Date:  2018-05-21       Impact factor: 2.447

3.  Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

Authors:  Rob W J Collin; Karin W Littink; B Jeroen Klevering; L Ingeborgh van den Born; Robert K Koenekoop; Marijke N Zonneveld; Ellen A W Blokland; Tim M Strom; Carel B Hoyng; Anneke I den Hollander; Frans P M Cremers
Journal:  Am J Hum Genet       Date:  2008-10-30       Impact factor: 11.025

4.  Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.

Authors:  Ting-Yi Lin; Yun-Chia Chang; Yu-Jer Hsiao; Yueh Chien; Ying-Chun Jheng; Jing-Rong Wu; Lo-Jei Ching; De-Kuang Hwang; Chih-Chien Hsu; Tai-Chi Lin; Yu-Bai Chou; Yi-Ming Huang; Shih-Jen Chen; Yi-Ping Yang; Ping-Hsing Tsai
Journal:  Int J Mol Sci       Date:  2021-05-25       Impact factor: 5.923
  4 in total

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