Literature DB >> 10851258

Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa.

I Marcos, A Ruiz, C J Blaschak, S Borrego, G R Cutting, G Antinolo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10851258      PMCID： PMC1734609          DOI： 10.1136/jmg.37.6.e5

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


× No keyword cloud information.
  5 in total

1.  A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Authors:  Salud Borrego; Fred A Wright; Raquel M Fernández; Nita Williams; Manuel López-Alonso; Ramana Davuluri; Guillermo Antiñolo; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-12-09       Impact factor: 11.025

2.  A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

Authors:  Cristian Pattaro; Alessandro De Grandi; Veronique Vitart; Caroline Hayward; Andre Franke; Yurii S Aulchenko; Asa Johansson; Sarah H Wild; Scott A Melville; Aaron Isaacs; Ozren Polasek; David Ellinghaus; Ivana Kolcic; Ute Nöthlings; Lina Zgaga; Tatijana Zemunik; Carsten Gnewuch; Stefan Schreiber; Susan Campbell; Nick Hastie; Mladen Boban; Thomas Meitinger; Ben A Oostra; Peter Riegler; Cosetta Minelli; Alan F Wright; Harry Campbell; Cornelia M van Duijn; Ulf Gyllensten; James F Wilson; Michael Krawczak; Igor Rudan; Peter P Pramstaller
Journal:  BMC Med Genet       Date:  2010-03-11       Impact factor: 2.103

3.  Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Authors:  M M Abd El-Aziz; I Barragan; C O'Driscoll; S Borrego; L Abu-Safieh; J I Pieras; M F El-Ashry; E Prigmore; N Carter; G Antinolo; S S Bhattacharya
Journal:  Ann Hum Genet       Date:  2007-05-29       Impact factor: 1.670

4.  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

5.  Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa.

Authors:  Yun Teng; Hong Tian; Hui Wang; Xiaofeng Hu; Wei Wang; Yan Chen; Zhenrong Yang
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2003
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.