[HTML] from nih.govBA Tucker, TE Scheetz, RF Mullins… - Proceedings of the …, 2011 - National Acad Sciences Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to identify a homozygous Alu insertion in exon 9 of male germ cell-associated kinase (MAK) as the cause of ...
G Tanackovic, A Ransijn, C Ayuso, S Harper… - The American Journal of …, 2011 - Elsevier Retinitis pigmentosa (RP) is an inherited form of retinal degeneration that leads to progressive visual-field constriction and blindness. Although the disease manifests only in the retina, mutations in ubiquitously expressed genes associated with the tri-snRNP complex of the ... Cited by 1 - Related articles - All 2 versions
JG Eng, RN Agrawal, KR Tozer… - … Ophthalmology & Visual …, 2011 - ARVO Methods. A 74-year-old man with end-stage X-linked RP underwent implantation of an epiretinal array over the macula in the right eye and subsequent stimulation until his death at 5 years and 3 months after implantation. The optic nerves from this study patient, as well as those from ... Cited by 1 - Related articles - All 3 versions
EL Berson, B Rosner, MA Sandberg… - Archives of …, 2011 - Am Med Assoc We, the members of the Data Safety Monitor- ing Committee (DSMC) for Berson and col- league's clinical trial of lutein in patients with retinitis pigmentosa who are receiving vitamin A,1 share many of the concerns Massof and Fishman2 expressed in their editorial. We served as ... All 2 versions
G Stratigopoulos, CA LeDuc, ML Cremona… - Journal of Biological …, 2011 - ASBMB The first intron of FTO contains common single nucleotide polymorphisms associated with body weight and adiposity in humans. In an effort to identify the molecular basis for this association, we discovered that FTO and RPGRIP1L (a ciliary gene located in close ... Cited by 4 - Related articles - All 5 versions
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