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[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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