نتایج جستجو برای: rp3

تعداد نتایج: 114  

Journal: :American journal of human genetics 2000
A J Mears S Hiriyanna R Vervoort B Yashar L Gieser S Fahrner S P Daiger J R Heckenlively P A Sieving A F Wright A Swaroop

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with "X-linked dominant cone-rod degeneration." After clinical reevaluation of a female in this pedigree identified her as affected, we rema...

Journal: :Development 2000
B D Wolf A Chiba

Axons in the bilateral brain of Drosophila decide whether or not to cross the midline before following their specific subsequent pathways. In commissureless mutants, the RP3 and V motoneuron axons often fail to cross the midline but subsequently follow the mirror-image pathways and innervate corresponding muscle targets on the ipsilateral side. Conversely, in roundabout mutants, the RP2 and aCC...

Journal: :Human molecular genetics 1996
R Roepman D Bauer T Rosenberg G van Duijnhoven E van de Vosse M Platzer A Rosenthal H H Ropers F P Cremers W Berger

The gene for the most frequent from of X-linked retinitis pigmentosa (XLRP), RP3, has been assigned by genetic and physical mapping to a segment of less than 1000 kbp, which is flanked by the marker DXS1110 and the ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have screened the DNA of 30 unrelated patients with XLRP by employing a representative set of YAC-derived DNA f...

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