نتایج جستجو برای: anophthalmia
تعداد نتایج: 586 فیلتر نتایج به سال:
Purpose The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3) gene have previously been reported in patients with microphthalmia, iridial and retinal colobomas, Klippel-Feil anomaly with vertebral fusion, scoliosis, rudimentary 12th ribs and an anomalous right temporal bone. We used whole exome sequ...
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations...
Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations - anophthalmia and/or severe microphthalmia - seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2, OTX2, PAX6 (paired domain), STRA6, BMP4, SMOC1, FOXE3, and RAX, and genome-wide array-based copy ...
ICROPHTHALMIA has been reported in a number of rat colonies M (JONES 1925; KING 1931; HAIN 1936; BROWMAN 1941, 1943; QUISSENBERRY and BROWN 1942 ; CAMPBELL 1944). Published reports indicate that not only the embryological development but also the final eye condition may be quite varied in the several colonies (see BROWMAN and RAMSEY 1943 and CAMPBELL 1944). The mode of inheritance of this chara...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید