نتایج جستجو برای: x linked recessive
تعداد نتایج: 848601 فیلتر نتایج به سال:
Epistatic interactions are widespread, and many of these interactions involve combinations of alleles at different loci that are deleterious when present in the same individual. The average genetic environment of sex-linked genes differs from that of autosomal genes, suggesting that the population genetics of interacting X-linked and autosomal alleles may be complex. Using both analytical theor...
PURPOSE Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous retinal disorder. Despite tremendous knowledge about the genes involved in RP, little is known about the genetic causes of RP in Indonesia. Here, we aim to identify the molecular genetic causes underlying RP in a small cohort of Indonesian patients, using genome-wide homozygosity mapping. METHODS DNA samples from ...
X-linked hydrocephaly is a rare sex-linked genetic recessive condition occurring in 1/30,000 deliveries. Adduction of thumbs and mental retardation are additional associated clinical findings. We describe two cases of X-linked hydrocephaly with associated adducted thumbs that were diagnosed prenatally with the combined use of three-dimensional (3D) ultrasound and fetal blood sampling for cytoge...
BACKGROUND The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. METHODS A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomograph...
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