نتایج جستجو برای: x linked recessive
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Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...
Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosom...
leukodystrophies are familial disorders with onset usually in infancy or childhood. the name comes from the greek leuko meaning white and dystrophy meaning imperfect growth or development. leukodystrophy is a progressive, genetic disorder with an autosomal recessive or x-linked mode of inheritance. the clinical features consist of motor dysfunction with varying degrees of cognitive decline. mag...
hemophilia b is factor ix deficiency and is inherited as x-linked recessive disorder. the subject of carrier detection in hemophilias has received new impetus in the last several years. analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and hemophilia b carrier detection, if the identification of the gene mutation is possible. allele frequencies of t...
HE total genetic risk with respect to recessive lethal mutations in mammals can only be assessed if the mutability of sex chromosomes as well as autosomes is known. Therefore, a three-generation test was done in order to determine the incidence of recessive sex-linked lethal and detrimental mutations in mice. The frequency of autosomal recessives will be determined in subsequent experiments. Th...
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
Dent’s disease 1 (OMIM 300009) is an X-linked proximal tubulopathy [1] first described in 1964 [2], with Fanconi syndrome, a consistent renal abnormality, and low-molecular-weight proteinuria (LMWP) being almost always present. Nephrocalcinosis and renal stone formation occur more frequently in Dent’s disease 1 than in other forms of Fanconi syndrome. Various features of Dent’s disease 1 predom...
Twenty-two of 23 obligate female carriers in nine families with known X-chromosome-linked retinitis pigmentosa were detected on the basis of abnormal full-field electroretinograms (ERGs). Only 14 of these carriers had fundus findings characteristic of the carrier state. Electroretinograms of carriers were either reduced in amplitude to white light under dark-adapted conditions or delayed in con...
X-linked genes can evolve slower or faster depending on whether most recessive, or at least partially recessive alleles are deleterious or beneficial due to their hemizygous expression in males. Molecular studies of X chromosome divergence have provided conflicting evidence for both a higher and lower rate of nucleotide substitution at both synonymous and nonsynonymous sites, depending on the n...
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