نتایج جستجو برای: linked dominant
تعداد نتایج: 361300 فیلتر نتایج به سال:
A family is described in which incontinentia pigmenti (IP) is variably expressed in both sexes, compatible with either autosomal dominant or X linked dominant inheritance. This is the first reported instance of an affected male with a positive family history. Immunological studies of the proband showed no significant alteration of immune function. Cytogenetic investigations of the proband and h...
BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss and ocular anomalies. While the X-linked and the autosomal recessive forms are well known, the autosomal dominant form is not well acknowledged. METHODS We have clinically investigated 38 patients with a diagnosis of auto...
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by slowly progressive skeletal muscle weakness in a humero-peroneal distribution, early contractures and prominent cardiomyopathy with conduction block. Mutations in EMD, encoding emerin, and LMNA, encoding A-type lamins, respectively, cause X-linked and autosomal dominant EDMD. Emerin and A-type lamins are proteins...
According to decades of research on affective motivation in the human brain, approach motivational states are subserved by the left hemisphere and avoidance states by the right hemisphere. Here we show that hemispheric specialization for motivation reverses with handedness. This covariation provides initial support for the Sword and Shield Hypothesis, according to which hemispheric laterality o...
primary immunodeficiencies (pid) are a group of disorders, characterized by an unusual susceptibility to infections. delay in diagnosis results in increased morbidity and mortality in affected patients. the purpose of this study was to determine the mortality rate of iranian immunodeficient patients referred to children medical center hospital affiliated to tehran university of medical sciences...
GENETIC BEHAVIOR H. V. CROUSE AND HELEN SMITH-STOCKING Department of Embryology, Carnegie Institution of Washington, Baltimore, Maryland Received January 31, 1938 H E present paper deals with six new mutant characters in Sciara T found in this laboratory. In addition, two mutants are recorded which appear to be identical with or allelic to two of these characters. Of the six, one is an autosoma...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید