autosomal

نتایج جستجو برای: autosomal

تعداد نتایج: 32291 فیلتر نتایج به سال:

Carpal tunnel syndrome: familial autosomal inheritance

Journal: :Genetics in Medicine 1999

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Genetic inheritance of susceptibility to tinea imbricata.

Journal: :Journal of medical genetics 1980

D Ravine K J Turner M P Alpers

Segregation analysis on 228 family pedigrees collected from a Papua New Guinean population provided data that strongly supported a previous report of an autosomal recessive pattern of inheritance of a susceptibility to tinea imbricata. The frequency of the susceptibility gene within the population studied was found to be 0.49 +/- 0.04, calculated on the assumption of an autosomal recessive mode...

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Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.

Journal: :Journal of medical genetics 1995

L B Holmes R W Redline D L Brown A J Williams T Collins

Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parents are first cousins once removed. These infants appear to have a "new" autosomal recessive syndrome.

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Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Journal: :Investigative ophthalmology & visual science 2007

David Cohen Udy Bar-Yosef Jaime Levy Libe Gradstein Nadav Belfair Rivka Ofir Sarah Joshua Tova Lifshitz Rivka Carmi Ohad S Birk

PURPOSE Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been as...

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Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

Journal: :Neuromuscular Disorders 2021

Camptocormia is defined by a pathological involuntary flexion of the thoracic and lumbar spine that fully reducible in supine position. Although originally described as manifestation conversion disorder, it more commonly caused wide range neurological diseases, particular movement neuromuscular disorders. We describe here rare case late onset camptocormia autosomal dominant calpainopathy due to...

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hereditary parkinsonism syndrome

Journal: :genetics in the 3rd millennium 0

امیر رضا عظیمی amir reza azimi assist prof of tehran university of medical sciences, tehran, iranاستادیار دانشگاه علوم پزشکی تهران

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Journal: :Epilepsia 2000

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Autosomal recessive diseases among Palestinian Arabs.

Journal: :Journal of Medical Genetics 1997

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Autosomal Recessive Inheritance of Intestinal Atresia

Journal: :Journal of the Royal Society of Medicine 1983

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The Cytogenetics of Mammalian Autosomal Rearrangements

Journal: :Journal of Medical Genetics 1989

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