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2,174 Possible Causes for dominantly

  • Malignant Neoplasm

    Neurofibromatosis Neurofibromatosis type 1 (NF1) occurs in 1 in 3,000 individuals, is dominantly inherited, and predisposes carriers to both benign and malignant tumors.[] […] exacerbated by an increased susceptibility to DNA-damaging agents and ionizing radiation received as treatment of a first cancer. 52 Syndromes of Inherited Colon Cancer Two major dominantly[]

  • Spinocerebellar Ataxia Type 6

    The genes responsible for 40 (33.3%) of dominantly inherited SCA families remain to be determined.[] These results lend support to the preclinical development of SIS-RNAi as a potential therapy for SCA6 and other dominantly inherited diseases.[] Spinocerebellar ataxia-6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings[]

  • Neuroferritinopathy

    Neuroferritinopathy is an autosomal dominantly inherited disorder caused by mutations in the gene encoding the ferritin light chain polypeptide.[] Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene.[] Abstract Neuroferritinopathy is a dominantly inherited movement disorder characterized by deposition of iron and ferritin in the brain, normal or low serum ferritin levels[]

  • Olivopontocerebellar Atrophy

    Abstract Amino acids were measured in autopsied brain from two patients who died with a dominantly inherited form of olivopontocerebellar atrophy.[] Abstract In order to characterize more completely the nature of the frontal lobe-type cognitive changes in patients with dominantly inherited olivopontocerebellar atrophy[] Abstract We measured the levels of the monoamine neurotransmitters and metabolites in striatum of 14 patients with end-stage dominantly inherited olivopontocerebellar atrophy[]

  • Spinocerebellar Ataxia Type 1

    Abstract Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited progressive neurological disorder characterized by neuronal degeneration and reactive gliosis in the[] Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a CAG repeat that encodes a polyglutamine tract in ATAXIN1[] Abstract Spinocerebellar ataxia type 1 (SCA1) is an adult-onset, dominantly inherited neurodegenerative disease caused by expansion of a glutamine repeat tract in ataxin-1[]

  • Machado-Joseph Disease

    We describe a family with dominantly inherited ataxia of late adult onset with relatively "pure" cerebellar signs.[] Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world.[] […] tomography studies on the regional cerebral glucose metabolism (rCMRglc) and 18F-fluorodopa (18F-Dopa) uptake were performed in 3 patients with Machado-Joseph disease (MJD), a dominantly[]

  • Hereditary Sensory Neuropathy

    Abstract We report a kindred with autosomal dominantly inherited sensory neuropathy associated with sensorineural hearing loss and early-onset dementia.[] Abstract Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent[] Abstract Hereditary sensory and autonomic neuropathy type 1 (HSAN 1) is a dominantly inherited disorder; its gene locus is mapped on chromosome 9q22.[]

  • Hereditary Gelsolin Amyloidosis

    AGel amyloidosis caused by a gelsolin G654A gene mutation is autosomally dominantly inherited and presents typically in the 30s with progressive corneal lattice dystrophy,[] Abstract Hereditary gelsolin amyloidosis (AGel amyloidosis) is a rare, dominantly inherited systemic disease with worldwide distribution, caused by c.654G A or c.654G T gelsolin[] Abstract Hereditary gelsolin amyloidosis is an autosomally dominantly inherited systemic disease, first described in 1969 by the Finnish ophthalmologist Jouko Meretoja.[]

  • Premature Centromere Division

    OBJECTIVES: To present the prenatal diagnosis of premature centromere division (PCD)-related mosaic variegated aneuploidy (MVA) and a review of the literature. CASE AND METHODS: A 33-year-old primigravida woman underwent amniocentesis at 22 weeks' gestation because of intrauterine growth restriction (IUGR),[…][]

  • Bethlem Myopathy

    A genetic spectrum is emerging, with BM being caused mostly by dominantly acting mutations, although rarely recessive inheritance of BM is also possible, whereas both dominantly[] BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures.[] It is a dominantly inherited disorder associated with mutations in the three COL6 genes encoding type VI collagen.[]

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