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X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers
(ASSOC ARQUIVOS NEURO- PSIQUIATRIASAO PAULO SP, 2012)
X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs ...
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
(Neurogenetics : 4 (4) p. 191-197, 2003-07-05)
Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene
coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion
and compaction of peripheral myelin. ...
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
(Neurogenetics : 4 (4) p. 191-197, 2003-07-05)
Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene
coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion
and compaction of peripheral myelin. ...
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.
(Bioscientifica, 2015-06)
Context and objective: GH insensitivity with immune dysfunction caused by STAT5B mutations is an autosomal recessivecondition. Heterozygous mutations in other genes involved in growth regulation were previously associated ...
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.
(Karger, 2021)
Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound ...
ATP13A2 variants in early-onset Parkinson's disease patients and controls
(John Wiley and Sons Inc., 2009)
Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a ...
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
(Endocrine Society, 2010-09)
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown. Objective: The study evaluates the ...
Sperm chromosome segregation of rob(4;16) and rob(4;16)inv(4) in the brown brocket deer (Mazama gouazoubira)
(2021-07-01)
The genus Mazama stands out among the Neotropical deer due to their wide intra and interspecific karyotypic diversification, which is associated with an accentuated chromosomal fragility. There are reports of heterozygous ...
Symptomatic female carriers of Duchenne Muscular Dystrophy (DMD): genetic and clinical characterization
(Elsevier, 2014-01-15)
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers ...