The fragile x-associated tremor and ataxia syndrome (FXTAS) A síndrome de tremor e ataxia associada ao X frágil (FXTAS) [PDF]
Arquivos de Neuro-Psiquiatria, 2010 FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation.
Leonardo Pires Capelli +5 more
doaj +4 more sources
O espectro das falências ovarianas ligadas ao cromossomo X [PDF]
Arquivos Brasileiros De Endocrinologia E Metabologia, 2001 Clinically ovarian failure is presented by primary or secondary amenorrhea and high levels of pituitary gonadotropins mainly FSH. Monossomy or X-chromosome rearrangements are among a variable number of suggested etiopathogenic factors of ovarian failure ...
Hassum Filho, Péricles A. +2 more
exaly +4 more sources
Diagnosis of the fragile X syndrome in males using methylation-specific PCR of the FMRI locus [PDF]
Genetics and Molecular Biology, 1999 We have developed a non-isotopic technique based on methylation-specific PCR (MSP) of the FMR1 promoter for the identification of fragile X full mutations among men.
Sérgio D.J. Pena, Rosane Sturzeneker
doaj +2 more sources
Características físicas e bucais na síndrome do X frágil – revisão de literatura
Revista da Faculdade de Odontologia de Porto Alegre, 2020 Introdução: A síndrome do cromossomo X frágil é uma síndrome genética que acomete principalmente indivíduos do sexo masculino. O nome desta síndrome ocorre como consequência de um estreitamento da extremidade distal do braço longo do cromossomo X, local ...
Giovana Badan Martins +4 more
doaj +7 more sources
Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations [PDF]
, 2011 A síndrome do X Frágil é a causa mais frequente de deficiência intelectual hereditária. A variante de Dandy-Walker trata-se de uma constelação específica de achados neurorradiológicos. Este estudo relata achados da comunicação oral e escrita de um menino
ABRAMIDES, Dagma Venturini Marquez +5 more
core +2 more sources
Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes [PDF]
, 2002 Objective: to discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and ...
Toralles, Maria Betânia Pereira +1 more
core +3 more sources
Cannabinoids help to unravel etiological aspects in common and bring hope for the treatment of autism and epilepsy [PDF]
, 2014 Desde 1843 que as propriedades anticonvulsivantes da Cannabis são conhecidas pela ciência ocidental. Em 1980, ensaios clínicos demonstraram que canabidiol possui atividade antiepilética em pacientes de epilepsia refratária, sendo sonolência o único ...
Jianguang Wen (3807526) +10 more
core +3 more sources
Premature ovarian failure (POF) in Brazilian fragile X carriers
Genetics and Molecular Biology, 1999 The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives ...
Angela M. Vianna-Morgante +4 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2005 Fragile X syndrome is a frequent genetic disease associated to developmental disorders, including learning disability, mental retardation, behavioral problems and pervasive developmental disorders (autism and related conditions).
Carlos Eduardo Steiner +3 more
doaj +1 more source
Review of the scientific article: Fragile x syndrome and other pathologies associated with the fmr1 gene [PDF]
, 2023 O tema deste trabalho científico é a resenha do artigo científico denominado Síndrome X Frágil y Otras Patologías Asociadas al Gen FMR1, que aborda uma condição genética denominada Síndrome do Cromossomo X Frágil, ainda pouco divulgada no Brasil.
Pinho Filho, Lúcio Carlos de +2 more
core +1 more source