Results 71 to 80 of about 3,423 (189)

Avaliação de pré-mutação por PCR na síndrome do X frágil [PDF]

, 2006
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química.A presente dissertação avalia o desempenho de uma nova metodologia de análise molecular pela reação em cadeia da ...
Queiroz, Mariana Arzua de
core  

Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report [PDF]

, 2022
People carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS).
Ocak, Özgül, Sılan, Fatma
core   +1 more source

Fragile X Premutation Associated Conditions (FXPAC)

Frontiers in Pediatrics, 2020
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson, Jonathan Herring, Jörg Richstein   +2 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core  

Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation

JACC: Case Reports, 2020
This paper reports 2 cases of female carriers of the FMR1 premutation for developing spontaneous coronary artery dissection (SCAD). These women had classical presentations of premutation symptoms, including anxiety, depression, and connective tissue ...
Forrest J. McKenzie, BS, Nattaporn Tassanakijpanich, MD, Kelly C. Epps, MD, S. Kimara March, MD, Randi J. Hagerman, MD   +4 more
doaj   +1 more source

Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation

Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
ABSTRACT Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder characterised by cessation of menstruation before the age of 40 years with elevated levels of follicle‐stimulating hormone. Germline variants in the MSH5 gene cause POI. In this study, we investigated a Han Chinese family with POI.
Bin Mao, Lili Zhang, Xiaodong Zhao, Xiaojuan Xu, Hongfang Liu, Dexiao Song, Peiqiang Li, Santasree Banerjee, Xiaoling Ma, Yongxiu Yang   +9 more
wiley   +1 more source

Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism

Genetics and Molecular Research, 2008
A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit.
A H O, Reis, A C S, Ferreira, K B, Gomes, M J B, Aguiar, C G, Fonseca, F E, Cardoso, V C, Pardini, M R S, Carvalho   +7 more
openaire   +2 more sources

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

, 2011
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene.
Noctor, SC, Cerdeno, VM, Porras, EN, Prakash, AN, Berman, RF, Angelastro, JM, Cunningham, CL, Willemsen, Rob, Hagerman, PJ, Pessah, IN   +9 more
core   +1 more source