Results 71 to 80 of about 748 (132)

Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders.

, 2014
Carriers of fragile X syndrome can present with a broad spectrum of clinical disordersFragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct ...
Nielsen, Jørgen E, Brøndum-Nielsen, Karen, Grønskov, Karen, Carlsen Lunding, Jytte Merete, Jønch, Aia Elise   +4 more
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Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study

, 2016
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated
Sonia Merino, Begoña Prieto, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada, Hiart Maortua, Nekane Ibarluzea, Idoia Rouco   +6 more
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Fentanyl overdose in a female with the FMR1 premutation and FXTAS. [PDF]

, 2018
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects individuals with 55-200 CGG repeats (premutation) in the 5'-untranslated region of the fragile X mental retardation 1 (FMR1) gene.
Schneider, Andrea, Hagerman, Randi, Salcedo-Arellano, Maria J, El-Deeb, Marwa, Tassone, Flora, Adams, Patrick   +5 more
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Patologías asociadas a la premutación del gen FMR1 [PDF]

, 2016
Históricamente, los individuos portadores de alelos premutados se consideraban asintomáticos dado que no manifestaban discapacidad intelectual. Sin embargo, desde el año 2000 se han descrito dos patologías de aparición tardía asociadas específicamente a ...
Álvarez Mora, María Isabel
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CGG Repeat RNAs Regulate Granule Translation

, 2017
Fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI) are associated with CGG repeat expansions in the 5’UTR of the FMR1 gene.
Rovozzo, Rene
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Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency. [PDF]

, 2016
Study hypothesisWe hypothesized that the mitochondria of granulosa cells (GC) and/or oocytes might be abnormal in a mouse model of fragile X premutation (FXPM).Study findingMice heterozygous and homozygous for the FXPM have increased death (atresia) of ...
Giulivi, Cecilia, Bellone, Stefania, Gul, Mehmet, Hoffman, Gloria, Dioguardi, Carola Conca, De Santis, Lucia, Uslu, Bahar, Usdin, Karen, Santin, Alessandro, Johnson, Joshua, Haynes, Monique, Conca Dioguardi, Carola, Miao, De-Qiang, Kurus, Meltem, Ferrari, Maurizio   +14 more
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Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab

, 2016
The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders.
Jolanta Czekajska, Ewa Obersztyn, Agnieszka Szpecht-Potocka, Danuta Sielska-Rotblum, Sylwia Rzońca, Daniel Szopa, Jerzy Bal, Monika Gos, Michał Milewski, Aleksandra Landowska, Dorota Maciejko, Tadeusz Mazurczak, Anna Abramowicz   +12 more
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Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report [PDF]

Journal of Basic Research in Medical Sciences
Fragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead.
Ahoura Nozari, mahdieh Hassani, Javad Karimzad Hagh, Alireza Sadeghi, Narges Jalilian   +4 more
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Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers

, 2011
Contains fulltext : 98034.pdf (Publisher’s version ) (Open Access)BACKGROUND: Carriers of a premutation (CGG repeat length 55-200) in the fragile X mental retardation (FMR1) gene are at risk for primary ovarian insufficiency (FXPOI ...
Braat, D.D.M., T. B. Feuth, H. G. Yntema, S. L. Sherman, Smits, A.P.T., Allen, E.G., C. M. G. Thomas, E. G. Allen, Geurts van Kessel, A.H.M., D. D. M. Braat, M. A. Spath, Spath, M.A., Feuth, T., Thomas, C.M.G., A. P. T. Smits, A. G. van Kessel, Yntema, H.G., Sherman, S.L.   +17 more
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The impact of fragile x newborn screening results on reproductive choices and surveillance for FMR1-associated disorders [PDF]

, 2014
The aim of the study was to explore the impact of the identification of a fragile X\ud (FX) premutation (PM) through newborn screening (NBS) on family members???\ud reproductive plans and surveillance for FMR1-associated disorders.
Miranda, Patricia Lauren
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