Results 71 to 80 of about 815 (125)

Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation And Intermediate Allele Carriers [PDF]

, 2018
Fragile X syndrome (FXS) is caused by a triplet repeat expansion on the FMR1 gene. Individuals with \u3e200 repeats have FXS, while individuals between 45-54 and 55- 200 repeats have the FMR1 intermediate allele and premutation, respectively.
Saadat Girnary, Zahra
core   +1 more source

Fragile X Disorders among Nigerian Children with neurodevelopmental delays and women with suspected Fragile X-associated Primary Ovarian Insufficiency

This dataset contains information of a pilot targeted screening for Fragile X disorders among Nigerian children with neurodevelopmental disorders and women with Fragile X-associated Primary Ovarian Insufficiency (FXPOI).
mbachu, chioma
core   +1 more source

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
core   +1 more source

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
doaj  

Editorial: Proceedings of the “Fourth International Conference of the FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy”

Frontiers in Molecular Biosciences, 2021
Karen Usdin, Laia Rodriguez-Revenga, Rob Willemsen, Renate Hukema, Cecilia Giulivi, Cecilia Giulivi   +5 more
doaj   +1 more source

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
core   +1 more source

Fragile X primary ovarian insufficiency. [PDF]

Colomb Med (Cali)
Boutrid N, Rahmoune H.
europepmc   +2 more sources

Immune-Mediated Disorders Among Women Carriers of Fragile X Premutation Alleles [PDF]

The relative risk of immune-mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women (age 19–81 years; mean 46.35 and SD12.60) and 72 controls (age 18–87 years; mean 52.40 and SD 15 ...
Winarni, Tri Indah
core   +1 more source

Enrichment of an Ehlers-Danlos-like phenotype in women with the <i>FMR1</i> premutation: a pilot study. [PDF]

J Med Genet
Casanova EL, Buchanan CB, Hinzman C, Johnson L, Okenimkpe T, Kellum A, Sheedy T, Gane L, Makhoul E, Hagerman R, Hagerman P.   +10 more
europepmc   +1 more source

Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool. [PDF]

J Assist Reprod Genet
Peery E, Singleton AL, Merkison J, Brockman D, Hipp H, Ali N, Lichten L, Allen EG.   +7 more
europepmc   +1 more source