Results 81 to 90 of about 748 (132)

Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosed

, 2011
2nd advanced courseThe FMR1 gene [Xq27.3; MIM*309550] has an unstable region comprised of CGG triplets located the 5´untranslated region. Based on the number of those repeats alleles are classified as normal, intermediate, premutation or full mutation ...
Marques, Isabel, Jorge, Paula, Santos, Rosário   +2 more
core  

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

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  

Health problems in females carriers of premutation in the FMR1 gene

, 2017
Nosicielstwo premutacji w genie FMR1 dotyczy 1 na 130-260 kobiet oraz 1 na 250-810 mężczyzn. Obecnie wiadomo, że nosiciele premutacji są w grupie ryzyka rozwinięcia spektrum zaburzeń neurologicznych, psychiatrycznych oraz immunologicznych w wieku ...
Małgorzata Lisik
core   +1 more source

Fragile X syndrome: intergenerational allele instability and associated phenotypes in families [PDF]

, 2012
Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females.
Marques, Isabel, Joana, Loureiro, Sequeiros, Jorge, Vale, José, Martins, Márcia, Silveira, Isabel, Seixas, Ana, Santos, Rosário   +7 more
core  

Associated features in females with an FMR1 premutation

, 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI ...
Greenberg, Jan, Molly Losh, John M Olichney, Wheeler, Anne C, Mailick, Marsha, Bailey Jr, Donald B, Smith, Leann, Summers, Scott, Sherman, Stephanie, Olichney, John M, Losh, Molly, Randi Hagerman, Bailey, Donald B, Jr, Laia Rodriguez-Revenga, Montserrat Milà, Scott Summers, Hagerman, Randi, Stephanie Sherman, Donald B Bailey Jr, Elizabeth Berry-Kravis, Leann Smith, Jin-Chen Yang, Anne C Wheeler, Marsha Mailick, Berry-Kravis, Elizabeth, Rodriguez-Revenga, Laia, Wheeler, Anne, Yang, Jin-Chen, Milà, Montserrat, Jan Greenberg   +29 more
core   +1 more source

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

, 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  

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

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS. [PDF]

Cerebellum
Berglund S, Hashim F, Laffita-Mesa J, Malmgren H, Anderlid BM, Granberg T, Sjöström H, Svenningsson P, Paucar M.   +8 more
europepmc   +1 more source

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women. [PDF]

Hum Reprod
Morbey EJ, Day FR, Wright DJ, Murzynowski JRA, McGlacken-Byrne SM, Murray A, Ong KK, Perry JRB.   +7 more
europepmc   +1 more source