Results 81 to 90 of about 5,127 (199)

Effect of AGG Interruptions on FMR1 Maternal Transmissions

Frontiers in Molecular Biosciences, 2020
There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200 repeats; those between 55 and 200 CGGs are considered FMR1 premutation alleles, because they are ...
Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada   +15 more
doaj   +1 more source

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford, Caroline Jennings, Anne Slavotinek   +2 more
wiley   +1 more source

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation [PDF]

, 2016
Objective: Clinical observations and a limited number of research studies provide evidence that the fragile X premutation may confer risk for autism, executive dysfunction, and psychopathology.
Schneider, A, R. J. Hagerman (2861726), Rivera, SM, F. Tassone (2861720), Johnston, C, Hagerman, RJ, S. Sansone (5740), Hessl, D, C. Johnston (2861729), S. M. Rivera (2861717), D. Hessl (2861714), A. Schneider (2315101), Tassone, F, Ferrer, E, E. Ferrer (2861723), Sansone, S   +15 more
core   +1 more source

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers

Journal of Ovarian Research
Background Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, Aina Borras, Tamara Barcos, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins

Frontiers in Genetics, 2018
Mitochondrial dysfunction (MD) has been identified in lymphocytes, fibroblasts and brain samples from adults carrying a 55–200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene (premutation; PM); however, limited data are available on the ...
Eleonora Napoli, Andrea Schneider, Andrea Schneider, Randi Hagerman, Randi Hagerman, Gyu Song, Sarah Wong, Flora Tassone, Flora Tassone, Cecilia Giulivi, Cecilia Giulivi   +10 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Additional file 1 of FMRpolyG accumulates in FMR1 premutation granulosa cells

, 2020
Additional file 1S. Mural granulosa cells of FMR1 premutation carriers exhibited FMRpolyG accumulation without ubiquitin inclusions. Two additional FMR1 premutation carriers demontrated FMRpolyG positive staining withoout co-localization with ubiquitin ...
H. Raanani (8498406), O. Dratviman-Storobinsky (8498400), R. Orvieto (8498409), M. Friedman-Gohas (8498394), S. Elizur (8498397), Y. Cohen (2254525), J. Haas (7015940), A. Aizer (8498403)   +7 more
core   +1 more source

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

Frontiers in Genetics, 2014
Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline and parkinsonism in individuals who carry between 55-200 CGG repeats in the promoter region of the fragile X mental retardation 1 ...
Avram eFraint, Padmaja eVittal, Aimee eSzewka, Bryan eBernard, Elizabeth eBerry-Kravis, Deborah eHall   +5 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

Clinical and laboratory characteristics of the study (carriers of FMR1 premutation) and control groups.

, 2014
Clinical and laboratory characteristics of the study (carriers of FMR1 premutation) and control groups.
Oshrit Lebovitz (621449), Raoul Orvieto (621454), Yoram Cohen (267115), Shai E. Elizur (621448), Olga Dratviman-Storobinsky (621451), Sanaz Derech-Haim (621450), Jehoshua Dor (621453), Baruch Feldman (621452)   +7 more
core   +1 more source