Results 221 to 230 of about 124,431 (304)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source

Functional network analysis in hepatolithiasis: identifying novel therapeutic targets through whole-exome sequencing. [PDF]

PeerJ
Tang D, Gu X, Liu D, Yang J, Zhao L.
europepmc   +1 more source

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. [PDF]

World J Hepatol
Yodoshi T.
europepmc   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Kong F, Yin Z, Zhou H, Liu Z, Xie W.
europepmc   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Movement Disorders, EarlyView.
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi, Giulia Bonato, Matilde Corazza, Irene Guerra, Francesca Pistonesi, Cinzia Bertolin, Leonardo Salviati, Angelo Antonini, Renzo Manara, Miryam Carecchio   +9 more
wiley   +1 more source

Whole exome sequencing identifies somatically mutated genes in bladder cancer: A pilot study from Bangladesh. [PDF]

Biochem Biophys Rep
Ahmed HU, Hosen MR, Mostofa MA, Hossain MA, Faruk MO, Shekhar HU, Hasan AM, Hosen MI.   +7 more
europepmc   +1 more source