Epidemiology of fragile X syndrome: A systematic review and meta‐analysis

J Hunter, O Rivero‐Arias, A Angelov… - American journal of …, 2014 - Wiley Online Library
Prevalence estimates for fragile X syndrome vary considerably. This systematic review and
meta‐analysis was conducted to provide an accurate prevalence estimate for this disorder …

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations

E Peprah - Annals of human genetics, 2012 - Wiley Online Library
Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability,
which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by …

Genetic cluster of fragile X syndrome in a Colombian district

W Saldarriaga, JV Forero-Forero… - Journal of human …, 2018 - nature.com
Abstract Background: Fragile X syndrome (FXS) is the most common cause of inherited
intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene …

Creatine and guanidinoacetate reference values in a French population

MJC Curt, D Cheillan, G Briand, GS Salomons… - Molecular genetics and …, 2013 - Elsevier
Creatine and guanidinoacetate are biomarkers of creatine metabolism. Their assays in body
fluids may be used for detecting patients with primary creatine deficiency disorders (PCDD) …

Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan

T Fatima, SAH Zaidi, N Sarfraz… - American Journal of …, 2014 - Wiley Online Library
Fragile X syndrome is considered the most common heritable form of X‐linked intellectual
disability (ID). The syndrome is caused by silencing of the fragile X mental retardation 1 …

[HTML][HTML] Fragile X Syndrome in children

DO Acero-Garcés, W Saldarriaga… - Colombia …, 2023 - scielo.org.co
Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which
generates epigenetic changes that silence its expression. The absence of the protein coded …

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile

L Santa Maria, S Aliaga, V Faundes, P Morales… - Genetics …, 2016 - cambridge.org
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID)
and co-morbid autism. It is caused by an amplification of the CGG repeat (> 200), which is …

Inequities in diagnosis of Fragile X syndrome in Colombia

W Saldarriaga‐Gil, AM Cabal‐Herrera… - Journal of Applied …, 2021 - Wiley Online Library
Abstract Background Fragile X syndrome (FXS) is the most common cause of inherited
intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no …

Incidence of Fragile X syndrome in Ireland

JJ O'Byrne, M Sweeney, DE Donnelly… - American Journal of …, 2017 - Wiley Online Library
Described as the commonest single gene cause of learning disability internationally, the
incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland …

Genetyczne przyczyny upośledzenia umysłowego, z którymi neurolog może spotkać się w codziennej praktyce

K Jastrzębski, MJ Kacperska, T Pietras… - Aktualności …, 2013 - infona.pl
Upośledzenie umysłowe określane jest jako istotnie niższy od przeciętnego poziom
funkcjonowania intelektualnego, występujący łącznie z upośledzeniem w zakresie …