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 …

Fragile X carrier screening and FMR1 allele distribution in the Japanese population

S Otsuka, Y Sakamoto, H Siomi, M Itakura… - Brain and …, 2010 - Elsevier
Fragile X syndrome (FXS), which is the most common form of familial mental retardation, is
caused by the expansion of the CGG repeat in the FMR1 gene on the X chromosome …

Experiences of the molecular diagnosis of Fragile X syndrome in Ecuador

J Pozo-Palacios, A Llamos-Paneque, C Rivas… - Frontiers in …, 2021 - frontiersin.org
Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and
the second most common cause of intellectual disability of genetic etiology. This complex …

Genetic Diversity of the Fragile X Syndrome Gene (FMR1) in a Large Sub‐Saharan West African Population

EK Peprah, EG Allen, SM Williams… - Annals of human …, 2010 - Wiley Online Library
Summary Fragile X syndrome (OMIM# 300624) is caused by the expansion of a CGG
trinucleotide repeat found in the 5′ untranslated region of the X‐linked FMR1 gene …

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 …

Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing

N Indhumathi, D Singh, SS Chong… - Genetic Testing and …, 2012 - liebertpub.com
Fragile X syndrome is the most frequent hereditary cause of mental retardation after Down
syndrome. Expansion of CGG repeats in the 5′ UTR of the fragile X mental retardation …

Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara

P Barros‐Núñez, MA Rosales‐Reynoso… - American Journal of …, 2008 - Wiley Online Library
Fragile X syndrome is the most common cause of inherited mental retardation; it is caused
by expansion of CGG repeats in the first exon of the FMR1 gene. The number of CGG …

[HTML][HTML] Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil

JFB Ferreira, JS Batista, C Fantin - Anais da Academia Brasileira de …, 2019 - SciELO Brasil
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations
of a CGG repetition segment in an X chromosome's single gene. It is considered the leading …

FMR1 CGG repeat distribution and linked microsatellite-SNP haplotypes in normal Mexican Mestizo and indigenous populations

XA Felix-López, R Argüello-García, RM Cerda-Flores… - Human biology, 2006 - BioOne
The (CGG) n repeat size distribution in the FMR1 gene was studied in healthy individuals:
80 X chromosomes of Mexican Mestizos from Mexico City and 33 X chromosomes of …

Padecimientos y malformaciones genéticamente determinados

RL Torres - Fundamentos de genética médica para estudiantes …, 2024 - books.google.com
OBJETIVO En este capítulo el objetivo principal es que el alumno sepa que en ciertas pobla-
ciones humanas algunas enfermedades se presentan con más frecuencia que otras, y que …