FMR1 premutation allele (CGG)(81) is stable in mice

CJM Bontekoe, E de Graaff… - European Journal of …, 1997 - karger.com
Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5'UTR of
the FMR1 gene. A lot has been elucidated about the genetics of the disease, but not much is …

Fully Expanded FMR1CGG Repeats Exhibit a Length-and Differentiation-Dependent Instability in Cell Hybrids That is Independent of DNA Methylation

RW Burman, BW Popovich, PB Jacky… - Human molecular …, 1999 - academic.oup.com
The fragile X syndrome is characterized at the molecular level by expansion and methylation
of a CGG trinucleotide repeat located within the FMR1 locus. The tissues of most full …

Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice

AM Peier, DL Nelson - Genomics, 2002 - Elsevier
Fragile X syndrome results from the massive expansion of a CGG repeat in the 5′
untranslated region of the gene FMR1. Data suggest that the hyperexpansion properties of …

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

E Mornet, C Chateau, A Taillandier, B Simon-Bouy… - Human genetics, 1996 - Springer
Fragile X syndrome, the most common cause of hereditary mental retardation, results from
amplification of a CGG trinucleotide repeat in the FMR1 gene. The transmission of the CGG …

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

L Vits, K De Boulle, E Reyniers, I Handig, JK Darby… - Human genetics, 1994 - Springer
The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the
FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of …

Instability of a (CGG)98 repeat in the Fmr1 promoter

CJM Bontekoe, CE Bakker… - Human molecular …, 2001 - academic.oup.com
Fragile X syndrome is one of 14 trinucleotide repeat diseases. It arises due to expansion of a
CGG repeat which is present in the 5′-untranslated region of the FMR1 gene, disruption of …

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

E Graaff, P Rouillard, P J. Willems… - Human molecular …, 1995 - academic.oup.com
The fragile X syndrome is the most frequent cause of inherited mental retardation. The
molecular mechanism of the disorder is based on the expansion of a CGG repeat in the …

Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1

S Datta, MP Alam, SS Majumdar, AK Mehta… - Chromosome …, 2011 - Springer
The expansion of CGG repeats in the 5′-untranslated region (5′ UTR) of FMR1 gene is
the molecular basis of fragile X syndrome in most of the patients. The nature of the flanking …

[PDF][PDF] Expansion of an intermediate allele of the FMR1 gene in only two generations

A Zuniga, J Juan, M Mila, A Guerrero - Clinical genetics, 2005 - academia.edu
The fragile X syndrome is a common form of familial mental retardation with an estimated
prevalence of 1/4000–1/6000 for males in western countries (1–3). The main clinical …

Normal phenotype in two brothers with a full FMR1 mutation

HJM Smeets, APT Smits, CE Verheij… - Human molecular …, 1995 - academic.oup.com
The fragile X syndrome is associated with an expanding CGG repeat in the 5'untranslated
region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region …