Results 171 to 180 of about 4,503 (204)

Development of the child’s voice: premutation, mutation

International Journal of Pediatric Otorhinolaryngology, 1999
Voice range profile (VRP) measurement was used to evaluate the vocal capabilities of 180 children aged between 4 and 12 years without voice pathology. There were 10 boys and 10 girls in each age group. Using an automatic VRP measurement system, F0 and SPL dB (lin) were determined and displayed two-dimensionally in real time.
T, Hacki, S, Heitmüller
openaire   +2 more sources

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

American Journal of Medical Genetics Part A, 2010
AbstractWe report on the fortuitous finding of a paternal premutation of the FMR1 gene during prenatal diagnosis in a female fetus whose mother was known to be a premutation carrier. Analysis of the DNA, extracted from cultured cells obtained by chorionic villus sampling, demonstrated the presence in the fetus of two FMR1 alleles of 23 and 71 CGG ...
Pomponi, Maria Grazia, Pietrobono, Roberta, Neri, Caterina, Chiurazzi, Pietro, Neri, Giovanni   +4 more
openaire   +3 more sources

Assessing Fragile X Premutation Carriers' Knowledge of the Premutation Phenotype

2009
Fragile X syndrome (FXS) is the most common form of inherited cognitive impairment and a known genetic cause of autism. Initially, carriers of the FXS premutation were thought to only be at risk for having a child or grandchild with FXS. However, it has been found that premutation carriers are at risk for conditions not seen in carriers of the full ...
openaire   +1 more source

[Premutation in myotonic dystrophy].

Nihon rinsho. Japanese journal of clinical medicine, 1999
Myotonic dystrophy(MyD) is caused by the abnormal expansion of CTG repeats in the 3' untranslated region of a gene encoding a protein kinase. Although some sporadic cases of MyD have been reported, the molecular basis of the intergenerational CTG expansion from asymptomatic parents is not fully understood.
K, Komai, Y, Matsumoto, M, Takamori
openaire   +1 more source

Executive Dysfunction in Female FMR1 Premutation Carriers

The Cerebellum, 2016
There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive function. While an age-related decline in assessments of executive function has been found for male premutation carriers, few studies have explored ...
Annie L, Shelton, Kim M, Cornish, Claudine M, Kraan, Reymundo, Lozano, Minh, Bui, Joanne, Fielding   +5 more
openaire   +2 more sources

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

The Cerebellum, 2016
The wide spectrum of clinical phenotypes associated with the FMR1 premutation affect more than two million people worldwide. The clinical implications have only been recognized recently despite this disorder constitutes a relevant health problem.
Montserrat, Milà, Laia, Rodriguez-Revenga, Antoni, Matilla-Dueñas   +2 more
openaire   +2 more sources

Fragile X premutation presenting as essential tremor

Journal of Neurology, Neurosurgery & Psychiatry, 2008
Essential tremor (ET) is one of the most common movement disorders seen in routine neurological practice, but other diseases may mimic this condition. Here we describe a 62-year-old right-handed man with an action (kinetic) tremor fulfilling diagnostic criteria for ET which was the presenting feature of the fragile X associated tremor/ataxia syndrome ...
G, Gorman, S, Fairgrieve, D, Birchall, P F, Chinnery   +3 more
openaire   +2 more sources

Arithmetic difficulties in females with the fragile X premutation

American Journal of Medical Genetics Part A, 2006
AbstractFemales with the fragile X full mutation have been reported to have difficulty learning mathematics. Women with the fragile X premutation often give a history of mathematics difficulties in themselves especially with higher level math. In order to evaluate whether women with the premutation have difficulty with math, we asked women with both ...
Ave M, Lachiewicz, Deborah V, Dawson, Gail A, Spiridigliozzi, Allyn, McConkie-Rosell   +3 more
openaire   +2 more sources

Neurobehavioral phenotype in carriers of the fragile X premutation

American Journal of Medical Genetics, 2001
There have been contradictory findings in the fragile X (fraX) literature about possible neurocognitive and psychological symptoms due to the fraX premutation (pM). The purpose of the present study was to investigate the relationship between CGG repeat length and neurobehavioral functioning in carriers of the fraX pM. Eighty-five female carriers of the
C, Johnston, S, Eliez, J, Dyer-Friedman, D, Hessl, B, Glaser, C, Blasey, A, Taylor, A, Reiss   +7 more
openaire   +2 more sources

Mood and anxiety disorders in females with the FMR1 premutation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008
AbstractFragile X syndrome (FXS) is a model for studying the relative contributions of genetic and environmental factors to psychiatric disorders in mothers of children with disabilities. Here, we examine the frequency and predictors of mood and anxiety disorders in mothers with the FMR1 premutation.
Jane E, Roberts, Donald B, Bailey, Jean, Mankowski, Amy, Ford, John, Sideris, Leigh Anne, Weisenfeld, T Morgan, Heath, Robert N, Golden   +7 more
openaire   +2 more sources