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Developmental trajectory of communication repair in children with Fragile X Syndrome
Autism and Developmental Language Impairments, 2020 Background and aims The development of communicative competence requires both language and social skills. The ability to repair following a communication breakdown is critical for continued conversational interchange and to ensure comprehension of bids ...
Heather Fielding-Gebhardt +2 more
doaj +1 more source
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
core +2 more sources
Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene.
Cell, 2018 Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males, is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG expansion mutation in the 5' UTR of FMR1 in FXS patients.
Shawn Liu +14 more
semanticscholar +1 more source
Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene [PDF]
, 2016 Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years.
Arrieta Saez, María Isabel +5 more
core +8 more sources
Autism and Developmental Language Impairments, 2017 Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome.
Emily Lorang, Audra Sterling,
doaj +1 more source
Diagnosis of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and ...
J Gordon Millichap
doaj +1 more source
Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development [PDF]
, 1998 The fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and expanding trinucleotide CGG repeat located in the 5'-untranslated region ...
Bakker, C.E. (Cathy) +7 more
core +6 more sources
Epilepsy and Fragile X Syndrome
Pediatric Neurology Briefs, 2003 The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL.
J Gordon Millichap
doaj +1 more source
Fragile X syndrome: Current insight
Egyptian Journal of Medical Human Genetics, 2016 Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families. It is the most common type of intellectual disability after Down’s syndrome. Over two decades have passed since
Deepika Delsa Dean +2 more
doaj +1 more source
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source