نتایج جستجو برای: fragile x syndrome

تعداد نتایج: 1201318  

Journal: :American journal of mental retardation : AJMR 2003
Leonard Abbeduto Melissa M Murphy Stephanie W Cawthon Erica K Richmond Michelle D Weissman Selma Karadottir Anne O'Brien

We investigated the receptive language of adolescents and young adults with Down syndrome (n = 25) or fragile X syndrome (n = 19). We were interested in syndrome differences and gender differences within fragile X. Comparison of the syndromes and MA-matched typically developing children (n = 24) revealed that individuals with the syndromes differed in relative achievements across the domains of...

2017
Akash Rajaratnam Jasdeep Shergill Maria Salcedo-Arellano Wilmar Saldarriaga Xianlai Duan Randi Hagerman

Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...

Journal: :Journal of intellectual disability research : JIDR 2006
P Lewis L Abbeduto M Murphy E Richmond N Giles L Bruno S Schroeder J Anderson G Orsmond

BACKGROUND Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet criteria for a co-morbid diagnosis of autism. It ...

Journal: :Pediatrics 2012
Liane Abrams Amy Cronister William T Brown Flora Tassone Stephanie L Sherman Brenda Finucane Allyn McConkie-Rosell Randi Hagerman Walter E Kaufmann Jonathan Picker Sarah Coffey Debra Skinner Vanessa Johnson Robert Miller Elizabeth Berry-Kravis

Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ova...

Journal: :American journal of medical genetics. Part A 2008
Bradford Coffee Morna Ikeda Dejan B Budimirovic Lawrence N Hjelm Walter E Kaufmann Stephen T Warren

The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5'UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here ...

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003
Naama Barnea-Goraly Stephan Eliez Maj Hedeus Vinod Menon Christopher D White Michael Moseley Allan L Reiss

Fragile X syndrome, the most common form of hereditary mental retardation, causes disruption in the development of dendrites and synapses, the targets for axonal growth in the central nervous system. This disruption could potentially affect the development, wiring, and targeting of axons. The current study utilized diffusion tensor imaging (DTI) to investigate whether white matter tract integri...

Journal: :Revista de neurologia 2001
K Cornish F Munir J Wilding

INTRODUCTION Fragile X syndrome is a well-recognised cause of developmental delay in males and to a lesser extent females. The aim of the present study was to present a detailed cognitive and behaviour analysis of the core attention impairments frequently associated with fragile X. PATIENTS AND METHODS Two complementary studies were conducted. Study 1 examined the severity and range of behavi...

Journal: :Developmental Psychobiology 2011

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید