Current Situation of Paediatric and Adult Patients With Fragile X Syndrome: Preliminary Data From the Explain Fxs Registry [PDF]
Value in Health, 2014 Haessler, F. +8 more
openaire +3 more sources
Health Care Resource Use and Direct Costs Associated with Fragile X Syndrome (FXS) in the United States [PDF]
Value in Health, 2013 Vekeman, F. +6 more
openaire +2 more sources
Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2012 Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder.
Onur Ozer +8 more
doaj
Macroorchidism as presenting feature of Fragile X Syndrome [PDF]
, 2013 Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability.1 We report the case of a 6-yearold boy who presented with the complaints of excessive cry and increased testicular volume, during the preceding six months. Physical
T. Sriram Karthik +5 more
core +1 more source
Fragile X syndrome and connective tissue dysregulation
, 2018 Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein.
Duque G.A. +13 more
core +1 more source
Emerging pharmacologic treatment options for fragile X syndrome
, 2015 Tori L Schaefer, Matthew H Davenport, Craig A Erickson Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Abstract: Fragile X syndrome (FXS) is the most common single gene cause of ...
Schaefer TL, Erickson CA, Davenport MH
core
Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation And Intermediate Allele Carriers [PDF]
, 2018 Fragile X syndrome (FXS) is caused by a triplet repeat expansion on the FMR1 gene. Individuals with \u3e200 repeats have FXS, while individuals between 45-54 and 55- 200 repeats have the FMR1 intermediate allele and premutation, respectively.
Saadat Girnary, Zahra
core +1 more source
Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report [PDF]
Journal of Basic Research in Medical SciencesFragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead.
Ahoura Nozari +4 more
doaj
Nature CommunicationsFragile X syndrome (FXS) is an inherited form of intellectual disability caused by the loss of the mRNA-binding fragile X mental retardation protein (FMRP). FXS is characterized by neuronal hyperexcitability and behavioral defects, however the mechanisms
Danijela Bataveljic +9 more
doaj +1 more source
Women with the FMR1 premutation: a within-family observational sibling study
BMJ Connections Clinical Genetics and GenomicsIntroduction Understanding the relative risk of the fragile X messenger ribonucleoprotein 1 (FMR1) premutation (PM) versus the risk of the PM and parenting a child with fragile X syndrome (FXS) is critical for PM carriers, their families and clinicians ...
Jinkuk Hong +4 more
doaj +1 more source