Results 31 to 40 of about 206,873 (358)
Fragile X Syndrome Recognition
Pediatric Neurology Briefs, 1989 The clinical characteristics of 20 children younger than 7½ years of age with the fragile X syndrome were reviewed at the Cincinnati Center for Developmental Disorders, Children’s Hospital Medical Center, University of Cincinnati College of Medicine ...
J Gordon Millichap
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Biological Psychiatry, 1995 Fragile X syndrome is the most important X-linked etiology of mental retardation and developmental disability currently known. Accumulating evidence also indicates that male and female carriers of the fragile X genetic abnormality demonstrate a relatively specific pattern of psychiatric disturbance.
Allan L. Reiss, L Freund
openaire +6 more sources
Science Translational Medicine, 2020 Selective inhibition of GSK3α corrects diverse impairments in the Fmr1−/y mouse model of fragile X syndrome. Blocking GSK3α in a fragile X mouse model Fragile X syndrome is a heritable cause of autism and intellectual disability.
Patrick K. McCamphill +16 more
semanticscholar +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
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A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 2004 Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
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Pediatric Neurology Briefs, 2000 The proceedings of the 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation, held in Strasbourg, France, are reported from the University Hospital of Leuven, Belgium.
J Gordon Millichap
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Manifestaciones neurológicas en el adulto con premutación X frágil [PDF]
, 2010 Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
Cabanyes-Truffin, J. (J.)
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Cognitive and behavioral heterogeneity in genetic syndromes [PDF]
, 2014 Objectivethis study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds.Methodsthirty ...
Banzato, Claudio E.M. +4 more
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Neuroanatomy of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Posterior fossa abnormalities measured by magnetic resonance images of the brain were reported in a group of 14 males with fragile X syndrome from the Division of Child Psychiatry, and the Departments of Psychiatry and Radiology, The Johns Hopkins ...
J Gordon Millichap
doaj +1 more source
Fragile X Syndrome and Targeted Treatments
Journal of Biomedicine and Translational Research, 2020 Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich +3 more
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