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
doaj +2 more sources
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
doaj +2 more sources
Psychopathology in Fragile X Syndrome
Pediatric Neurology Briefs, 1989 The physical and behavioral features of the fragile X syndrome are reviewed in a paper from the Child Development Unit and Behavioral Sciences Department, Children’s Hospital, Denver.
J Gordon Millichap
doaj +2 more sources
Fragile X Females and Psychiatric Disorders
Pediatric Neurology Briefs, 1993 Psychiatric and developmental difficulties in 17 young females with the fragile X mutation were compared with a non-fragile X female group in a controlled study reported from the Department of Psychiatry, Division of Child and Adolescent Psychiatry, The ...
J Gordon Millichap
doaj +2 more sources
Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved]
F1000Research, 2017 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;
Akash Rajaratnam +5 more
doaj +2 more sources
An indirect examination of the function of problem behaviour associated with Fragile X Syndrome and Smith-Magenis Syndrome [PDF]
, 2011 Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups.
Peter McGill +3 more
core +1 more source
hbc/Molecular-convergence-between-Down-syndrome-and-Fragile-X-syndrome-hPSCs:
, 2022 Code repository for the paper "Molecular convergence between Down syndrome and Fragile X syndrome identified using human pluripotent stem cell ...
Victor Barrera
core +1 more source
Fragile X syndrome: cognitive and adaptive functioning in the pediatric sample of Padua [PDF]
, 2023 openIl presente elaborato di tesi approfondisce la Sindrome X Fragile, un disordine del neurosviluppo di origine genetica che causa disabilità intellettiva e diagnosi di autismo.
PAVAN, BEATRICE
core
NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
, 2010 Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core +1 more source
RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]
, 2009 Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core +1 more source