Results 71 to 80 of about 6,083,486 (156)

Síndrome frágil X Fragile X Syndrome

Revista Cubana de Investigaciones Biomédicas, 2007
Se efectuó una revisión sobre el síndrome frágil X, del cual en Cuba no existían reportes desde el punto de vista poblacional, hasta la realización del estudio psicopedagógico, social y clínico genético de las personas con retraso mental; mediante el ...
doaj  

Altered GABA signalling in a mouse model of fragile X syndrome.

, 2007
The absence of fragile X mental retardation protein results in the fragile X syndrome (FXS), a common form of mental retardation associated with attention deficit, autistic behavior, and epileptic seizures. The phenotype of FXS is reproduced in fragile X
Papouin T, CURIA, GIULIA, Seguela P, Avoli M.   +3 more
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Relation between mathemathical abilities and other cognitive domains in X-Fragile syndrome [PDF]

openIl presente elaborato si propone di offrire un quadro generale sullo stato della ricerca attuale riguardo le abilità numeriche nei soggetti affetti da sindrome di X Fragile.
POTENZA, ROBERTA
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Prader-Willi-like phenotype in fragile X syndrome

, 1994
Prader-Willi-like phenotype in fragile X syndrome. Schrander-Stumpel C, Gerver WJ, Meyer H, Engelen J, Mulder H, Fryns JP. Department of Clinical Genetics, Maastricht University Hospital, The Netherlands.
Frijns, J.P., Gerver, W.J.M., Mulder, H., Schrander-Stumpel, C.T.R.M., Meyer, H., Engelen, J.J.M.   +5 more
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Fragile X-associated disorders: Don't miss them [PDF]

, 2017
Background Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene.
Birch, RC ; https://orcid.org/, Trollor, JN ; https://orcid.org/, Cohen, J   +2 more
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Genotype prediction in the fragile X syndrome.

, 2016
Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis

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Special issue: Fragile X syndrome

, 2017
In this issue of Science Signaling , three papers uncover molecular mechanisms of neurological dysfunction in animal models of fragile X syndrome.
Leslie K. Ferrarelli
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Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

SAGE Open Medicine
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone   +22 more
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Fragile X syndrome and associated disorders.

, 2010
Fragile X syndrome and associated ...
KM Cornish (15878864), KM Gray (9965792), NJ Rinehart (10307216)   +2 more
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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
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