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Auteur Randi J. HAGERMAN |
Documents disponibles écrits par cet auteur (18)
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Titre : Fragile x premutation Type de document : Texte imprimé et/ou numérique Auteurs : F. TASSONE, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.22 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult disorders, such as primary ovarian insufficiency and mood and psychiatric disorders; to the late-adult-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). The premutation disorders are thought to arise through a molecular mechanism involving toxicity of the elevated levels of expanded CGG-repeat mRNA ('RNA toxicity'), a process that is entirely distinct from the FMR1 protein-deficiency that gives rise to FXS. However, despite the importance of the spectrum of clinical disorders associated with the premutation, and a high prevalence rate (1 in 130 to 250 females and 1 in 250 to 810 males), relatively little attention has been paid to these disorders and there is a general lack of awareness among clinicians as to the distinction between the premutation disorders and FXS. To address this lack of awareness, an international conference on the premutation was held in Perugia, Italy, in June 2013. The conference covered the expanding range of clinical involvement, refinements of the assessments and tools for characterizing such involvement, and the rapidly expanding understanding of the pathogenic molecular and cellular mechanisms that give rise to the spectrum of involvement among premutation carriers. All of these advances support ongoing efforts to develop new targeted treatments for the premutation disorders. As an outgrowth of the meeting, papers were solicited from the conference attendees such that groups of scientists and clinicians would develop works that broadly covered the topics of the meeting. The following papers represent that effort. En ligne : http://dx.doi.org/10.1186/1866-1955-6-22 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.22[article] Fragile x premutation [Texte imprimé et/ou numérique] / F. TASSONE, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur . - p.22.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.22
Index. décimale : PER Périodiques Résumé : Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult disorders, such as primary ovarian insufficiency and mood and psychiatric disorders; to the late-adult-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). The premutation disorders are thought to arise through a molecular mechanism involving toxicity of the elevated levels of expanded CGG-repeat mRNA ('RNA toxicity'), a process that is entirely distinct from the FMR1 protein-deficiency that gives rise to FXS. However, despite the importance of the spectrum of clinical disorders associated with the premutation, and a high prevalence rate (1 in 130 to 250 females and 1 in 250 to 810 males), relatively little attention has been paid to these disorders and there is a general lack of awareness among clinicians as to the distinction between the premutation disorders and FXS. To address this lack of awareness, an international conference on the premutation was held in Perugia, Italy, in June 2013. The conference covered the expanding range of clinical involvement, refinements of the assessments and tools for characterizing such involvement, and the rapidly expanding understanding of the pathogenic molecular and cellular mechanisms that give rise to the spectrum of involvement among premutation carriers. All of these advances support ongoing efforts to develop new targeted treatments for the premutation disorders. As an outgrowth of the meeting, papers were solicited from the conference attendees such that groups of scientists and clinicians would develop works that broadly covered the topics of the meeting. The following papers represent that effort. En ligne : http://dx.doi.org/10.1186/1866-1955-6-22 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 Fragile X syndrome / Randi J. HAGERMAN
Titre : Fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur ; Paul J. HAGERMAN, Auteur Année de publication : 2002 Importance : p.198-219 Langues : Anglais (eng) Mots-clés : Caractéristiques physiques Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 Fragile X syndrome [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur ; Paul J. HAGERMAN, Auteur . - 2002 . - p.198-219.
Langues : Anglais (eng)
Mots-clés : Caractéristiques physiques Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Fragile X syndrome / Randi J. HAGERMAN
Titre : Fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur Année de publication : 2006 Importance : p.251-264 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=792 Fragile X syndrome [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur . - 2006 . - p.251-264.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=792 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Fragile X syndrome / Mary Jacena S. LEIGH
Titre : Fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Mary Jacena S. LEIGH, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur Année de publication : 2013 Importance : p.57-81 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=190 Fragile X syndrome [Texte imprimé et/ou numérique] / Mary Jacena S. LEIGH, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur . - 2013 . - p.57-81.
Langues : Anglais (eng)
Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=190 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Fragile X syndrome: molecular clinical correlations including an emerging new phenotype in carriers / Randi J. HAGERMAN
Titre : Fragile X syndrome: molecular clinical correlations including an emerging new phenotype in carriers Type de document : Texte imprimé et/ou numérique Auteurs : Randi J. HAGERMAN, Auteur Année de publication : 2005 Importance : p.29-37 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 Fragile X syndrome: molecular clinical correlations including an emerging new phenotype in carriers [Texte imprimé et/ou numérique] / Randi J. HAGERMAN, Auteur . - 2005 . - p.29-37.
Langues : Anglais (eng)
Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Fragile X targeted pharmacotherapy: lessons learned and future directions / C. A. ERICKSON in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
PermalinkGenomic studies in fragile X premutation carriers / R. LOZANO in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
PermalinkImitation in fragile X syndrome: Implications for autism / Marta MACEDONI-LUKSIC in Autism, 13-6 (November 2009)
PermalinkInvestigating Word Learning in Fragile X Syndrome: A Fast-Mapping Study / Andrea MCDUFFIE in Journal of Autism and Developmental Disorders, 43-7 (July 2013)
PermalinkLanguage Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder / Angela John THURMAN in Journal of Autism and Developmental Disorders, 47-3 (March 2017)
PermalinkLatent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome / Melissa RASPA ; Carla M. BANN ; Julia M. GABLE ; Holly K. HARRIS ; Dejan B. BUDIMIROVIC ; Reymundo LOZANO ; Elizabeth BERRY-KRAVIS ; Milen VELINOV ; Amy L. TALBOY ; Stephanie L. SHERMAN ; Walter E. KAUFMANN ; Marcy SCHUSTER ; Nicole TARTAGLIA ; Robyn A. FILIPINK ; Dejan B. BUDIMIROVIC ; Deborah BARBOUTH ; Amy LIGHTBODY ; Allan REISS ; Carol M. DELAHUNTY ; Randi J. HAGERMAN ; David HESSL ; Craig A. ERICKSON ; Gary FELDMAN ; Jonathan D. PICKER ; Ave M. LACHIEWICZ ; Holly K. HARRIS ; Amy ESLER ; Richard E. FRYE ; Patricia A. EVANS ; Mary Ann MORRIS ; Barbara A. HAAS-GIVLER ; Andrea L. GROPMAN ; Ryan S. UY ; Carrie BUCHANAN ; Jean A. FRAZIER ; Stephanie M. MORRIS ; Forward CONSORTIUM in Journal of Autism and Developmental Disorders, 54-2 (February 2024)
PermalinkNeuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome / Claudia M. GRECO in Molecular Autism, (February 2011)
PermalinkA randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome / A. LIGSAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
PermalinkReceptive Vocabulary in Boys with Autism Spectrum Disorder: Cross-Sectional Developmental Trajectories / Sara T. KOVER in Journal of Autism and Developmental Disorders, 43-11 (November 2013)
PermalinkScreening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder / Angel Belle C. DY in Journal of Autism and Developmental Disorders, 53-11 (November 2023)
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