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Flora Tassone

Showing results (241-250 of 348) with videos related to

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The Journal of Clinical Psychiatry|January 24, 2006
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementiaSusan Bacalman, Faraz Farzin, James A Bourgeois, et al.
Plos One|August 2, 2014
Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndromeChantal Sellier, Vicki J Hwang, Ravi Dandekar, et al.
Frontiers in Genetics|October 4, 2014
Clinical and molecular implications of mosaicism in FMR1 full mutationsDalyir Pretto, Carolyn M Yrigollen, Hiu-Tung Tang, et al.
The Journal of Molecular Diagnostics : JMD|July 10, 2010
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysisLiangjing Chen, Andrew Hadd, Sachin Sah, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanismsDanuta Z Loesch, David E Godler, Mahmoud Khaniani, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic ModifierDanuta Z Loesch, Freddy Chafota, Minh Q Bui, et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology|September 8, 2006
Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)Jim Grigsby, Maureen A Leehey, Sébastien Jacquemont, et al.
Cerebellum (London, England)|July 4, 2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case SeriesSarah M Debrey, Maureen A Leehey, Olga Klepitskaya, et al.
Translational Neurodegeneration|May 23, 2013
Intranuclear inclusions in a fragile X mosaic maleDalyir I Pretto, Michael R Hunsaker, Christopher L Cunningham, et al.
Clinical Chemistry|January 9, 2010
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndromeStela Filipovic-Sadic, Sachin Sah, Liangjing Chen, et al.
Pageof 35

Showing results (241-250 of 348) with videos related to

Sort By:
Pageof 35
The Journal of Clinical Psychiatry|January 24, 2006
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementiaSusan Bacalman, Faraz Farzin, James A Bourgeois, et al.
Plos One|August 2, 2014
Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndromeChantal Sellier, Vicki J Hwang, Ravi Dandekar, et al.
Frontiers in Genetics|October 4, 2014
Clinical and molecular implications of mosaicism in FMR1 full mutationsDalyir Pretto, Carolyn M Yrigollen, Hiu-Tung Tang, et al.
The Journal of Molecular Diagnostics : JMD|July 10, 2010
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysisLiangjing Chen, Andrew Hadd, Sachin Sah, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanismsDanuta Z Loesch, David E Godler, Mahmoud Khaniani, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic ModifierDanuta Z Loesch, Freddy Chafota, Minh Q Bui, et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology|September 8, 2006
Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)Jim Grigsby, Maureen A Leehey, Sébastien Jacquemont, et al.
Cerebellum (London, England)|July 4, 2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case SeriesSarah M Debrey, Maureen A Leehey, Olga Klepitskaya, et al.
Translational Neurodegeneration|May 23, 2013
Intranuclear inclusions in a fragile X mosaic maleDalyir I Pretto, Michael R Hunsaker, Christopher L Cunningham, et al.
Clinical Chemistry|January 9, 2010
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndromeStela Filipovic-Sadic, Sachin Sah, Liangjing Chen, et al.
Pageof 35