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Case Reports in Genetics
|
January 22, 2025
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report
Hasan Hasan, Ellery R Santos, Seyedeh Ala Mokhtabad Amrei, et al.
Expert Review of Molecular Diagnostics
|
September 21, 2017
Size and methylation mosaicism in males with Fragile X syndrome
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, et al.
BMC Medical Genetics
|
January 15, 2005
Neural progenitor cells from an adult patient with fragile X syndrome
Philip H Schwartz, Flora Tassone, Claudia M Greco, et al.
Journal of Pediatric Hematology/Oncology
|
April 1, 2008
Two boys with fragile x syndrome and hepatic tumors
Juthamas Wirojanan, Jeremy Kraff, Douglas S Hawkins, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2012
Reduced telomere length in individuals with FMR1 premutations and full mutations
Edmund C Jenkins, Flora Tassone, Lingling Ye, et al.
Journal of Neurodevelopmental Disorders
|
November 15, 2012
Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed
Ling M Wong, Naomi J Goodrich-Hunsaker, Yingratana McLennan, et al.
Frontiers in Neurology
|
August 29, 2019
Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the <i>FMR1</i> Premutation
Darren R Hocking, Danuta Z Loesch, Nicholas Trost, et al.
Journal of Assisted Reproduction and Genetics
|
September 25, 2024
Population-based FMR1 carrier screening among reproductive women
Quratul Ain, Ye Hyun Hwang, Daryl Yeung, et al.
RNA (New York, N.Y.)
|
February 7, 2007
Elevated FMR1 mRNA in premutation carriers is due to increased transcription
Flora Tassone, Alexandra Beilina, Chiara Carosi, et al.
Journal of Autism and Developmental Disorders
|
March 7, 2007
Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder
David Hessl, Flora Tassone, Lisa Cordeiro, et al.
Page
of 35
Search research articles
Search
Showing results (151-160 of 348) with videos related to
Sort By:
Page
of 35
Case Reports in Genetics
|
January 22, 2025
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report
Hasan Hasan, Ellery R Santos, Seyedeh Ala Mokhtabad Amrei, et al.
Expert Review of Molecular Diagnostics
|
September 21, 2017
Size and methylation mosaicism in males with Fragile X syndrome
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, et al.
BMC Medical Genetics
|
January 15, 2005
Neural progenitor cells from an adult patient with fragile X syndrome
Philip H Schwartz, Flora Tassone, Claudia M Greco, et al.
Journal of Pediatric Hematology/Oncology
|
April 1, 2008
Two boys with fragile x syndrome and hepatic tumors
Juthamas Wirojanan, Jeremy Kraff, Douglas S Hawkins, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2012
Reduced telomere length in individuals with FMR1 premutations and full mutations
Edmund C Jenkins, Flora Tassone, Lingling Ye, et al.
Journal of Neurodevelopmental Disorders
|
November 15, 2012
Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed
Ling M Wong, Naomi J Goodrich-Hunsaker, Yingratana McLennan, et al.
Frontiers in Neurology
|
August 29, 2019
Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the <i>FMR1</i> Premutation
Darren R Hocking, Danuta Z Loesch, Nicholas Trost, et al.
Journal of Assisted Reproduction and Genetics
|
September 25, 2024
Population-based FMR1 carrier screening among reproductive women
Quratul Ain, Ye Hyun Hwang, Daryl Yeung, et al.
RNA (New York, N.Y.)
|
February 7, 2007
Elevated FMR1 mRNA in premutation carriers is due to increased transcription
Flora Tassone, Alexandra Beilina, Chiara Carosi, et al.
Journal of Autism and Developmental Disorders
|
March 7, 2007
Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder
David Hessl, Flora Tassone, Lisa Cordeiro, et al.
Page
of 35