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Stormy J Chamberlain

Showing results (21-30 of 35) with videos related to

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Stem Cell Reports|March 10, 2023
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neuronsMarwa Elamin, Aurelie Dumarchey, Christopher Stoddard, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 30, 2010
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromesStormy J Chamberlain, Pin-Fang Chen, Khong Y Ng, et al.
Human Molecular Genetics|October 2, 2004
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion miceStormy J Chamberlain, Karen A Johnstone, Amanda J DuBose, et al.
Human Molecular Genetics|August 25, 2020
Abundance and localization of human UBE3A protein isoformsCarissa L Sirois, Judy E Bloom, James J Fink, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2019
A bipartite boundary element restricts <i>UBE3A</i> imprinting to mature neuronsJack S Hsiao, Noelle D Germain, Andrea Wilderman, et al.
Cell Chemical Biology|September 23, 2020
Identification of Small-Molecule Activators of the Ubiquitin Ligase E6AP/UBE3A and Angelman Syndrome-Derived E6AP/UBE3A VariantsFabian Offensperger, Franziska Müller, Jasmin Jansen, et al.
Human Molecular Genetics|December 24, 2013
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletionKristen Martins-Taylor, Jack S Hsiao, Pin-Fang Chen, et al.
Nature Communications|April 25, 2017
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cellsJames J Fink, Tiwanna M Robinson, Noelle D Germain, et al.
Biological Psychiatry|September 20, 2021
Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of AutismJames J Fink, Jeremy D Schreiner, Judy E Bloom, et al.
Human Molecular Genetics|September 25, 2020
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neuronsMaéva Langouët, Dea Gorka, Clarisse Orniacki, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Stem Cell Reports|March 10, 2023
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neuronsMarwa Elamin, Aurelie Dumarchey, Christopher Stoddard, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 30, 2010
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromesStormy J Chamberlain, Pin-Fang Chen, Khong Y Ng, et al.
Human Molecular Genetics|October 2, 2004
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion miceStormy J Chamberlain, Karen A Johnstone, Amanda J DuBose, et al.
Human Molecular Genetics|August 25, 2020
Abundance and localization of human UBE3A protein isoformsCarissa L Sirois, Judy E Bloom, James J Fink, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2019
A bipartite boundary element restricts <i>UBE3A</i> imprinting to mature neuronsJack S Hsiao, Noelle D Germain, Andrea Wilderman, et al.
Cell Chemical Biology|September 23, 2020
Identification of Small-Molecule Activators of the Ubiquitin Ligase E6AP/UBE3A and Angelman Syndrome-Derived E6AP/UBE3A VariantsFabian Offensperger, Franziska Müller, Jasmin Jansen, et al.
Human Molecular Genetics|December 24, 2013
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletionKristen Martins-Taylor, Jack S Hsiao, Pin-Fang Chen, et al.
Nature Communications|April 25, 2017
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cellsJames J Fink, Tiwanna M Robinson, Noelle D Germain, et al.
Biological Psychiatry|September 20, 2021
Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of AutismJames J Fink, Jeremy D Schreiner, Judy E Bloom, et al.
Human Molecular Genetics|September 25, 2020
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neuronsMaéva Langouët, Dea Gorka, Clarisse Orniacki, et al.
Pageof 4