Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Geraldine Bliss"'
Autor:
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual
Externí odkaz:
https://doaj.org/article/6a99ab8229bd44dfa398029474c7791b
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results The Externally Led Patient-Foc
Externí odkaz:
https://doaj.org/article/c76bfb9944134a169b74eae592f6de97
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, and
Externí odkaz:
https://doaj.org/article/a447936938c646918af694d169c5593f
Autor:
Dale C. Hesdorffer, PhD, Barbara L. Kroner, PhD, Jing Shen, PhD, Kathleen Farrell, MB, BCh, BAO, Steve Roberds, PhD, Brandy Fureman, PhD, Brianne McDonald, Lynn Egan, Monika Jones, Monica Weldon, Michael Harris, Kim Rice, Vinez Campbell, Juliann Brandish, Cindy Kercheval, Nichole Villas, Mary Ann Meskis, Vanessa Vogel-Farley, Ilene Miller, JD, Mike Bartenhagen, Heidi Grabenstatter, PhD, Karen Utley, Paige Nues, Angela Cherry, Gina Vozenilek, Scotty Sims, Tracy Dixon Salazar, PhD, Christina SanInocencio, MS, Stephanie Forman, Nora Wong, Kim Bischoff, Julie Walters, Megan O’Boyle, Geraldine Bliss, Audrey Davidow, Lisa Schoyer, Yssa DeWoody, PhD, Kira Wagner, Michael Arcieri, Amber Freed, Kim Nye, Jo Anne Nakagawa, JayEtta Hecker
Publikováno v:
The Journal of Pediatrics: X, Vol 2, Iss , Pp 100021- (2020)
Objective: To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring of children with rare epilepsy syndromes on the sleep quality and mental health of caregivers. Study design: A cross-sectional study was conducted usi
Externí odkaz:
https://doaj.org/article/4d344e0f844b48a68a42cce3eb0d52ce
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, and renal ano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a8831d17867891c04f240af23314dd6
http://link.springer.com/article/10.1186/s13023-020-01389-6
http://link.springer.com/article/10.1186/s13023-020-01389-6
Autor:
Ilene Miller, Amber Freed, Yssa DeWoody, Kim Nye, Karen Utley, Julie Walters, Heidi L. Grabenstatter, JayEtta Hecker, Jo Anne Nakagawa, Monica Weldon, Mary Ann Meskis, Cindy Kercheval, Dale C. Hesdorffer, Gina Vozenilek, Barbara Kroner, Monika Jones, Vinez Campbell, Nora Wong, Geraldine Bliss, Audrey Davidow, Michael R. Harris, Kira Wagner, Megan O’Boyle, Mike Bartenhagen, Scotty Sims, Kim Rice, Lisa Schoyer, Nichole Villas, Kim Bischoff, Jing Shen, Christina SanInocencio, Kathleen Farrell, Vanessa Vogel-Farley, Lynn Egan, Juliann Brandish, Angela Cherry, Brianne McDonald, Brandy E. Fureman, Steve Roberds, Tracy Dixon Salazar, Michael Arcieri, Paige Nues, Stephanie Forman
Publikováno v:
The Journal of Pediatrics: X, Vol 2, Iss, Pp 100021-(2020)
Objective To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring of children with rare epilepsy syndromes on the sleep quality and mental health of caregivers. Study design A cross-sectional study was conducted using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f723d49822266836e5033d3ce31e3d0c
https://doi.org/10.1016/j.ympdx.2020.100021
https://doi.org/10.1016/j.ympdx.2020.100021
Autor:
Geraldine Bliss, Sarita Wahba, Rosemary Madigan, Edward Septimus, John D. Lantos, David Wendler
Publikováno v:
Clinical Trials. 12:485-493
The classification system for categorizing the riskiness of a clinical trial is largely defined by the body of federal regulations known as the Common Rule (45 CFR 46, Subpart A) and by regulations governing the US Food and Drug Administration (FDA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb15ae9727239958fabf87e32176aef
https://doi.org/10.1177/1740774515597687
https://doi.org/10.1177/1740774515597687
Autor:
Nhan Thi Ho, Barbara Kroner, Zachary Grinspan, Brandy Fureman, Kathleen Farrell, Jingzhou Zhang, Janice Buelow, Dale C. Hesdorffer, Brianne McDonald, Monica Weldon, Juliann Bradish, Vanessa Vogel-Farley, Paige Nues, Tracy Dixon-Salazar, Geraldine Bliss, Yssa DeWoody, Jo Anne Nakagawa, Michael Harris, Glen Arm, Heather Jackson, Ilene Miller, Gina Vozenilek, Nora Wong, Audrey Davidow, Kira Wagner, JayEtta Hecker, Lynn Egan, Heidi Grabenstatter, Mary Anne Meskis, Mike Bartenhagen, Scotty Sims, Julie Walters, Lisa Schoyer, Kim Nye
Publikováno v:
The Journal of Pediatrics. 203:249-258.e5
To describe the prevalence and characteristics of comorbidities in persons with rare epilepsies.Persons with rare epilepsies and caregivers of those affected were recruited through the Epilepsy Foundation and more than 30 rare epilepsy advocacy organ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d8414b3fa41111f51f91266661bc69a
https://doi.org/10.1016/j.jpeds.2018.07.055
https://doi.org/10.1016/j.jpeds.2018.07.055