Results 121 to 130 of about 75,040 (259)

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Lammert de Hoop, Arno Bornebroek, De rode dominee. A.S. Talma

BMGN: Low Countries Historical Review, 2012
Piet Hazenbosch
doaj   +1 more source

CNV loci highly correlated with trait-associated SNPs.

, 2013
This table shows significant SNP-CNV pairs found in high LD. N stands for the number of CNV microarray markers correlated with the SNP genotypes, and r2CEU, r2YRI and r2CHBJPT stand for the linkage disequilibrium measures between the SNP and the CNV ...
Arnald Alonso (429872), Antonio Julià (258036), Sara Marsal (258049), Raül Tortosa (3584111), Oriol Canela-Xandri (31826)   +4 more
core   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Integrative analysis of CNV-ICC-TRN and KEGG signaling pathways.

, 2014
(A). Integrated network of CNV-ICC-TRN and KEGG signaling pathways. Triangle represents TF, circle represents gene and rectangle represents signaling pathway; red color means gene inside CNV region, green color means gene outside CNV region.
Wei Li (7081), Lu Xie (55571), Chao Li (145513), Yuannv Zhang (385506), Ling Li (38566), Jing Li (10611), Baofeng Lian (572694), Yixue Li (18673), Xianghuo He (123411)   +8 more
core   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

International Journal of Women's Health
Guiyuan He,1,* Xi Wang,1,* Beiqing Li,1 Lei Wang,1 Jing Zhang,2 Yang Shi,1 Wenxiu Zhu,1 Ming Shi1,3 1Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of China; 2Department of ...
He G, Wang X, Li B, Wang L, Zhang J, Shi Y, Zhu W, Shi M   +7 more
doaj  

Thai CNV and CNVR characteristics.

, 2014
Thai CNV and CNVR characteristics.
Wallaya Jongjaroenprasert (614574), Wasan Chantratita (614576), Natini Jinawath (247165), Ekawat Pasomsap (614573), Varodom Charoensawan (614578), Bhoom Suktitipat (202143), Wuttichai Mhuantong (614570), Thitima Tularak (614571), Chaiwat Naktang (614569), Suthat Fuchareon (614575), Paramita Artiwet (614572), Boonsit Yimwadsana (614577), Surakameth Mahasirimongkol (126944)   +12 more
core   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Tocilizumab attenuates choroidal neovascularization by regulating macrophage polarization through the IL-6R/STAT3/VEGF pathway

Heliyon
Globally, age-related macular degeneration (AMD) is the leading cause of irreversible visual impairment. Up to 80% of severe vision loss is caused by AMD, which is characterized by the development of choroidal neovascularization (CNV). Uncertainty exists
Yuanyuan Tu, Yang Guo, Haotian Sun, Yuting Zhang, Qiaoyun Wang, Yiqian Xu, Laiqing Xie, Manhui Zhu   +7 more
doaj   +1 more source