Results 71 to 80 of about 2,746,413 (301)

A stroke gene panel for whole-exome sequencing [PDF]

European Journal of Human Genetics, 2018
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations.
Andreea, Ilinca, Sofie, Samuelsson, Paul, Piccinelli, Maria, Soller, Ulf, Kristoffersson, Arne G, Lindgren   +5 more
openaire   +2 more sources

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Tommaso Pippucci (497773), Antonia Parmeggiani (497774), Parmeggiani, A., Cucca, Francesco, F. Cucca, Crisponi, Laura, A. Angius, Valentino, M. L., Valerio Carelli (24588), Maresca, Alessandra, F. Palombo, Flavia Palombo, Alessandra Maresca, Flavia Palombo (497775), Laura Crisponi (186209), Palombo, Flavia, Laura Crisponi, Francesco Cucca (145742), Francesco Cucca, Seri, Marco, L. Crisponi, Carelli, V., Marco Seri (497777), Liguori, Rocco, Liguori, R., Seri, M., Pippucci, Tommaso, Maria Lucia Valentino, Parmeggiani, Antonia, Angius, A., Valentino, Maria Lucia, Angius, Andrea, Maria Lucia Valentino (144915), Valerio Carelli, Rocco Liguori (144916), Andrea Angius, Carelli, Valerio, Andrea Angius (374302), Antonia Parmeggiani, Marco Seri, Pippucci, T., Alessandra Maresca (497776), Rocco Liguori, Palombo, F., Cucca, F., Tommaso Pippucci, Maresca, A.   +46 more
core   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nature Communications, 2017
Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson   +56 more
doaj   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

JAMA Neurology, 2016
Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.To identify genetic variants contributing to disease risk in familial PD.A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the
Farlow, Janice L., Robak, Laurie A., Hetrick, Kurt, Bowling, Kevin, Boerwinkle, Eric, Coban-Akdemir, Zeynep H., Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Porter, Paula, Pugh, Elizabeth, White, Janson, Doheny, Kimberly, Myers, Richard M., Shulman, Joshua M., Foroud, Tatiana   +25 more
openaire   +2 more sources

Advanced Materials for Biologics Delivery to Brain Tumors

Advanced Materials, EarlyView.
Material innovation is central to unlocking the therapeutic potential of biologics against many central nervous system diseases, including brain cancer. By engineering carriers with controlled transport, targeting, and release properties, advanced materials can overcome the blood–brain barrier and tumor microenvironment, improving the delivery of ...
Yuran Feng, Yuxue Cao, Maria Kavallaris, Taskeen Janjua, Amirali Popat   +4 more
wiley   +1 more source

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis

Orphanet Journal of Rare Diseases
Background Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services
Wangji Zhou, Yixuan Li, Haixia Zheng, Miao He, Miaoyan Zhang, Qiaoling Chen, Christopher Situ, Yaqi Wang, Ting Zhang, Keqi Chen, Jinrong Dai, Shuzhen Meng, Xueqi Liu, Aohua Wu, Yaping Liu, Kai-Feng Xu, Xinlun Tian, Xue Zhang   +17 more
doaj   +1 more source

Unexpected perinatal death caused by an occult MTM1 mutation: a case report

Frontiers in Medicine
BackgroundGenetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed.
Man-Man Zhu, Man-Man Zhu, Dong-Mei Li, Dong-Mei Li, Yi-Cheng Wu, Yi-Cheng Wu, Qiang Yao, Qiang Yao, Ming-Rong Qie, Ming-Rong Qie, Wei-Wei Sun, Wei-Wei Sun   +11 more
doaj   +1 more source

Whole exome sequencing summary statistics.

, 2015
Whole exome sequencing summary statistics.
James McKay (89949), Stéphanie Villar (5663407), Luis Alonso Herrera (321623), Catherine Voegele (107245), David Cantú (3172572), Maude Ardin (737092), Jiri Zavadil (10270), Hector Aquiles Maldonado-Martínez (737089), Enrique Bargallo-Rocha (321624), Felipe Vaca-Paniagua (321619), Veronica Fragoso-Ontiveros (5663404), Florence Le Calvez-Kelm (107221), Nathalie Forey (107231), Maxime Vallée (737091), Federico Lasa-Gonsebatt (737090), Magali Olivier (15062), Carlos Pérez-Plasencia (35552), Geoffroy Durand (107242), Rosa María Alvarez-Gomez (321620), Alejandro Mohar (321625)   +19 more
core   +1 more source