Results 251 to 260 of about 1,021,105 (352)

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing. [PDF]

Addict Biol
Liu L, Zhang B, Dong Y, Liu LP, Wang JY, Liu J, Zhou GY, Kang CY, Hu X, Cheng C, Zhao N, Lu J, Wang H, Hu J, Wang X.   +14 more
europepmc   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy. [PDF]

Turk J Med Sci
Bekircan-Kurt CE, Arslan D, Güleray N, Erdem-Özdamar S, Balci-Hayta B, Tan E.   +5 more
europepmc   +1 more source

Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas [PDF]

, 2014
Jane Cryan, Sam Haidar, Lori Ramkissoon, Wenya Linda Bi, David Knoff, Nikolaus Schultz, Malak Abedalthagafi, Loreal Brown, Patrick Y. Wen, David A. Reardon, Ian F. Dunn, Rebecca D. Folkerth, Sandro Santagata, Neal I. Lindeman, Azra H. Ligon, Rameen Beroukhim, Jason L. Hornick, Brian M. Alexander, Keith L. Ligon, Shakti Ramkissoon   +19 more
openalex   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. [PDF]

Ann Med
Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M.   +4 more
europepmc   +1 more source

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

, 2015
D.L. Polla, Maria Terezinha Cardoso, Mayara C. B. Silva, Isabela C. C. Cardoso, Cristina Touguinha Neves Medina, Rosenelle Araujo, Camila C. Fernandes, Alessandra Maria Moreira Reis, Rosângela Vieira de Andrade, Rinaldo Wellerson Pereira, Robert Pogue   +10 more
openalex   +2 more sources

Novel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma [PDF]

, 2017
Narjes Forouzanfar, Ancha Baranova, Saman Milanizadeh, Alireza Heravi‐Moussavi, Amir Jebelli, Mohammad Reza Abbaszadegan   +5 more
openalex   +1 more source