Results 201 to 210 of about 23,670 (299)

From polygenic risk to functional genomics: a framework for precision gynecological disease modeling. [PDF]

Nat Commun
Khatun M, Tapanainen JS, Salumets A.
europepmc   +1 more source

Biobanks

, 2009
Elger, Bernice S.
core  

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann, Costin Leu, Lucas Hoffmann, Roland Coras, Katja Kobow, Hajo Hamer, Daniel Delev, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Kerstin Becker, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal   +17 more
wiley   +1 more source

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases. [PDF]

Am J Hum Genet
Lassen FH, Kalantzis G, Eoli A, Hill B, Sonehara K, Namba S, Wade I, Hodgson S, Zhou W, BioBank Japan Project, Genes & Health Research Team, BRaVa Consortium, Neale BM, Karczewski KJ, Okada Y, van Heel DA, Finer S, Lindgren CM, Heyne HO, Martin HC, Palmer DS.   +20 more
europepmc   +1 more source

The gut microbiome and drug‐resistant epilepsy: Microbiome–antiseizure medication interactions and implications for pharmacoresistance

Epilepsia Open, EarlyView.
Abstract Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy and represents a major unmet clinical need. While traditional hypotheses of pharmacoresistance have focused on alterations in drug targets, efflux transporter overexpression, and intrinsic disease severity, the gut microbiome has recently emerged as a ...
Khaled Zammar, Majd A. AbuAlrob, Musab Ali, Simona Lattanzi, Boulenouar Mesraoua   +4 more
wiley   +1 more source

Current situation and future prospect of biobank. [PDF]

Cytojournal
Wang R, Han X, Jin L, Wang Z, Sun H, Zhang Y.   +5 more
europepmc   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

Vietnam biobanking feasibility study: An overview of biobanking landscape, infrastructure, and capacity. [PDF]

AIMS Public Health
Vu H, Cheong IH, Luong JHC, Simeon-Dubach D, Le D, Pham THX, Thanh NT, Dat NQ.   +7 more
europepmc   +1 more source

Tracheal wash culture is not associated with bronchial infection, remodelling or inflammation in horses with asthma

Equine Veterinary Journal, EarlyView.
Abstract Background Antimicrobials are commonly prescribed for the treatment of equine asthma, despite limited evidence supporting their use. Tracheal wash (TW) bacterial culture results are known to influence antimicrobial prescription decisions. Objectives To determine whether a positive TW bacterial culture in horses with asthma is associated with ...
Laurence Leduc, Guillaume St‐Jean, Jean‐Pierre Lavoie   +2 more
wiley   +1 more source