Results 251 to 260 of about 124,431 (304)

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Identification of novel genomic variants in diabetic nephropathy patients using whole-exome sequencing: a pilot investigation. [PDF]

Front Endocrinol (Lausanne)
Mir R, Elfaki I, Almassabi RF, Almowallad S, Elnageeb ME, Mirghani HO, Albalawi W, Albalawi AD, Altemani FH, Barnawi J, Tayeb FJ, Moawadh M, Bedaiwi RI, Alanazi MA.   +13 more
europepmc   +1 more source

Transcriptomic comparative study between canalicular adenoma and HMGA2::WIF1 canalicular‐like pleomorphic adenoma

The Journal of Pathology, EarlyView.
Abstract Canalicular adenoma (CA) is a benign salivary gland tumor predominantly affecting the upper lip and is characterized by monomorphic epithelial cells arranged in branching cords within a loose and vascularized stroma. Unlike pleomorphic adenoma (PA), CA lacks a chondroid matrix and exhibits specific histological features, such as high cuboidal ...
Ziyad Alsugair, Anne Champagnac, Maxime Fieux, Pierre Philouze, Philippe Ceruse, Brice Thamphya, Daniel Pissaloux, Franck Tirode, Nazim Benzerdjeb   +8 more
wiley   +1 more source

Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study. [PDF]

iScience
Suseelan V, Krishna A A, Zawar A, Prabhu PS, Bhatta P, Paliwal A, Mathur P, Medicherla KM, Polipalli SK, Suravajhala P.   +9 more
europepmc   +1 more source

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley, Senan Maher, Christian Espinoza‐Vinces, Kathleen Gorman, Tim Lynch, Richard A. Walsh, Alberto J. Espay, Conor Fearon   +7 more
wiley   +1 more source

Genetic Causes and Ankle Instability in Hypermobile Ehlers-Danlos Syndrome (hEDS): An Integrated Analysis Using Whole-Exome Sequencing and Stress Imaging. [PDF]

J Clin Med
Kim JY, Lee HY, Kim SY, Lee SW, Cho M, Shin JW, Yoon YG, Lee J, Kang YE, Kang DH, Jo SK, Kang C, Kim N, Song JH.   +13 more
europepmc   +1 more source

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Whole exome sequencing the dog

, 2015
Broeckx, Bart, Hitte, Christophe, Coopman, Frank, Verhoeven, Geert, De Keulenaer, Sarah, De Meester, Ellen, Derrien, Thomas, Alfoldi, Jessica, Lindblad-Toh, Kerstin, Bosmans, Tim, Bavegems, Valérie, Gielen, Ingrid, van Bree, Henri, Van Ryssen, Bernadette, Saunders, Jimmy, Van Nieuwerburgh, Filip, Deforce, Dieter   +16 more
openaire   +1 more source

Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Movement Disorders, EarlyView.
Robert Jech, Petra Havránková, Eugenia Tsoma, Lukáš Kunc, Tomáš Krajča, Ján Necpál, Olga Ulmanová, Aleksandra Tomic, Ivana Dzinovic, Irena Rektorová, Marek Baláž, Tereza Serranová, Stanislava Jaselska, Maria Giertlova, Kristina Kulcsarova, Alexandra Lackova, Denisa Harvanova, Miriam Ostrozovicova, Vladimir Han, GenDy Collaborators, Matej Škorvánek, Michael Zech   +21 more
wiley   +1 more source