Results 201 to 210 of about 237,110 (353)

Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series

Diagnostic Cytopathology, EarlyView.
ABSTRACT Telomerase reverse transcriptase promoter (TERTp) mutations are associated with aggressive thyroid cancer and are most frequently found in anaplastic and poorly differentiated thyroid cancer. Pre‐operative thyroid nodule molecular testing can detect TERTp, denoting a high risk of malignancy and possible aggressive clinical features such as ...
Amir Harari, Jennifer Huiras, Yang Chen, Mohammed Alshalalfa, Yangyang Hao, Joshua P. Klopper, Richard T. Kloos, Bianca J. Vazquez   +7 more
wiley   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

Tumor diversity and evolution revealed through RADseq [PDF]

, 2017
Altshuler, Beal, Begum, Blaxter, Bos, Broaddus, Burdett, Butte, Caccamo, Cai, Caldas, Choy, Cresko, Cresko, Cuppen, da Silveira, De, DePristo, Durbin, Felsenstein, Gatenby, Getz, Goldberg, Greaves, Hoekstra, Hohenlohe, Hynes, Iacobuzio-Donahue, Johnson, Johnson, Katzen, Kawakami, Kernytsky, Kramer, Leder, Look, Lupski, Magi, Maley, Martincorena, Mesirov, Miller, Mullins, Nowak, Nowak, Nowak, Nowell, Parmigiani, Pawlik, Polyak, Polyak, Postlethwait, Pyeritz, Quake, Raible, Scholl, Schultz, Somers, Swanton, Townsend, Vogelstein, Weinberg, Weir, Westerfield, Yaeger, Zon, Zon   +66 more
core   +2 more sources

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases [PDF]

Kaalindi Misra, Milena Ślęczkowska, Silvia Santoro, Monique M. Gerrits, Elisabetta Mascia, Margherita Marchi, Erika Salvi, Hubert J.M. Smeets, Janneke G. J. Hoeijmakers, Filippo Martinelli Boneschi, Massimo Filippi, Giuseppe Lauria, Catharina G. Faber, Federica Esposito   +13 more
openalex   +1 more source

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report [PDF]

, 2018
Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham Chafai Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre Dionne‐Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani   +10 more
openalex   +1 more source

Whole‐exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum

, 2022
Marlena S. Fejzo, Kimber MacGibbon, Olivia First, Courtney Quan, Patrick Mullin   +4 more
openalex   +2 more sources

Exom-Komplettanalyse [PDF]

, 2019
openaire   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]

Clin Case Rep
Dababseh BH, Ghnimat AS, AbuHamdiya LW, Atatre MH, Batran A, Suboh MW.   +5 more
europepmc   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source