Results 241 to 250 of about 1,506,824 (383)

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene [PDF]

, 1997
Maurice A. M. Van Steensel, Pieter Buma, M.C. de Waal Malefijt, F.H.J. van den Hoogen, Han G. Brunner   +4 more
openalex   +1 more source

A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors

Nature Genetics, 2014
I. Petrini, P. Meltzer, In-Kyu Kim, M. Lucchi, K. Park, G. Fontanini, James Gao, P. Zucali, F. Calabrese, A. Favaretto, F. Rea, J. Rodriguez-Canales, R. Walker, M. Pineda, Y. Zhu, C. Lau, K. Killian, S. Bilke, D. Voeller, S. Dakshanamurthy, Yi-Song Wang, G. Giaccone   +21 more
semanticscholar   +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

Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families. [PDF]

Ann Hematol
Amri Y, Fredj SH, Dabboubi R, Othmani R, Sahli C, Baccouche I, Ouali F, Messaoud T.   +7 more
europepmc   +1 more source

Addition of a Missense Mutation Present in the L Gene of Respiratory Syncytial Virus (RSV)cpts530/1030 to RSV Vaccine Candidatecpts248/404 Increases Its Attenuation and Temperature Sensitivity [PDF]

, 1999
Stephen S. Whitehead, Cai-Yen Firestone, Ruth A. Karron, James E. Crowe, William R. Elkins, Peter L. Collins, Brian R. Murphy   +6 more
openalex   +1 more source

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +1 more source

A de novo missense mutation of human cardiac Na⁺ channel exhibiting novel molecular mechanisms of long QT syndrome [PDF]

, 1998
Naomasa Makita, Nobumasa Shirai, Masato Nagashima, Rumiko Matsuoka, Yoichi Yamada, Noritsugu Tohse, Akira Kitabatake   +6 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

<i>PROS1</i> (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report. [PDF]

Front Cardiovasc Med
Huang J, Zhang Y, Yu H, Liu W.
europepmc   +1 more source

Editorial: Structural understanding of the functional consequences of missense mutation. [PDF]

Front Genet, 2023
Tian J, McFarland CD, Woodard J.
europepmc   +1 more source