Results 211 to 220 of about 1,506,824 (383)

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Affected Siblings with Alzheimer's Disease Had Missense Mutation of Codon 717 in Amyloid Precursor Protein Gene.

, 1992
Katsuya Tanabe, T. Miki, Hirotaka Tanabe, Masanobu Takeda, Keiichi Hosokawa, Hideki Hayashi, S Hashimoto, Tomoko Nishimura, Takehide Ogihara   +8 more
openalex   +2 more sources

A Family with Liddle’s Syndrome Caused by a New Missense Mutation in the β Subunit of the Epithelial Sodium Channel [PDF]

, 1998
Junnosuke Inoue, Taisuke Iwaoka, Hiroshi Tokunaga, Kazufumi Takamune, Shojiro Naomi, Masatake Araki, Kazuo Takahama, Kohei Yamaguchi, Kimio Tomita   +8 more
openalex   +1 more source

Comprehensive assessment of cancer missense mutation clustering in protein structures

Proceedings of the National Academy of Sciences of the United States of America, 2015
A. Kamburov, M. Lawrence, P. Polak, I. Leshchiner, K. Lage, T. Golub, E. Lander, G. Getz   +7 more
semanticscholar   +1 more source

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source

A Missense Mutation in the Gene Results in Total Absence of α3-Fucosylation of Human α1-Acid Glycoprotein [PDF]

, 1996
Els C.M. Brinkman-Van der Linden, Rosella Mollicone, Rafaël Oriol, Göran Larson, Dirk H. van den Eijnden, Willem van Dijk   +5 more
openalex   +1 more source

Emergence of Staphylococcus aureus Resistance to Antimicrobial Peptides Nisin, NZ2114 and Bacitracin Involves Multiple Phenotypic Changes

Animal Research and One Health, EarlyView.
The AMP‐induced mutant Staphylococcus aureus strain nzR showed increased resistance, five gene mutations, and decreased surface anion levels. AMPs affect the NDH‐2 protein encoded by ndh gene inhibiting the growth of S. aureus. The deletion of the ndh gene promotes the development of AMPs resistance.
Lingyu Xiao, Xingyuan Ma, Ping Tian, Lianbin Li, Zafir Muhammad, Xiaokun Wang, Xuemei Xue, Jinhe Xiao, Liangjun Zheng, F. A. El‐Gohary, Xin Zhao, Junning Pu, Huping Xue   +12 more
wiley   +1 more source

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

, 1992
Bernd Schäfer, R W BISHOP, V.J. Kratunis, Stephen Kalinowski, Stephen T. Mosley, K. Michael Gibson, Ryouichi Tanaka   +6 more
openalex   +1 more source

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population [PDF]

, 1996
P. J. Saker, Andrew T. Hattersley, B. Barrow, M S Hammersley, J. McLellan, Y. M. Dennis Lo, R.J. Olds, M. D. G. Gillmer, R R Holman, R. C. Turner   +9 more
openalex   +1 more source

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Journal of Human Genetics, 2015
R. Fukai, Y. Hiraki, H. Yofune, Y. Tsurusaki, M. Nakashima, H. Saitsu, F. Tanaka, N. Miyake, N. Matsumoto   +8 more
semanticscholar   +1 more source