Results 101 to 110 of about 3,299,410 (331)

Sporadic white sponge nevus caused by a mutation in the keratin 4 gene

Oral and Maxillofacial Surgery Cases, 2020
Herein, we present a sporadic case of white sponge nevus (WSN) on the cheek mucosa in a 27-year-old Japanese man. A definite diagnosis of WSN was obtained using the typical clinical appearance and microscopic features of the lesions.
Harusachi Kanazawa, Akihiro Kita, Nao Ishida, Isao Miyamoto, Atsusi Kasamatsu, Katsuhiro Uzawa   +5 more
doaj  

De novo mutation in the NOTCH3 gene causing CADASIL

Biomolecules & Biomedicine, 2014
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia.
Dragan Stojanov, Danijela Grozdanović, Sladjana Petrović, Daniela Benedeto-Stojanov, Ivan Stefanović, Nebojša Stojanović, Dušica N. Ilić   +6 more
doaj   +1 more source

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour, Luigi M. Romito, Antonio E. Elia, Nico Golfré Andreasi, Roberto Eleopra, Alberto Mazzoni, Fabiana Colucci   +6 more
wiley   +1 more source

Mutation prevalence tables for hereditary cancer derived from multigene panel testing

Human Mutation, 2019
Multigene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by the panel is ...
S. Hart, E. Polley, A. Yussuf, S. Yadav, D. Goldgar, Chunling Hu, H. LaDuca, L. P. Smith, J. Fujimoto, Shuwei Li, F. Couch, Jill S. Dolinsky   +11 more
semanticscholar   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Large-scale structural alteration of brain in epileptic children with SCN1A mutation

NeuroImage: Clinical, 2017
Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy ...
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko   +9 more
doaj  

Jeux de trompe-l’œil dans une cité déchue : La Nouvelle-Orléans de George Washington Cable dans Old Creole Days

E-REA, 2016
Throughout his work, 19th century writer George Washington Cable, who was born in New Orleans, kept describing his native city with a tender and yet ruthless eye, before being almost forced into exile for having sharply turned his pen to a critique of ...
Valérie CROISILLE
doaj   +1 more source

Frequency and characteristics of the V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis

Journal of International Medical Research, 2020
Objective To analyse the frequency and characteristics of the Janus kinase 2 ( JAK2) V617F mutation in patients with cerebral venous sinus thrombosis (CVST) with thrombocytosis.
Qiang Ma
doaj   +1 more source

TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution

Blood Cancer Journal, 2015
The TP53 mutation is frequently detected in acute myeloid leukemia (AML) patients with complex karyotype (CK), but the stability of this mutation during the clinical course remains unclear.
H. Hou, W. Chou, Yuan-Yeh Kuo, Liu Cy, Liang-In Lin, Mei‐Hsuan Tseng, Chiang Yc, Ming‐Chih Liu, Chia‐Wen Liu, Jih-Luh Tang, M. Yao, C. Li, Shang‐Yi Huang, B. Ko, Hsu Sc, Chien-Yuan Chen, Chad Lin, Shang-Ju Wu, W. Tsay, Chen Yc, H. Tien   +20 more
semanticscholar   +1 more source

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing, Imis Dogan, Rena Theda Overbeck, Kathrin Reetz, Sandro Romanzetti   +4 more
wiley   +1 more source