Results 141 to 150 of about 239,171 (309)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Perfil clínico-histopatológico dos carcinomas basocelulares no Hospital Universitário Professor Plydoro Ernani de são Thiago. [PDF]

, 2006
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Costa, Marina Amaral
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Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

A rare case of metastatic super giant basal cell carcinoma of the thoracoabdominal wall

JAAD Case Reports
Dong Eun Lee, BMBS, BSc (Hons), Matthew D. Wynne, MBBS, BSc (Hons), MAcadMEd, MRCP UK (Derm), Nicholas J. Collier, BMedSci, BMBS, MSc, MMedSci, MRCP, MD, Lynne A. Jamieson, MB, ChB, BMSc (Hons), Dip RCPath (Dermatopathology), Donna M. Cummins, MB BchBAO (Hons), MRCP UK (Derm), MRCPI, AFHEA   +4 more
doaj   +1 more source

Two male patients with nevoid basal cell carcinoma syndrome from Turkey

The Turkish Journal of Pediatrics, 2001
Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and
C Tümer, N Er, S Balci, A Ataç
doaj  

Basal cell carcinomas in elderly patients treated by cryotherapy

, 2013
Anca Chiriac,1 Doina Mihaila,2 Liliana Foia,3, Caius Solovan4 1Department of Dermatology, Nicolina Medical Center, 2Department of Pathology, St Maria Children's Hospital, 3Surgical Department, Grigore T Popa University of Medicine and Pharmacy, Iaşi,
Chiriac A, Mihaila D, Foia L, Solovan C
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Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Spotlight on vismodegib in the treatment of basal cell carcinoma: an evidence-based review of its place in therapy

, 2017
Zoe Apalla,1 Chrysoula Papageorgiou,1 Aimilios Lallas,1 Elena Sotiriou,1 Elizabeth Lazaridou,1 Efstratios Vakirlis,1 Athanassios Kyrgidis,2 Demetrios Ioannides1 1First Department of Dermatology, Aristotle University, 2Department of Oral and Maxillofacial
Ioannides D, Vakirlis E, Sotiriou E, Papageorgiou C, Lallas A, Apalla Z, Kyrgidis A, Lazaridou E   +7 more
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Review of photodynamic therapy in actinic keratosis and basal cell carcinoma

, 2008
Marica B Ericson1,2, Ann-Marie Wennberg1, Olle Lark&ouml;11Department of Dermatology; 2Department of Physics, G&ouml;teborg University, G&ouml;teborg, SwedenAbstract: The number of non-melanoma skin cancers is increasing worldwide, and so ...
Marica B Ericson, Olle Lark&ouml;, Ann-Marie Wennberg   +2 more
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