Results 191 to 200 of about 117,801 (299)

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Author Correction: Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study. [PDF]

Sci Rep, 2023
Kim JH, Park S, Park HS, Park JS, Lee ST, Kim SW, Lee JW, Lee MH, Park SK, Noh WC, Choi DH, Han W, Jung SH.   +12 more
europepmc   +1 more source

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

Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer. [PDF]

Surg Today
Togashi Y, Nagahashi M, Kashima M, Okada C, Kinjo C, Miyazaki A, Ueda M, Tsubamoto H, Sawai H, Miyoshi Y.   +9 more
europepmc   +1 more source

Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer. [PDF]

Diagnostics (Basel), 2022
Germani A, Guadagnolo D, Salvati V, Micolonghi C, Mancini R, Mastromoro G, Sadeghi S, Petrucci S, Pizzuti A, Piane M.   +9 more
europepmc   +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

Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population. [PDF]

Breast Cancer Res
Aguilar D, Garza-Rodríguez ML, Muñiz-Garza CE, Nuñez FA, Villarreal-Garza CM, Vidal-Gutiérrez O, Pérez-Ibave DC, Burciaga-Flores CH.   +7 more
europepmc   +1 more source

Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer. [PDF]

Biomedicines, 2022
Liu Y, Helgadottir HT, Kharaziha P, Choi J, López-Giráldez F, Mane SM, Höiom V, Juhlin CC, Larsson C, Bajalica-Lagercrantz S.   +9 more
europepmc   +1 more source

Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer. [PDF]

BJC Rep
Pederson HJ, Narod SA.
europepmc   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source