Results 201 to 210 of about 1,217,828 (289)

Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. [PDF]

J Endocrinol Invest, 2017
Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A, Klinefelter ItaliaN Group (KING).   +6 more
europepmc   +1 more source

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience [PDF]

, 2013
Caitlin Mauer, Sara Pirzadeh‐Miller, Linda Robinson, David Euhus   +3 more
openalex   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source

Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization. [PDF]

Genet Med Open
Le C, Tatunay K, Liu W, Lu H, Rodis NA, Nam T, Laurino MY, Dubard-Gault ME.   +7 more
europepmc   +1 more source

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. [PDF]

J Pediatr Endocrinol Metab, 2015
Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.   +7 more
europepmc   +1 more source

Type 2 diabetes mellitus: Clinical aspects of genetics, nutrigenetics, and pharmacogenetics

, 2015
Ametov As, L. L. Kamynina, Z.G. Akhmedova Akhmedova   +2 more
openalex   +1 more source

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2019
Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El‐Gharbawy, Laurie M. Brown, Stephen G. Kahler, Surekha Pendyal, Katalin M. Ross, Laurie A. Tsilianidis, David A. Weinstein, Michael S. Watson   +14 more
openalex   +1 more source

Dual targeting of RET and SRC synergizes in RET fusion‐positive cancer cells

Molecular Oncology, EarlyView.
Despite the strong activity of selective RET tyrosine kinase inhibitors (TKIs), resistance of RET fusion‐positive (RET+) lung cancer and thyroid cancer frequently occurs and is mainly driven by RET‐independent bypass mechanisms. Son et al. show that SRC TKIs significantly inhibit PAK and AKT survival signaling and enhance the efficacy of RET TKIs in ...
Juhyeon Son, Lily L. Remsing Rix, Bin Fang, Eric A. Welsh, Nicole V. Bremer, Valentina Foglizzo, Paola Roa, Nickole Sigcha‐Coello, Yi Liao, Eric B. Haura, Alexander Drilon, John M. Koomen, Emiliano Cocco, Uwe Rix   +13 more
wiley   +1 more source

Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. [PDF]

Curr Opin Pediatr
Kinney A, Dalton SA, McCarrier J, Basel D.   +3 more
europepmc   +1 more source

HID-Genetics: A Federated BIRN-enabled Data Management System for Clinical, Imaging, and Genome-Wide Association Studies

, 2011
Wei Dingying
openalex   +1 more source