Results 201 to 210 of about 255,701 (284)

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of <i>FLNA</i>. [PDF]

Front Genet
D'Amato I, Ganguzza E, Basilisco G, Strippoli A, Salvi E, Mehmeti E, Chiappori F, Devigili G, Vecchi M, Lauria G, Marchi M.   +10 more
europepmc   +1 more source

Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations. [PDF]

, 2017
Cohn, David E, Goodfellow, Paul J, Kurita, Takeshi, Miranda, Mario A, Mutch, David G, O\u27Hern, Matthew J, Sapp, Caroline E, Serna, Vanida A, Walker, Christopher J   +8 more
core   +1 more source

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high‐grade serous ovarian carcinoma

International Journal of Cancer, EarlyView.
What's New? High‐grade serous ovarian carcinoma is often diagnosed at advanced stages due to non‐specific symptoms and the lack of reliable screening methods. This proof‐of‐concept study introduces a novel TP53 mutation panel using unique molecular identifier‐based next‐generation sequencing for sensitive detection of high‐grade serous ovarian ...
Amanda Olsson Widjaja, Peter Micallef, Maria Lycke, Tobias Österlund, Manuel Luna Santamaría, Julia Hedlund Lindberg, Therese Carlsson, Ulf Gyllensten, Anders Ståhlberg, Benjamin Ulfenborg, Anna Linder, Karin Sundfeldt   +11 more
wiley   +1 more source

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease. [PDF]

Sci Signal
Gauron MC, Prokopenko D, Lee S, Wolfe SA, Hecker J, Willett J, Waqas M, Lordén G, Yang Y, Mayfield JE, Castanho I, Mullin K, Morgan S, Hahn G, Demeo DL, Hide W, Bertram L, Lange C, Newton AC, Tanzi RE.   +19 more
europepmc   +1 more source

Artificial intelligence strategies for predicting kinase inhibitor resistance: A comprehensive review of methods, challenges, and future perspectives

Journal of Intelligent Medicine, EarlyView.
Abstract Kinase inhibitors are essential in targeted cancer therapy, yet resistance often emerges through secondary mutations, activation of compensatory signaling pathways, or drug‐efflux mechanisms. Artificial intelligence (AI) provides a workflow‐based strategy rather than a list of unrelated tools for predicting and addressing kinase‐inhibitor ...
Faris Hassan, Mohanad Ali Deifallah, Alaa Zaghloul, Rania Elgohary   +3 more
wiley   +1 more source

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +1 more source

Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations [PDF]

, 1999
Ståle Ellingsen, Per M. Knappskog, Jaran Apold, Hans Geir Eiken   +3 more
openalex   +1 more source

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [PDF]

, 2018
Fiala, Elise, Willing, Marcia
core   +1 more source