Results 251 to 260 of about 90,557 (301)

Real-world safety and effectiveness of zanubrutinib vs ibrutinib in CLL: the CLL-ZANU2024 Italian cohort. [PDF]

Blood Adv
Martino EA, Pitino A, Vigna E, Pasquale R, Ferrarini I, Moia R, Visentin A, Sanna A, Motta M, Moratti M, Sportoletti P, Chiarenza A, Maggi A, Zammit V, Merli M, Innocenti I, Giordano C, Nocilli L, Postorino M, Stelitano C, Ferrario A, Frustaci AM, Riva M, Pepe S, Ibatici A, Scardino S, Anticoli Borza P, Ballotta L, Mancuso S, Malaspina F, Mele A, Galimberti S, Catania G, Giordano A, Angeletti I, Schiattone L, Pennese E, Miccolis R, Fama A, Giordano G, Califano C, Bruzzese A, Caserta S, Farina G, Bulian P, Loseto G, Pocali B, Innao V, Galieni P, Fraticelli V, Vitale C, Romeo A, Rossi M, Scortechini I, Vozella F, Malandruccolo L, Varettoni M, Morello L, Pietrantuono G, Conte E, Cantelli M, Murru R, Caracciolo D, Derenzini E, Di Martina V, Marasca R, Del Principe MI, Figuera A, Angotzi F, Coscia M, Di Renzo N, Laurenti L, Amodio N, Musto P, Di Raimondo F, Liso A, Tedeschi A, Trentin L, Gaidano G, Mauro FR, Tripepi G, Morabito F, Gattei V, Gentile M.   +83 more
europepmc   +1 more source

The dynamic evolution of panarthropod germ cell specification mechanisms. [PDF]

Development
Kao JA, Rivard EL, Kapoor RR, Extavour CG.   +3 more
europepmc   +1 more source

Prenatal Life is the Predominant Source of Somatic Mosaicism Across Tissues and Aging

Verdin E, Lore S, Koch Z, Ideker T, Schumacher B, Scheibye-Knudsen M.   +5 more
europepmc   +1 more source

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

Proceedings of the National Academy of Sciences of the United States of America, 1991
We detected a germ-line mutation of the p53 gene in a patient with a malignant ependymoma of the posterior fossa. This mutation, which was found at codon 242, resulted in an amino acid substitution in a highly conserved site of exon 7 of the p53 gene ...
Val C Sheffield, L Daneshvar, M S Edwards   +2 more
exaly   +2 more sources

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

Clinical Genetics, 2012
Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
N Patey, Johnny Deladoey
exaly   +2 more sources

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Myeloid neoplasms with germ line RUNX1 mutation

International Journal of Hematology, 2017
Familial platelet disorder with propensity to myeloid malignancies (FPD/AML) is an autosomal dominant disorder characterized by quantitative and/or qualitative platelet defects with a tendency to develop a variety of hematological malignancies. Heterozygous germ line mutations in the RUNX1 gene are responsible genetic events for FPD/AML. Notably, about
Yoshihiro, Hayashi, Yuka, Harada, Gang, Huang, Hironori, Harada   +3 more
openaire   +2 more sources

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Genetics in Medicine, 2018
PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a germ-line PDGFRB p.N666H mutation who responded to the tyrosine kinase inhibitor imatinib by ...
Florence A Arts, Nancy J Mendelsohn, Jean-Baptiste Demoulin   +2 more
exaly   +2 more sources

Germ-line and somatic PTPN11 mutations in human disease

European Journal of Medical Genetics, 2005
Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or differentiation.
Marco, Tartaglia, Bruce D, Gelb
openaire   +2 more sources

Germ line mutations associated with breast cancer susceptibility

European Journal of Cancer, 2001
Laboratory-based research in germ line mutations associated with breast cancer susceptibility is rapidly being integrated into clinical practice with profound implications. A Medline search was performed for all relevant articles published since 1990. Where appropriate, historical articles referenced in those identified were also reviewed.
P T, Iau, R D, Macmillan, R W, Blamey
openaire   +2 more sources

Germ-Line Mutations, Pancreatic Inflammation, and Pancreatic Cancer

Clinical Gastroenterology and Hepatology, 2009
The fundamental problem underlying pancreatic cancer is altered genetics. Rare germ-line mutations lead to familial cancer syndromes that may include pancreatic cancer. But why do some people develop pancreatic cancer while others develop cancer in other organs, or not at all?
David, Whitcomb, Julia, Greer
openaire   +2 more sources