Results 211 to 220 of about 64,503 (262)

Derivation and Pluripotency Validation of Six iPSC Lines From Amniotic Fluid Carrying Intermediate α-Thalassemia Genotypes (--^3.7/α^SEA and --^4.2/α^SEA). [PDF]

Stem Cells Int
Chen Q, Jiang X, Xue X, Zhou Y, Huang Y, Sun F, Ma Y.   +6 more
europepmc   +1 more source

Update of germ line RUNX1 variant curation rules: version 3.1. [PDF]

Blood Adv
Hattig Z, Carlelycke TE, Ruiz Martin A, Walker T, Speck NA, Liu P, Wu D, Godley LA.   +7 more
europepmc   +1 more source

Case Report: A rare case of synchronous ovarian mixed germ cell tumor and mast cell leukemia in a pediatric patient. [PDF]

Front Oncol
Liu C, Chu J, Wan Y, Wang H, Yu H, Zhang K, Xie Z, Tu S, Wang N, Yang L.   +9 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

“Embryo-eggshell interaction counteracts chiral bias in early Drosophila morphogenesis”

Serafini G, Setoudeh M, Cuenca MB, Brillard C, Arzt M, Mejstřik P, Haas PA, Tomančák P.   +7 more
europepmc   +1 more source

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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
Hironori Harada, Yoshihiro Hayashi, Yuka Harada   +2 more
exaly   +3 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

Screening for germ‐line mutations in the NF2 Gene

Genes, Chromosomes and Cancer, 1995
AbstractNeurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease that predisposes to the development of tumors of the nervous system, particularly meningiomas and schwannomas. The gene which, when altered, causes NF2, is localized on chromosome 22 and has recently been identified.
Philippe Mérel, Khé Hoang‐Xuan, Marc Sanson, Emilia Bijlsma, Guy Rouleau, Pierre Laurent‐Puig, Stephan Pulst, Michael Baser, Gilbert Lenoir, Jean Marc Sterkers, Jacques Philippon, François Resche, Victor F. Mautner, Georges Fischer, Theo Hulsebos, Alain Aurias, Olivier Delattre, Gilles Thomas   +17 more
openaire   +2 more sources