نتایج جستجو برای: 1q

تعداد نتایج: 809  

Journal: :Blood 2011
Samuel Quentin Wendy Cuccuini Raphael Ceccaldi Olivier Nibourel Corinne Pondarre Marie-Pierre Pagès Nadia Vasquez Catherine Dubois d'Enghien Jérôme Larghero Régis Peffault de Latour Vanderson Rocha Jean-Hugues Dalle Pascale Schneider Mauricette Michallet Gérard Michel André Baruchel François Sigaux Eliane Gluckman Thierry Leblanc Dominique Stoppa-Lyonnet Claude Preudhomme Gérard Socié Jean Soulier

Fanconi anemia (FA) is a genetic condition associated with bone marrow (BM) failure, myelodysplasia (MDS), and acute myeloid leukemia (AML). We studied 57 FA patients with hypoplastic or aplastic anemia (n = 20), MDS (n = 18), AML (n = 11), or no BM abnormality (n = 8). BM samples were analyzed by karyotype, high-density DNA arrays with respect to paired fibroblasts, and by selected oncogene se...

Journal: :Diabetes 2002
Vidya S Farook Robert L Hanson Johanna K Wolford Clifton Bogardus Michal Prochazka

The KCNJ10 gene is located within a region on chromosome 1q linked to type 2 diabetes in the Pima Indians and six other populations. We therefore investigated this gene as a potential type 2 diabetes candidate gene in Pima Indians. KCNJ10 consists of two exons, spans approximately 33 kb, and we identified eight single-nucleotide polymorphisms (SNPs), including one (SNP2) in the coding region le...

2011
Martin G. McCabe L. Magnus Bäcklund Hui Sun Leong Koichi Ichimura V. Peter Collins

Current risk stratification schemas for medulloblastoma, based on combinations of clinical variables and histotype, fail to accurately identify particularly good- and poor-risk tumors. Attempts have been made to improve discriminatory power by combining clinical variables with cytogenetic data. We report here a pooled analysis of all previous reports of chromosomal copy number related to surviv...

Journal: :Blood 1992
C H Pui A J Carroll S C Raimondi M J Schell D R Head J J Shuster W M Crist M J Borowitz M P Link F G Behm

Cytogenetic analysis of leukemic cells from 2,805 children with newly diagnosed acute lymphoblastic leukemia (ALL) identified 83 cases (3%) that had a stemline with at least one isochromosome. The i(9q) was present in 28 (1%), the i(17q) in 23 (0.8%), and the i(7q) in 23 (0.8%). Other isochromosomes--i(21q), i(6p), i(1q), i(8q), or i(Xq)--were found in only 12 cases (0.4%). The isochromosome ca...

Journal: :Oncology reports 2007
Abbas Agaimy Antje-Friederike Pelz Christopher L Corless Peter H Wünsch Michael C Heinrich Ferdinand Hofstaedter Wolfgang Dietmaier Charles D Blanke Peter Wieacker Albert Roessner Arndt Hartmann Regine Schneider-Stock

Carney triad is a rare non-hereditary condition affecting young females and characterized by metachronous or synchronous occurrence of epithelioid gastrointestinal stromal tumours (GISTs), pulmonary chondroma and extra-adrenal paraganglioma. The genetic alterations in Carney triad-related GISTs have not been well studied. We evaluated GISTs from three females with incomplete Carney triad for KI...

Journal: :Blood 2011
Thorsten Klampfl Ashot Harutyunyan Tiina Berg Bettina Gisslinger Martin Schalling Klaudia Bagienski Damla Olcaydu Francesco Passamonti Elisa Rumi Daniela Pietra Roland Jäger Lisa Pieri Paola Guglielmelli Ilaria Iacobucci Giovanni Martinelli Mario Cazzola Alessandro M Vannucchi Heinz Gisslinger Robert Kralovics

Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are clonal myeloid disorders with increased production of terminally differentiated cells. The disease course is generally chronic, but some patients show disease progression (secondary myelofibrosis or accelerated phase) and/or leukemic transformation. We investigated chromosomal aberrations in 408 MPN samples using high-reso...

Journal: :The Journal of Experimental Medicine 1964
George B. Naff Jack Pensky Irwin H. Lepow

Kinetic and ultracentrifugal experiments demonstrated that the previously described subcomponents of human C'1, designated C'1q, C'1r, and C'1s, interacted with each other in liquid phase to form a macromolecule which was then capable of converting sensitized erythrocytes (EA) to the state EAC'1. The apparent sedimentation constants of C'1q, C'1r, and C'1s and of the macromolecular product of t...

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