J Li, C Yu, Y Tao, Y Yang, Z Hu… - International Journal of …, 2011 - Wiley Online Library ... Though a lot of them have been confirmed to be pathogenic or not disease causing, a great number of them still create a major difficulty or uncertainty in direct genediagnosis and genetic counselling, indicating the necessity to further study the mutations and their pathogenicity. ... Related articles - All 2 versions
C Romei, B Cosci, G Renzini, V Bottici… - Clinical …, 2011 - Wiley Online Library Results We discovered an unsuspected germline RET mutation in 47 of 729 (6·5%) apparently sporadic MTC who were re-classified as hereditary. We found 60 of 146 (41·1%) gene carriers, 35 of whom had biochemical or clinical evidence of MTC. Thirty gene carriers ... Cited by 1 - Related articles - All 3 versions
R Byers, C Orsborne, S Saviozzi, RA Calogero… - 2011 - tara.tcd.ie Abstract Lymphoma classification has changed several times over time as understanding of normal and malignant lymphocyte biology has advanced. This has improved prognostication but there remain large diagnostic groups with diverse outcomes. In an attempt to refine diagnosis ... Cached
G Stevanin, S Hanein, A Boukhris… - EP Patent …, 2011 - freepatentsonline.com ... Title: DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY IDENTIFICATION OF A MUTATION IN THE ZFYVE26 GENE OR PROTEIN. European Patent Application EP2268837 Kind Code: A1. Inventors: Stevanin ... Cached
T Kido, K Yatera, S Noguchi, Y Sakurai… - Chest, 2011 - chestjournal.chestpubs.org Background: Mucosa-associated lymphoid tissue (MALT) lymphoma constitutes approximately 90% of primary pulmonary lymphoma, and the diagnosis of pulmonary MALT lymphoma often requires invasive methods such as surgical lung biopsy. Chromosomal rearrangements ...
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