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Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family

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 gene diagnosis and genetic
counselling, indicating the necessity to further study the mutations and their pathogenicity. ...
Related articles - All 2 versions

RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant …

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

Impact of gene expression profiling in lymphoma diagnosis and prognosis

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 ...
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DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY IDENTIFICATION OF A MUTATION IN THE ZFYVE26 GENE OR PROTEIN

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

Detection of MALT1 Gene Rearrangements in BALF Cells for the Diagnosis of Pulmonary Mucosa-Associated Lymphoid Tissue Lymphoma

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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