Search Results - "PLASSA, F"
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Human De Novo Papillary Renal‐Cell Carcinomas in a Kidney Graft: Evidence of Recipient Origin With Adenoma‐Carcinoma Sequence
Published in American journal of transplantation (01-04-2013)“…Papillary renal‐cell carcinoma (pRCC) is unusual for its occurrence in kidneys with chronic dysfunction, for its frequent multifocality and for its common…”
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Immunohistochemical and molecular analyses of HER2 status in breast cancers are highly concordant and complementary approaches
Published in British journal of cancer (24-05-2011)“…Background: Immunohistochemistry (IHC) and fluorescent in situ hybridisation (FISH) are currently the most commonly used methods to assess HER2 status…”
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Effect of mutated TP53 on response of advanced breast cancers to high-dose chemotherapy
Published in The Lancet (British edition) (14-09-2002)“…TP53 activation by genotoxic drugs can induce apoptosis or cell-cycle arrest. Thus, whether the gene is mutated or wild type could affect the response of a…”
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Multiple molecular mechanisms contribute to radiation sensitivity in mantle cell lymphoma
Published in Oncogene (11-09-2003)“…Mantle cell lymphomas (MCL) are characterized by their aggressive behavior and poor response to chemotherapy regimens. We report here evidence of increased in…”
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Changes in allelic imbalances in locally advanced breast cancers after chemotherapy
Published in British journal of cancer (22-10-2007)“…In advanced breast cancers, TP53 mutation is highly predictive of complete response to high-dose epirubicin/cyclophosphamide chemotherapy. In these tumours…”
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Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online
Published in Human mutation (1998)“…We have designed a study aimed at identifying the genetic mutations responsible for cystic fibrosis (CF) in the population of the United Arab Emirates. The…”
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Stress-induced aberrant splicing of TSG101: association to high tumor grade and p53 status in breast cancers
Published in Oncogene (16-12-1999)“…The TSG101 gene, identified through insertional mutagenesis, is localized in a region that exhibits LOH in human cancers, suggesting that TSG101 might be a…”
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Microdissection of frozen sections
Published in Journal of molecular medicine (Berlin, Germany) (2000)Get full text
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Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes : PGK Créteil and PGK Amiens
Published in Blood (01-08-1994)“…Phosphoglycerate kinase (PGK) deficiency is generally associated with chronic hemolytic anemia, although it can be accompanied by either mental retardation or…”
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Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity
Published in Human genetics (01-12-1995)“…Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. Both parents were…”
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Increased incidence of ERBB2 overexpression and TP53 mutation in inflammatory breast cancer
Published in Oncogene (24-10-2002)“…Inflammatory breast cancer (IBC) is one of the most aggressive forms of breast cancer. We studied the biological characteristics of these tumours by comparing…”
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Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens
Published in Blood (01-08-1994)“…Phosphoglycerate kinase (PGK) deficiency is generally associated with chronic hemolytic anemia, although it can be accompanied by either mental retardation or…”
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Dynamique de progrès et Guide de bonne exécution des analyses de laboratoire
Published in IRBM news (01-03-2008)Get full text
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Allelic Loss Detection in Inflammatory Breast Cancer: Improvement with Laser Microdissection
Published in Laboratory investigation (01-10-2001)“…Solid tumors are composed not only of tumor cells but also of stromal nonneoplastic cells. In whole tumor samples, stromal cells retaining their alleles may…”
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Factor VIII Gene Inversions in Severe Hemophilia A: Results of an International Consortium Study
Published in Blood (15-09-1995)“…Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in…”
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Prenatal diagnosis of haemoglobinopathies by ion exchange HPLC of haemoglobins
Published in Prenatal diagnosis (01-01-1989)“…A new method, the cation exchange HPLC of haemoglobins, has been compared to the classical carboxymethyl cellulose (CMC) chromatography of globin chains for…”
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Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
Published in Genomics (San Diego, Calif.) (01-07-1992)“…The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding…”
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A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms
Published in Human mutation (1992)“…We describe a scanning procedure for the detection of beta-globin gene mutations and the prenatal diagnosis of beta-thalassemias. The method is based on the…”
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