Search Results - "Braekeleer, Marc De"

Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice by Uguen, Arnaud, MD, Guéguen, Paul, MD, Legoupil, Delphine, MD, Bouvier, Stéphanie, Costa, Sebastian, MD, Duigou, Sandrine, Lemasson, Gilles, MD, Ledé, Françoise, MD, Sassolas, Bruno, MD, Talagas, Matthieu, MD, Férec, Claude, MD, PhD, Le Maréchal, Cédric, MD, PhD, De Braekeleer, Marc, MD, PhD, Marcorelles, Pascale, MD, PhD

“…Summary NRAS and BRAF mutational status has become mandatory to treat patients with metastatic melanomas. Mutation-specific immunohistochemistry (IHC) can help…”
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Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature by Perrin, Aurore, M.Sc, Morel, Frédéric, Ph.D, Moy, Ludovic, M.D, Colleu, Daniel, M.D, Amice, Véronique, M.D, De Braekeleer, Marc, M.D., Ph.D

“…Objective To determine the meiotic segregation in large-headed, multiple-tailed spermatozoa. Design Analysis of sperm nuclei by fluorescence in situ…”
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Genetic aspects of monomorphic teratozoospermia: a review by De Braekeleer, Marc, Nguyen, Minh Huong, Morel, Frédéric, Perrin, Aurore

“…Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique…”
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A p16-Ki-67-HMB45 immunohistochemistry scoring system as an ancillary diagnostic tool in the diagnosis of melanoma by Uguen, Arnaud, Talagas, Matthieu, Costa, Sebastian, Duigou, Sandrine, Bouvier, Stéphanie, De Braekeleer, Marc, Marcorelles, Pascale

“…Melanoma is a skin cancer which treatment requires early diagnosis and large surgical removal. The histopathological diagnosis of a melanocytic tumour is…”
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ALK -rearranged squamous cell lung carcinoma responding to crizotinib: A missing link in the field of non-small cell lung cancer? by Vergne, Florence, Quéré, Gilles, Andrieu-Key, Sophie, Descourt, Renaud, Quintin-Roué, Isabelle, Talagas, Matthieu, De Braekeleer, Marc, Marcorelles, Pascale, Uguen, Arnaud

“…Highlights • We report a rare case of ALK -rearranged lung squamous cell carcinoma with response to crizotinib therapy. • We highlight the challenges in the…”
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ABL1 fusion genes in hematological malignancies: a review by De Braekeleer, Etienne, Douet-Guilbert, Nathalie, Rowe, David, Bown, Nick, Morel, Frédéric, Berthou, Christian, Férec, Claude, De Braekeleer, Marc

“…Chromosomal rearrangements involving the ABL1 gene, leading to a BCR‐ABL1 fusion gene, have been mainly associated with chronic myeloid leukemia and B‐cell…”
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Hox gene dysregulation in acute myeloid leukemia by De Braekeleer, Etienne, Douet-Guilbert, Nathalie, Basinko, Audrey, Le Bris, Marie-Josée, Morel, Frédéric, De Braekeleer, Marc

“…In humans, class I homeobox genes (HOX genes) are distributed in four clusters. Upstream regulators include transcriptional activators and members of the CDX…”
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Immunostaining of phospho-histone H3 and Ki-67 improves reproducibility of recurrence risk assessment of gastrointestinal stromal tumors by Uguen, Arnaud, Conq, Gwenaël, Doucet, Laurent, Talagas, Matthieu, Costa, Sebastian, De Braekeleer, Marc, Marcorelles, Pascale

“…Gastrointestinal stromal tumors (GISTs) are the most common non-epithelial tumors in the digestive tract. Beyond surgery, therapeutic management depends on…”
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ALK ambiguous-positive non-small cell lung cancers are tumors challenged by diagnostic and therapeutic issues by Uguen, Arnaud, Andrieu-Key, Sophie, Vergne, Florence, Descourt, Renaud, Quéré, Gilles, Quintin-Roué, Isabelle, Key, Stéphane, Guéguen, Paul, Talagas, Matthieu, De Braekeleer, Marc, Marcorelles, Pascale

“…Searching for ALK rearrangements using the approved fluorescent in situ hybridization (FISH) test and complementary immunohistochemistry (IHC) has become the…”
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DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality by Perrin, Aurore, M.Sc, Caer, Emilie, M.D, Oliver-Bonet, Maria, M.D, Navarro, Joaquima, M.D, Benet, Jordi, M.D, Amice, Véronique, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D

“…Objective To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality. Design Case series…”
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Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France) by De Braekeleer, Marc, Rault, Gilles, Bellis, Gil

“…Cystic fibrosis (CF) has an incidence of one in 2,636 livebirths and a carrier rate of one in 26 inhabitants in Brittany. One objective of a major enquiry…”
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MLL partner genes in secondary acute lymphoblastic leukemia: Report of a new partner PRRC1 and review of the literature by Douet-Guilbert, Nathalie, Eveillard, Jean-Richard, Meyer, Claus, Ugo, Valérie, Le Bris, Marie-Josée, Basinko, Audrey, Morel, Frédéric, Marschalek, Rolf, De Braekeleer, Marc

“…Highlights • We report a 72-year-old female patient with secondary acute lymphoblastic leukemia (sALL) following chemotherapy. • Cytogenetic analysis showed a…”
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Gain of the short arm of chromosome 2 (2p) is a frequent recurring chromosome aberration in untreated chronic lymphocytic leukemia (CLL) at advanced stages by Chapiro, Elise, Leporrier, Nathalie, Radford-Weiss, Isabelle, Bastard, Christian, Mossafa, Hossein, Leroux, Dominique, Tigaud, Isabelle, De Braekeleer, Marc, Terré, Christine, Brizard, Françoise, Callet-Bauchu, Evelyne, Struski, Stéphanie, Veronese, Lauren, Fert-Ferrer, Sandra, Taviaux, Sylvie, Lesty, Claude, Davi, Frédéric, Merle-Béral, Hélène, Bernard, Olivier A, Sutton, Laurent, Raynaud, Sophie D, Nguyen-Khac, Florence

“…Abstract Using array-based CGH, we identified 2p gain in 22/78 (28%) untreated Binet stages B/C CLL, which was the second most frequent copy number change…”
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Translocation t(2;7)(p11;q21) associated with the CDK6/IGK rearrangement is a rare but recurrent abnormality in B-cell lymphoproliferative malignancies by Douet-Guilbert, Nathalie, Tous, Corinne, Le Flahec, Glen, Bovo, Clément, Le Bris, Marie-Josée, Basinko, Audrey, Morel, Frédéric, De Braekeleer, Marc

“…Structural abnormalities of chromosome 7q have been regularly reported in chronic B-cell lymphoproliferative disorders. They include chromosomal translocations…”
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Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8 by Caer, Emilie, Pharm, Perrin, Aurore, M.Sc, Douet-Guilbert, Nathalie, M.D, Amice, Véronique, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D

“…Objective To determine the meiotic segregation of a pericentric inversion of chromosome 8 in three carriers. Design Analysis of sperm nuclei by fluorescence in…”
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Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions by Douet-Guilbert, Nathalie, Basinko, Audrey, Morel, Frédéric, Le Bris, Marie-Josée, Ugo, Valérie, Morice, Patrick, Berthou, Christian, De Braekeleer, Marc

“…Deletion of the long arm of chromosome 20 is a recurrent abnormality observed in myelodysplastic syndromes (MDS) and in Philadelphia-chromosome-negative…”
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ROS1 fusions in cancer: a review by Uguen, Arnaud, De Braekeleer, Marc

“…The ROS1 gene belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. A literature review identified a ROS1 fusion in 2.54% of the…”
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Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage by Perrin, Aurore, Ph.D, Delobel, Bruno, M.D, Andrieux, Joris, M.D., Ph.D, Gosset, Philippe, M.D, Gueganic, Nadia, B.Sc, Petit, Florence, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D

“…Objective To characterize a t(2;6) by array-based comparative genomic hybridization (array-CGH) in a couple with recurrent miscarriage, to analyze the meiotic…”
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Redefining monosomy 5 by molecular cytogenetics in 23 patients with MDS/AML by Herry, Angèle, Douet-Guilbert, Nathalie, Morel, Frédéric, Bris, Marie-Josée Le, Braekeleer, Marc De

“…Deletion of the long arm of chromosome 5 [del(5q)] or loss of a whole chromosome 5 (−5) is a common finding, arising de novo in 10% of patients with…”
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RUNX1 Translocations in Malignant Hemopathies by DE BRAEKELEER, Etienne, FEREC, Claude, DE BRAEKELEER, Marc

“…The RUNX gene family includes three evolutionarily conserved genes (RUNX1, RUNX2 and RUNX3) encoding transcription factors involved in cell lineage…”
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