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1. Full Text Molecular determinants of platelet delta storage pool deficiencies: an update
by Masliah‐Planchon, Julien and Darnige, Luc and Bellucci, Sylvia
British journal of haematology, ISSN 0007-1048, 01/2013, Volume 160, Issue 1, pp. 5 - 11
cellular trafficking | Hermansky–Pudlak syndrome | platelet delta storage pool disease | molecular analysis | Chediak–Higachi syndrome | Molecular analysis | Cellular trafficking | Platelet delta storage pool disease | Hermansky-Pudlak syndrome | Chediak-Higachi syndrome | Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Biological and medical sciences | Medical sciences | Tumors | Platelet diseases and coagulopathies | Hermanski-Pudlak Syndrome - blood | Platelet Storage Pool Deficiency - pathology | Hermanski-Pudlak Syndrome - genetics | Animals | Chediak-Higashi Syndrome - blood | Humans | Hermanski-Pudlak Syndrome - pathology | Chediak-Higashi Syndrome - pathology | Platelet Storage Pool Deficiency - blood | Chediak-Higashi Syndrome - genetics | Platelet Storage Pool Deficiency - genetics | Index Medicus
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2. Full Text Biallelic inactivation of REV7 is associated with Fanconi anemia
by Bluteau, Dominique and Masliah-Planchon, Julien and Clairmont, Connor and Rousseau, Alix and Ceccaldi, Raphael and D'Enghien, Catherine Dubois and Bluteau, Olivier and Cuccuini, Wendy and Gachet, Stéphanie and De Latour, Régis Peffault and Leblanc, Thierry and Socié, Gérard and Baruchel, André and Stoppa-Lyonnet, Dominique and D'Andrea, Alan D and Soulier, Jean
The Journal of clinical investigation, ISSN 0021-9738, 09/2016, Volume 126, Issue 9, pp. 3580 - 3584
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Mad2 Proteins - metabolism | Mitosis | Humans | Male | Genetic Complementation Test | Genetic Variation | Female | Fanconi Anemia - genetics | Child | Chromosomal Instability | Chromosome Breakage | Fibroblasts - metabolism | Genetic Predisposition to Disease | Cross-Linking Reagents - chemistry | Gene Silencing | Lentivirus | Mice, Knockout | Phenotype | Animals | Cell Cycle | DNA Repair | Hematopoietic Stem Cells - cytology | Alleles | Mad2 Proteins - genetics | Cell Line, Tumor | Mice | DNA Damage | Mutation | Cohort Studies | Complications and side effects | DNA synthesis | Care and treatment | Genetic aspects | Analysis | Fanconi's anemia | Studies | Chromosomes | Genes | Rodents | DNA damage | Index Medicus | Abridged Index Medicus
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3. Full Text Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing
by Euskirchen, Philipp and Bielle, Franck and Labreche, Karim and Kloosterman, Wigard P and Rosenberg, Shai and Daniau, Mailys and Schmitt, Charlotte and Masliah-Planchon, Julien and Bourdeaut, Franck and Dehais, Caroline and Marie, Yannick and Delattre, Jean-Yves and Idbaih, Ahmed
Acta neuropathologica, ISSN 0001-6322, 11/2017, Volume 134, Issue 5, pp. 691 - 703
Brain tumor | Pathology | Neurosciences | Molecular neuropathology | Epigenomics | Medicine & Public Health | Glioma | Nanopore sequencing | Whole genome sequencing | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Promoter Regions, Genetic | Glioma - diagnosis | Brain Neoplasms - diagnosis | Humans | Brain Neoplasms - pathology | Brain Neoplasms - genetics | Nanopores | DNA Copy Number Variations | Glioma - genetics | DNA Methylation | Epigenomics - methods | Glioma - pathology | Genomics - methods | Epigenetic inheritance | Prognosis | Gene mutations | Gliomas | Brain tumors | Genomics | Genomes | Nucleotide sequencing | Tumor proteins | Methylation | DNA sequencing | Copy number | Decision making | p53 Protein | Brain cancer | Central nervous system | Hybridization | Metastases | DNA microarrays | Precision medicine | Classification | DNA methylation | Mutation | Diagnosis | Tumors | Cancer | Index Medicus | Methods Paper
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4. Full Text SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas
by Le Loarer, Francois and Watson, Sarah and Pierron, Gaelle and De Montpreville, Vincent Thomas and Ballet, Stelly and Firmin, Nelly and Auguste, Aurelie and Pissaloux, Daniel and Boyault, Sandrine and Paindavoine, Sandrine and Dechelotte, Pierre Joseph and Besse, Benjamin and Vignaud, Jean Michel and Brevet, Marie and Fadel, Elie and Richer, Wilfrid and Treilleux, Isabelle and Masliah-Planchon, Julien and Devouassoux-Shisheboran, Mojgan and Zalcman, Gerard and Allory, Yves and Bourdeaut, Franck and Thivolet-Bejui, Francoise and Ranchere-Vince, Dominique and Girard, Nicolas and Lantuejoul, Sylvie and Galateau-Sallé, Francoise and Coindre, Jean Michel and Leary, Alexandra and Delattre, Olivier and Blay, Jean Yves and Tirode, Franck
Nature genetics, ISSN 1061-4036, 09/2015, Volume 47, Issue 10, pp. 1200 - 1205
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thoracic Neoplasms - genetics | Humans | Adult | Transcription, Genetic | Sarcoma - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nuclear Proteins - genetics | DNA Helicases - genetics | Molecular targeted therapy | Oncology, Experimental | Thoracic cancer | Development and progression | Genetic aspects | Research | Genetic transcription | Health aspects | Methods | Cancer | Index Medicus | Life Sciences
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5. Full Text PLK1 inhibition exhibits strong anti-tumoral activity in CCND1-driven breast cancer metastases with acquired palbociclib resistance
by Montaudon, Elodie and Nikitorowicz-Buniak, Joanna and Sourd, Laura and Morisset, Ludivine and El Botty, Rania and Huguet, Lea and Dahmani, Ahmed and Painsec, Pierre and Nemati, Fariba and Vacher, Sophie and Chemlali, Walid and Masliah-Planchon, Julien and Chateau-Joubert, Sophie and Rega, Camilla and Leal, Mariana Ferreira and Simigdala, Nikiana and Pancholi, Sunil and Ribas, Ricardo and Nicolas, Andre and Meseure, Didier and Vincent-Salomon, Anne and Reyes, Cecile and Rapinat, Audrey and Gentien, David and Larcher, Thibaut and Bohec, Mylene and Baulande, Sylvain and Bernard, Virginie and Decaudin, Didier and Coussy, Florence and Le Romancer, Muriel and Dutertre, Guillaume and Tariq, Zakia and Cottu, Paul and Driouch, Keltouma and Bieche, Ivan and Martin, Lesley-Ann and Marangoni, Elisabetta
Nature communications, ISSN 2041-1723, 08/2020, Volume 11, Issue 1, pp. 4053 - 4053
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell proliferation | Polo-like kinase 1 | Anastrozole | Health services | Medical treatment | Xenotransplantation | Breast cancer | Bone tumors | Metastasis | Gene expression | Kinases | Patients | Cyclin-dependent kinase 4 | Gene sequencing | Anticancer properties | Metastases | Xenografts | Polo-like kinase | Tumors | Index Medicus | Life Sciences | Human health and pathology
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6. Full Text RAS-MAPK pathway epigenetic activation in cancer: MiRNAs in action
by Masliah-Planchon, Julien and Garinet, Simon and Pasmant, Eric
Oncotarget, ISSN 1949-2553, 2016, Volume 7, Issue 25, pp. 38892 - 38907
Epigenetics | RAS MAPK pathway | MicroRNAs | Cancer | Oncology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Neoplasms - metabolism | Cell Proliferation | Signal Transduction | Cell Survival | Epigenesis, Genetic | Humans | Carcinogenesis - genetics | Gene Expression Regulation, Neoplastic | ras Proteins - metabolism | MicroRNAs - metabolism | Treatment Outcome | MAP Kinase Signaling System | Animals | Neoplasms - genetics | Cell Transformation, Neoplastic - genetics | Cell Differentiation | Mice | Mutation | Index Medicus
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7. Full Text Fine‐needle aspiration as an alternative to core needle biopsy for tumour molecular profiling in precision oncology: prospective comparative study of next‐generation sequencing in cancer patients included in the SHIVA02 trial
by Dupain, Célia and Masliah‐Planchon, Julien and Gu, Céline and Girard, Elodie and Gestraud, Pierre and Du Rusquec, Pauline and Borcoman, Edith and Bello, Diana and Ricci, Francesco and Hescot, Ségolène and Sablin, Marie‐Paule and Tresca, Patricia and Moura, Alexandre and Loirat, Delphine and Frelaut, Maxime and Vincent‐Salomon, Anne and Lecerf, Charlotte and Callens, Céline and Antonio, Samantha and Franck, Coralie and Mariani, Odette and Bièche, Ivan and Kamal, Maud and Le Tourneau, Christophe and Servois, Vincent
Molecular oncology, ISSN 1574-7891, 01/2021, Volume 15, Issue 1, pp. 104 - 115
SHIVA02 trial | core biopsy | tumour molecular profiling | precision medicine | fine‐needle aspiration | next‐generation sequencing | Life Sciences & Biomedicine | Oncology | Science & Technology | Copy number | Lung cancer | Feasibility studies | Clinical trials | Thyroid gland | Metastasis | Patients | Ultrasonic imaging | Computed tomography | Precision medicine | Biopsy | Quality control | Biomarkers | Mutation | Acetic acid | Deoxyribonucleic acid--DNA | Sampling techniques | Tumors | Index Medicus
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8. Full Text Balanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in Renal Medullary Carcinomas
by Calderaro, Julien and Masliah-Planchon, Julien and Richer, Wilfrid and Maillot, Laetitia and Maille, Pascale and Mansuy, Ludovic and Bastien, Claire and de la Taille, Alexandre and Boussion, Hélène and Charpy, Cécile and Jourdain, Anne and Bléchet, Claire and Pierron, Gaelle and Gentien, David and Choudat, Laurence and Tournigand, Christophe and Delattre, Olivier and Allory, Yves and Bourdeaut, Franck
European urology, ISSN 0302-2838, 2015, Volume 69, Issue 6, pp. 1055 - 1061
Urology | Translocation | Renal medullary carcinoma | SMARCB1 | Sickle cell disease | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Translocation, Genetic | Kidney Neoplasms - genetics | Anemia, Sickle Cell - complications | Humans | Carcinogenesis - genetics | SMARCB1 Protein - genetics | Gene Fusion | Gene Expression Profiling | RNA, Long Noncoding - genetics | Transcription Factors - genetics | Calpain - genetics | DNA-Binding Proteins - genetics | Whole Exome Sequencing | Carcinoma - complications | Sequence Analysis, RNA | Comparative Genomic Hybridization | Adolescent | Adult | Carcinoma - genetics | Kidney Neoplasms - complications | Nuclear Proteins - genetics | Nuclear Receptor Subfamily 1, Group F, Member 1 - genetics | Child | Anemia, Sickle Cell - genetics | Relapse | Chemotherapy | Sickle cell anemia | Genetic aspects | Metastasis | Cancer | Diseases | Analysis | Genetic research | Index Medicus
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9. Full Text SMARCA4‐Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression
by Masliah‐Planchon, Julien and Machet, Marie‐Christine and Fréneaux, Paul and Jourdain, Anne and Mortemousque, Isabelle and Raïs, Khadija Aït and Ballet, Stelly and Jouvet, Anne and Figarella‐Branger, Dominique and Delattre, Olivier and Bourdeaut, Franck
Pediatric blood & cancer, ISSN 1545-5009, 03/2016, Volume 63, Issue 3, pp. 568 - 569
Pediatrics | Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Infratentorial Neoplasms - genetics | Nuclear Proteins - analysis | Humans | Child, Preschool | Teratoma - diagnosis | Transcription Factors - genetics | Rhabdoid Tumor - genetics | DNA Helicases - analysis | Teratoma - genetics | Female | Rhabdoid Tumor - diagnosis | Transcription Factors - analysis | Mutation | Nuclear Proteins - genetics | DNA Helicases - genetics |