Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (37) 37
humans (34) 34
female (19) 19
male (18) 18
cancer (17) 17
mutation (14) 14
adult (12) 12
child (12) 12
mutations (12) 12
genetic aspects (11) 11
child, preschool (10) 10
tumors (10) 10
adolescent (9) 9
expression (9) 9
genetics & heredity (8) 8
life sciences (8) 8
oncology (8) 8
analysis (7) 7
clinical neurology (7) 7
pathology (7) 7
abridged index medicus (6) 6
abstracts (6) 6
animals (6) 6
chemotherapy (6) 6
gene (6) 6
genes (6) 6
hematology (6) 6
middle aged (6) 6
phenotype (6) 6
research (6) 6
transcription factors - genetics (6) 6
aged (5) 5
cell line, tumor (5) 5
gene expression profiling (5) 5
gene mutations (5) 5
genetic predisposition to disease (5) 5
health aspects (5) 5
infant (5) 5
medicine, research & experimental (5) 5
neurofibromatosis 1 - genetics (5) 5
neurosciences (5) 5
pediatrics (5) 5
retrospective studies (5) 5
rhabdoid tumor (5) 5
rhabdoid tumor - genetics (5) 5
young adult (5) 5
[sdv]life sciences [q-bio] (4) 4
biochemistry & molecular biology (4) 4
cell biology (4) 4
development and progression (4) 4
gene expression regulation, neoplastic (4) 4
medulloblastoma (4) 4
rhabdoid tumor - diagnosis (4) 4
smarca4 (4) 4
smarcb1 (4) 4
[ sdv ] life sciences [q-bio] (3) 3
age of onset (3) 3
article (3) 3
brg1 (3) 3
care and treatment (3) 3
central nervous system (3) 3
children (3) 3
chromatin (3) 3
cohort studies (3) 3
dna mutational analysis (3) 3
dna-binding proteins - genetics (3) 3
epigenetic inheritance (3) 3
gene expression (3) 3
genetics (3) 3
genomics (3) 3
genotype (3) 3
germ-line mutation (3) 3
hsnf5/ini1 (3) 3
inactivation (3) 3
magnetic resonance imaging (3) 3
medical genetics (3) 3
medicine & public health (3) 3
mice (3) 3
nerve sheath tumors (3) 3
neuroblastoma (3) 3
neurofibromatosis (3) 3
neurofibromin 1 - genetics (3) 3
nf1 (3) 3
nuclear proteins - genetics (3) 3
pedigree (3) 3
physiological aspects (3) 3
prognosis (3) 3
rhabdoid (3) 3
risk factors (3) 3
signal transduction (3) 3
smarcb1 protein - genetics (3) 3
smarcb1 protein - metabolism (3) 3
surgery (3) 3
abnormalities, multiple - diagnosis (2) 2
abnormalities, multiple - genetics (2) 2
actins - genetics (2) 2
anticardiolipin antibodies (2) 2
antiphospholipid syndrome (2) 2
apoptosis (2) 2
apparently undescribed syndrome (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. 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
Abstract Background Renal medullary carcinoma (RMC) is a rare and highly aggressive neoplasm that most often occurs in the setting of sickle cell trait or... 
Urology | Translocation | Renal medullary carcinoma | SMARCB1 | Sickle cell disease | INACTIVATION | GROWTH | UROLOGY & NEPHROLOGY | MECHANISMS | HSNF5/INI1 | SEQUENCING DATA | CANCER | EXPRESSION | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. 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
Summary Delta storage pool deficiency (δ‐SPD) is a rare heterogeneous group of platelet disorders characterized by a reduction in the number or content of... 
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 | COMPLEX | PROLONGED BLEEDING-TIME | HERMANSKY-PUDLAK-SYNDROME | MRP4 ABCC4 | DENSE GRANULES | MUTATION | NUCLEOTIDE-STORAGE | FLOW-CYTOMETRY | HEMATOLOGY | GRANULE SECRETION | FUNCTION DISORDERS | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. 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
Journal of Clinical Investigation, ISSN 0021-9738, 09/2016, Volume 126, Issue 9, pp. 3580 - 3584
Fanconi anemia (FA) is a recessive genetic disease characterized by congenital abnormalities, chromosome instability, progressive bone marrow failure (BMF),... 
MEDICINE, RESEARCH & EXPERIMENTAL | REPAIR | DEFECTS | DNA-POLYMERASE-ZETA | PATHWAY | ROLES | POL-ZETA | FAILURE | HEMATOPOIETIC STEM | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text SWI SNF Chromatin Remodeling and Human Malignancies
by Masliah-Planchon, Julien and Bièche, Ivan and Guinebretière, Jean-Marc and Bourdeaut, Franck and Delattre, Olivier
Annual Review of Pathology: Mechanisms of Disease, ISSN 1553-4006, 1/2015, Volume 10, Issue 1, pp. 145 - 171
The SWI SNF complexes, initially identified in yeast 20 years ago, are a family of multi-subunit complexes that use the energy of adenosine triphosphate (ATP)... 
nucleosome | remodeling | cancer | transcription | epigenetic | WHOLE-GENOME | TUMOR-SUPPRESSOR GENE | PATHOLOGY | CLEAR-CELL-CARCINOMA | RECURRENT SOMATIC MUTATIONS | IDENTIFIES FREQUENT MUTATION | IMMUNOHISTOCHEMICAL ANALYSIS | EPITHELIOID SARCOMA | RHABDOID TUMOR | NUCLEOSOME MOBILIZATION | INACTIVATING MUTATIONS | Neoplasms - metabolism | Transcription Factors - metabolism | Animals | Chromosomal Proteins, Non-Histone - metabolism | Neoplasms - genetics | Humans | Mutation | Transcription Factors - genetics | Chromatin Assembly and Disassembly - physiology | Chromosomal Proteins, Non-Histone - genetics | Epigenetic inheritance | Chromatin | Gene mutations | Analysis | Development and progression | Genetic aspects | Cancer | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. 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
Molecular classification of cancer has entered clinical routine to inform diagnosis, prognosis, and treatment decisions. At the same time, new tumor entities... 
Brain tumor | Pathology | Neurosciences | Molecular neuropathology | Epigenomics | Medicine & Public Health | Glioma | Nanopore sequencing | Whole genome sequencing | GLIOMAS | CLASSIFICATION | TOOLKIT | SUBGROUPS | PATHOLOGY | CANCER | NEUROSCIENCES | CLINICAL NEUROLOGY | GLIOBLASTOMA | MUTATION | 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 | Classification | DNA methylation | Mutation | Diagnosis | Tumors | Cancer | Methods Paper
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Abstract A29: Balanced translocations disrupting SMARCB1 are hallmark recurrent genetic alterations in renal medullary carcinomas
by Calderaro, Julien and Masliah-Planchon, Julien and Richer, Wilfrid and Planque, Laetitia and Maille, Pascale and Taille, Alexandre de la and Boussion, Helene and Delattre, Olivier and Allory, Yves and Bourdeaut, Franck
Cancer Research, ISSN 0008-5472, 03/2016, Volume 76, Issue 5 Supplement, pp. A29 - A29
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. 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
While investigating cohorts of unclassified sarcomas by RNA sequencing, we identified 19 cases with inactivation of SMARCA4, which encodes an ATPase subunit of... 
RHABDOID TUMORS | LUNG-CANCER | SMALL-CELL-CARCINOMA | CHROMATIN REMODELING FACTOR | BRG1 | MAMMALIAN SWI/SNF COMPLEXES | GENETICS & HEREDITY | TUMOR-SUPPRESSOR GENE | EPITHELIOID SARCOMA | HYPERCALCEMIC TYPE | EXPRESSION | 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 | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text An autocrine ActivinB mechanism drives TGFβ/Activin signaling in Group 3 medulloblastoma
by Morabito, Morgane and Larcher, Magalie and Cavalli, Florence MG and Foray, Chloé and Forget, Antoine and Mirabal‐Ortega, Liliana and Andrianteranagna, Mamy and Druillennec, Sabine and Garancher, Alexandra and Masliah‐Planchon, Julien and Leboucher, Sophie and Debalkew, Abel and Raso, Alessandro and Delattre, Olivier and Puget, Stéphanie and Doz, François and Taylor, Michael D and Ayrault, Olivier and Bourdeaut, Franck and Eychène, Alain and Pouponnot, Celio
EMBO Molecular Medicine, ISSN 1757-4676, 08/2019, Volume 11, Issue 8, pp. e9830 - n/a
Medulloblastoma ( MB ) is a pediatric tumor of the cerebellum divided into four groups. Group 3 is of bad prognosis and remains poorly characterized. While the... 
Smad2 | Smad3 | TGF | activin | medulloblastoma | beta | MEDICINE, RESEARCH & EXPERIMENTAL | STEM-CELLS | MOLECULAR SUBGROUPS | SELF-RENEWAL | CELL-PROLIFERATION | MODEL | BETA | HETEROGENEITY | MYC | SMAD | PROMOTES | TGFbeta | Cerebellum | Deregulation | Transcription factors | Brain cancer | Genes | Glioblastoma | Clinical trials | Radiation therapy | Kinases | Cancer therapies | Signal transduction | Chemotherapy | Medulloblastoma | Medical prognosis | Surgery | Ligands | Photoreceptors | Autocrine signalling | Mutation | Activin | Tumors | Cancer
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights