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by Panagiotakaki, Eleni and De Grandis, Elisa and Stagnaro, Michela and Heinzen, Erin L and Fons, Carmen and Sisodiya, Sanjay and De Vries, Boukje and Goubau, Christophe and Weckhuysen, Sarah and Kemlink, David and Scheffer, Ingrid and Lesca, Gaëtan and Rabilloud, Muriel and Klich, Amna and Ramirez-Camacho, Alia and Ulate-Campos, Adriana and Campistol, Jaume and Giannotta, Melania and Moutard, Marie-Laure and Doummar, Diane and Hubsch-Bonneaud, Cecile and Jaffer, Fatima and Cross, Helen and Gurrieri, Fiorella and Tiziano, Danilo and Nevsimalova, Sona and Nicole, Sophie and Neville, Brian and Van Den Maagdenberg, Arn M. J. M and Mikati, Mohamad and Goldstein, David B and Vavassori, Rosaria and Arzimanoglou, Alexis and Bassi, Maria Teresa and Borgatti, Renato and Cernetti, Roberta and Di Rosa, Gabriella and Franchini, Filippo and Gambardella, Antonio and Giacanelli, Manlio and Gobbi, Giuseppe and Granata, Tiziana and Guerrini, Renzo and Incorpora, Gemma and Nardocci, Nardo and Neri, Giovanni and Ragona, Francesca and Santucci, Margherita and Sartori, Stefano and Veneselli, Edvige and Vigevano, Federico and Zucca, Claudio and Aicardi, J and An, I and Arbues, A.S and Arzimanoglou, A and Bahi-Buisson, N and Barthez, M.-A and Billette de Villemeur, T and Bourgeois, M and Bru, M and Chabrol, B and Chaigne, D and Chaunu, M.P and Chaunu, C and Cournelle, A.M and Davoine, C.-S and De St Martin, A and Deny, B and Desguerres, I and Des Portes, V and Doummar, D and Dulac, O and Dusser, A and Gerard, M and Gitiaux, C and Godet Kiesel, I and Gokben, S and Goutieres, F and Guerrin, M.-H and Heron-Longe, B and Hubsch-Bonneaud, C and Hully, M and Husson, M and Husson, Ch and Kaminska, A and Laroche, C and Lazaro, L and Lepine, A and Magy, L and Marchal, C and Michel, J and Milh, M and Motte, J and Moutard, M.L and Napuri, S and Nassogne, M.C and Neau, J.P and Nicole, S and Panagiotakaki, Eleni and ... and IBAHC Consortium and French AHC Consortium and Int AHC Consortium and International AHC Consortium and Italian IBAHC Consortium and The French AHC Consortium and The Italian IBAHC Consortium and The International AHC Consortium
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1, p. 123
Journal Article
PLoS Medicine, ISSN 1549-1277, 12/2016, Volume 13, Issue 12, pp. e1002201 - e1002201
Journal Article
Cancer, ISSN 0008-543X, 07/2017, Volume 123, Issue 14, pp. 2680 - 2687
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2016, Volume 113, Issue 45, pp. 12607 - 12609
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2016, Volume 113, Issue 29, pp. 7932 - 7934
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2018, Volume 115, Issue 17, pp. 4305 - 4307
Journal Article
by George, J and Lim, J.S and Jang, S.J and Cun, Y.P and Ozretic, L and Kong, G and Leenders, F and Lu, X and Fernandez-Cuesta, L and Bosco, G and Muller, C and Dahmen, I and Jahchan, N.S and Park, K.S and Yang, D and Karnezis, A.N and Vaka, D and Torres, A and Wang, M.S and Korbel, J.O and Menon, R and Chun, S.M and Kim, D and Wilkerson, M and Hayes, N and Engelmann, D and Putzer, B and Bos, M and Michels, S and Vlasic, I and Seidel, D and Pinther, B and Schaub, P and Becker, C and Altmuller, J and Yokota, J and Kohno, T and Iwakawa, R and Tsuta, K and Noguchi, M and Muley, T and Hoffmann, H and Schnabel, P.A and Petersen, I and Chen, Y and Soltermann, A and Tischler, V and Choi, C.M and Kim, Y.H and Massion, P.P and Zou, Y and Jovanovic, D and Kontic, M and Wright, G.M and Russell, P.A and Solomon, B and Koch, I and Lindner, M and Muscarella, L.A and la Torre, A and Field, J.K and Jakopovic, M and Knezevic, J and Castanos-Velez, E and Roz, L and Pastorino, U and Brustugun, O.T and Lund-Iversen, M and Thunnissen, E and Kohler, J and Schuler, M and Botling, J and Sandelin, M and Sanchez-Cespedes, M and Salvesen, H.B and Achter, V and Lang, U and Bogus, M and Schneider, P.M and Zander, T and Ansen, S and Hallek, M and Wolf, J and Vingron, M and Yatabe, Y and Travis, W.D and Nurnberg, P and Reinhardt, C and Perner, S and Heukamp, L and Buttner, R and Haas, S.A and Brambilla, E and Peifer, M and Sage, J and Thomas, R.K and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Lungmedicin och allergologi and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature, ISSN 0028-0836, 2015, Volume 524, Issue 7563, pp. 47 - 53
We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the deadliest human cancers. In nearly all the tumours analysed we found bi-allelic... 
NEUROENDOCRINE TUMORS | PATHWAY | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | IN-VIVO | GENES | CYCLE ARREST | NOTCH | C-KIT | MUTATIONS | CARCINOMA | Neurosecretory Systems - pathology | Receptors, Notch - metabolism | Chromosome Breakpoints | Genomics | Humans | Lung Neoplasms - metabolism | Lung Neoplasms - pathology | Male | Receptors, Notch - genetics | Gene Expression Profiling | Tumor Suppressor Protein p53 - genetics | Small Cell Lung Carcinoma - metabolism | Tumor Suppressor Proteins - genetics | Neurosecretory Systems - metabolism | Female | Nuclear Proteins - genetics | Disease Models, Animal | Lung Neoplasms - genetics | Signal Transduction - genetics | Small Cell Lung Carcinoma - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Genome, Human - genetics | Small Cell Lung Carcinoma - pathology | Tumor Protein p73 | Animals | Cyclin D1 - genetics | Retinoblastoma Protein - genetics | Alleles | Cell Line, Tumor | Mice | Gene mutations | Analysis | Exome sequencing | Lung cancer, Small cell | Genetic aspects | Drug therapy | Cancer | Pathogenesis | Lung cancer | Genomes | Mutation | Kinases | Gene expression | Cancer therapies | Tumors | Clinical Medicine | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Cancer and Oncology | Klinisk medicin | Cancer och onkologi
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2014, Volume 164, Issue 4, pp. 934 - 942
Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous... 
RAS/MAPK cascade | Noonan syndrome | Costello syndrome | Noonan‐like syndrome with loose anagen hair | behavior | cardiofaciocutaneous syndrome | LEOPARD syndrome | genotype–phenotype correlation analyses | Cardiofaciocutaneous syndrome | Genotype-phenotype correlation analyses | Behavior | Noonan-like syndrome with loose anagen hair | RAS | CASCADE | AUTISM SPECTRUM DISORDERS | MAPK | SYNAPTIC PLASTICITY | NOONAN-SYNDROME | CHILDREN | FEATURES | INTELLECTUAL DISABILITY | genotype-phenotype correlation analyses | MAPK cascade | SOCIAL COMMUNICATION QUESTIONNAIRE | COSTELLO-SYNDROME | GENETICS & HEREDITY | ras Proteins - genetics | Noonan Syndrome - enzymology | Humans | LEOPARD Syndrome - genetics | Child, Preschool | Male | Developmental Disabilities - genetics | Failure to Thrive - enzymology | Young Adult | Heart Defects, Congenital - genetics | Mental Disorders - genetics | MAP Kinase Signaling System - genetics | Mental Disorders - enzymology | Autistic Disorder - enzymology | Developmental Disabilities - enzymology | Heart Defects, Congenital - enzymology | Facies | Adult | Female | Child | Autistic Disorder - genetics | Failure to Thrive - genetics | Ectodermal Dysplasia - enzymology | Costello Syndrome - enzymology | Mutation - genetics | Noonan Syndrome - genetics | Costello Syndrome - genetics | Adolescent | Ectodermal Dysplasia - genetics | LEOPARD Syndrome - enzymology
Journal Article