Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder
Varvagiannis, K, Hanquinet, S, Billieux, M H, De Luca, R, Rimensberger, P, Lidgren, M, Guipponi, M, Makrythanasis, P, Blouin, J L, Antonarakis, S E, Steinfeld, R, Kern, I, Poretti, A, Fluss, J, Fokstuen, S
Published in Neuropediatrics (01.04.2018)
Published in Neuropediatrics (01.04.2018)
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-González, AM, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galán, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, HG, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
Fokstuen, S, Makrythanasis, P, Hammar, E, Guipponi, M, Ranza, E, Varvagiannis, K, Santoni, F A, Albarca-Aguilera, M, Poleggi, M E, Couchepin, F, Brockmann, C, Mauron, A, Hurst, S A, Moret, C, Gehrig, C, Vannier, A, Bevillard, J, Araud, T, Gimelli, S, Stathaki, E, Paoloni-Giacobino, A, Bottani, A, Sloan-Béna, F, Sizonenko, L D'Amato, Mostafavi, M, Hamamy, H, Nouspikel, T, Blouin, J L, Antonarakis, S E
Published in Human genomics (28.06.2016)
Published in Human genomics (28.06.2016)
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders
Fokstuen, S., Makrythanasis, P., Nikolaev, S., Santoni, F., Robyr, D., Munoz, A., Bevillard, J., Farinelli, L., Iseli, C., Antonarakis, S.E., Blouin, J.-L.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
Makrythanasis, P, Moix, I, Gimelli, S, Fluss, J, Aliferis, K, Antonarakis, SE, Morris, MA, Béna, F, Bottani, A
Published in Clinical genetics (01.08.2010)
Published in Clinical genetics (01.08.2010)
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Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
Tzetis, M, Kaliakatsos, M, Fotoulaki, M, Papatheodorou, A, Doudounakis, S, Tsezou, A, Makrythanasis, P, Kanavakis, E, Nousia-Arvanitakis, S
Published in Clinical genetics (01.05.2007)
Published in Clinical genetics (01.05.2007)
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Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster
Fryssira, H., Makrythanasis, P., Kattamis, A., Stokidis, K., Menten, B., Kosaki, K., Willems, P., Kanavakis, E.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders
Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
Desmyter, L, Ghassibe, M, Revencu, N, Boute, O, Lees, M, Francois, G, Verellen-Dumoulin, C, Sznajer, Y, Moncla, A, Benateau, H, Claes, K, Devriendt, K, Mathieu, M, Van Maldergem, Lionel, Addor, M. C, Drouin-Garraud, V, Mortier, G, Bouma, M, Dieux-Coeslier, A, Genevieve, D, Goldenberg, A, Gozu, A, Makrythanasis, P, McEntagart, U, Sanchez, A, Vilain, C, Vermeer, S, Connell, F, Verheij, J, Manouvrier, S, Pierquin, Geneviève, Odent, S, Holder-Espinasse, M, Vincent-Delorme, C, Gillerot, Y, Vanwijck, R, Bayet, B, Vikkula, M
Published in Molecular syndromology (01.01.2010)
Published in Molecular syndromology (01.01.2010)
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Genetic predisposition in pediatric acute myocarditis: a pilot study
Gourzi, P, Pantou, M P, Vagenakis, G, Tsoutsinos, A, Vatsellas, G, Makrythanasis, P, Rammos, S, Degiannis, D
Published in European heart journal (12.10.2021)
Published in European heart journal (12.10.2021)
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14P Studying tumour heterogeneity of primary non-small cell lung cancer in humans and mice (PDX)
Kanaki, Z., Voutsina, A., Markou, A., Markou, A., Samaras, I., Pateras, I.S., Baliou, E., Patsea, E., Potaris, K., Vahlas, K., Toufektzian, L., Vamvakaris, I., Makrythanasis, P., Georgoulias, V., Kotsakis, A., Klinakis, A.
Published in Journal of thoracic oncology (01.04.2021)
Published in Journal of thoracic oncology (01.04.2021)
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P3987Targeted exome sequencing for mendelian cardiac disorders within the Genome Clinic in Geneva
Fokstuen, S., Guipponi, M., Hammar, E.B., Makrythanasis, P., Meyer, P.H., Beghetti, M., Sekarski, N., Ranza, E., Lidgren, M., Santoni, F.A., Gehrig, C., Nouspikel, T.H., Antonarakis, S.E., Blouin, J.L.
Published in European heart journal (01.08.2017)
Published in European heart journal (01.08.2017)
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
Sailani, M Reza, Makrythanasis, Periklis, Valsesia, Armand, Santoni, Federico A, Deutsch, Samuel, Popadin, Konstantin, Borel, Christelle, Migliavacca, Eugenia, Sharp, Andrew J, Duriaux Sail, Genevieve, Falconnet, Emilie, Rabionet, Kelly, Serra-Juhé, Clara, Vicari, Stefano, Laux, Daniela, Grattau, Yann, Dembour, Guy, Megarbane, Andre, Touraine, Renaud, Stora, Samantha, Kitsiou, Sofia, Fryssira, Helena, Chatzisevastou-Loukidou, Chariklia, Kanavakis, Emmanouel, Merla, Giuseppe, Bonnet, Damien, Pérez-Jurado, Luis A, Estivill, Xavier, Delabar, Jean M, Antonarakis, Stylianos E
Published in Genome research (01.09.2013)
Published in Genome research (01.09.2013)
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Vitamin D-Related Genes, Blood Vitamin D Levels and Colorectal Cancer Risk in Western European Populations
Fedirko, Veronika, Mandle, Hannah B, Zhu, Wanzhe, Hughes, David J, Siddiq, Afshan, Ferrari, Pietro, Romieu, Isabelle, Riboli, Elio, Bueno-de-Mesquita, Bas, van Duijnhoven, Fränzel J B, Siersema, Peter D, Tjønneland, Anne, Olsen, Anja, Perduca, Vittorio, Carbonnel, Franck, Boutron-Ruault, Marie-Christine, Kühn, Tilman, Johnson, Theron, Krasimira, Aleksandrova, Trichopoulou, Antonia, Makrythanasis, Periklis, Thanos, Dimitris, Panico, Salvatore, Krogh, Vittorio, Sacerdote, Carlotta, Skeie, Guri, Weiderpass, Elisabete, Colorado-Yohar, Sandra, Sala, Núria, Barricarte, Aurelio, Sanchez, Maria-Jose, Quirós, Ramón, Amiano, Pilar, Gylling, Björn, Harlid, Sophia, Perez-Cornago, Aurora, Heath, Alicia K, Tsilidis, Konstantinos K, Aune, Dagfinn, Freisling, Heinz, Murphy, Neil, Gunter, Marc J, Jenab, Mazda
Published in Nutrients (01.08.2019)
Published in Nutrients (01.08.2019)
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Coffee and tea consumption during pregnancy and risk of childhood acute myeloid leukemia: A Childhood Leukemia International Consortium (CLIC) study
Karalexi, Maria A., Dessypris, Nick, Clavel, Jacqueline, Metayer, Catherine, Erdmann, Friederike, Orsi, Laurent, Kang, Alice Y., Schüz, Joachim, Bonaventure, Audrey, Greenop, Kathryn R., Milne, Elizabeth, Petridou, Eleni Th
Published in Cancer epidemiology (01.10.2019)
Published in Cancer epidemiology (01.10.2019)
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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016
Srivastava, A. K., Wang, Y., Huang, R., Skinner, C., Thompson, T., Pollard, L., Wood, T., Luo, F., Stevenson, R., Polimanti, R., Gelernter, J., Lin, X., Lim, I. Y., Wu, Y., Teh, A. L., Chen, L., Aris, I. M., Soh, S. E., Tint, M. T., MacIsaac, J. L., Yap, F., Kwek, K., Saw, S. M., Kobor, M. S., Meaney, M. J., Godfrey, K. M., Chong, Y. S., Holbrook, J. D., Lee, Y. S., Gluckman, P. D., Karnani, N., Kapoor, A., Lee, D., Chakravarti, A., Maercker, C., Graf, F., Boutros, M., Stamoulis, G., Santoni, F., Makrythanasis, P., Letourneau, A., Guipponi, M., Panousis, N., Garieri, M., Ribaux, P., Falconnet, E., Borel, C., Antonarakis, S. E., Kumar, S., Curran, J., Blangero, J., Chatterjee, S., Akiyama, J., Auer, D., Berrios, C., Pennacchio, L., Donti, T. R., Cappuccio, G., Miller, M., Atwal, P., Kennedy, A., Cardon, A., Bacino, C., Emrick, L., Hertecant, J., Baumer, F., Porter, B., Bainbridge, M., Bonnen, P., Graham, B., Sutton, R., Sun, Q., Elsea, S., Hu, Z., Wang, P., Zhu, Y., Zhao, J., Xiong, M., Bennett, David A., Hidalgo-Miranda, A., Romero-Cordoba, S., Rodriguez-Cuevas, S., Rebollar-Vega, R., Tagliabue, E., Iorio, M., D’Ippolito, E., Baroni, S., Kaczkowski, B., Tanaka, Y., Kawaji, H., Sandelin, A., Andersson, R., Itoh, M., Lassmann, T., Hayashizaki, Y., Carninci, P., Forrest, A. R. R., Semple, C. A., Rosenthal, E. A., Shirts, B.
Published in Human genomics (26.05.2016)
Published in Human genomics (26.05.2016)
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