Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort von Svensson, Sara, Zagoras, Theofanis, Aravidis, Christos, Askmalm, Marie Stenmark, Björck, Erik, Borg, Åke, Kuchinskaya, Ekaterina, Nilbert, Mef, Nordling, Margareta, Rohlin, Anna, Silander, Gustav, Lagerstedt‐Robinson, Kristina, Gebre‐Medhin, Samuel

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Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome von Dalene Skarping, Karin, Arning, Larissa, Petersén, Åsa, Nguyen, Huu Phuc, Gebre-Medhin, Samuel

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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations von Fergelot, Patricia, Van Belzen, Martine, Van Gils, Julien, Afenjar, Alexandra, Armour, Christine M., Arveiler, Benoit, Beets, Lex, Burglen, Lydie, Busa, Tiffany, Collet, Marie, Deforges, Julie, de Vries, Bert B. A., Dominguez Garrido, Elena, Dorison, Nathalie, Dupont, Juliette, Francannet, Christine, Garciá-Minaúr, Sixto, Gabau Vila, Elisabeth, Gebre-Medhin, Samuel, Gener Querol, Blanca, Geneviève, David, Gérard, Marion, Gervasini, Cristina Giovanna, Goldenberg, Alice, Josifova, Dragana, Lachlan, Katherine, Maas, Saskia, Maranda, Bruno, Moilanen, Jukka S., Nordgren, Ann, Parent, Philippe, Rankin, Julia, Reardon, Willie, Rio, Marlène, Roume, Joëlle, Shaw, Adam, Smigiel, Robert, Sojo, Amaia, Solomon, Benjamin, Stembalska, Agnieszka, Stumpel, Constance, Suarez, Francisco, Terhal, Paulien, Thomas, Simon, Touraine, Renaud, Verloes, Alain, Vincent-Delorme, Catherine, Wincent, Josephine, Peters, Dorien J. M., Bartsch, Oliver, Larizza, Lidia, Lacombe, Didier, Hennekam, Raoul C.

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Genetic anticipation in Swedish Lynch syndrome families von von Salomé, Jenny, Boonstra, Philip S, Karimi, Masoud, Silander, Gustav, Stenmark-Askmalm, Marie, Gebre-Medhin, Samuel, Aravidis, Christos, Nilbert, Mef, Lindblom, Annika, Lagerstedt-Robinson, Kristina

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Amylin Inhibits Bone Resorption While the Calcitonin Receptor Controls Bone Formation in vivo von Dacquin, Romain, Davey, Rachel A., Laplace, Catherine, Levasseur, Régis, Morris, Howard A., Goldring, Steven R., Gebre-Medhin, Samuel, Galson, Deborah L., Zajac, Jeffrey D., Karsenty, Gérard

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Delay between Fusion Pore Opening and Peptide Release from Large Dense-Core Vesicles in Neuroendocrine Cells von Barg, Sebastian, Olofsson, Charlotta S., Schriever-Abeln, Jenny, Wendt, Anna, Gebre-Medhin, Samuel, Renström, Erik, Rorsman, Patrik

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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families von Karimi, Masoud, von Salomé, Jenny, Aravidis, Christos, Silander, Gustav, Askmalm, Marie Stenmark, Henriksson, Isabelle, Gebre-Medhin, Samuel, Frödin, Jan-Erik, Björck, Erik, Lagerstedt-Robinson, Kristina, Lindblom, Annika, Tham, Emma

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Alveogenesis failure in PDGF-A-deficient mice is coupled to lack of distal spreading of alveolar smooth muscle cell progenitors during lung development von Lindahl, P, Karlsson, L, Hellström, M, Gebre-Medhin, S, Willetts, K, Heath, J K, Betsholtz, C

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PDGF-A Signaling Is a Critical Event in Lung Alveolar Myofibroblast Development and Alveogenesis von Boström, Hans, Willetts, Karen, Pekny, Milos, Levéen, Per, Lindahl, Per, Hedstrand, Håkan, Pekna, Marcela, Hellström, Mats, Gebre-Medhin, Samuel, Schalling, Martin, Nilsson, Mia, Kurland, Siri, Törnell, Jan, Heath, John K, Betsholtz, Christer

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Vascular endothelial growth factor-B-deficient mice display an atrial conduction defect von AASE, Karin, VON EULER, Gabriel, ALITALO, Kari, BETSHOLTZ, Christer, ERIKSSON, Ulf, XURI LI, PONTEN, Annica, THOREN, Peter, RENHAI CAO, YIHAI CAO, OLOFSSON, Birgitta, GEBRE-MEDHIN, Samuel, PEKNY, Milos

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Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition von Olkinuora, Alisa, Nieminen, Taina T., Mårtensson, Emma, Rohlin, Anna, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Gebre-Medhin, Samuel, Nordling, Margareta, Peltomäki, Päivi

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Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort von Bengtsson, Daniel, Joost, Patrick, Aravidis, Christos, Askmalm Stenmark, Marie, Backman, Ann-Sofie, Melin, Beatrice, von Salomé, Jenny, Zagoras, Theofanis, Gebre-Medhin, Samuel, Burman, Pia

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Increased Insulin Secretion and Glucose Tolerance in Mice Lacking Islet Amyloid Polypeptide (Amylin) von Gebre-Medhin, Samuel, Mulder, Hindrik, Pekny, Milos, Westermark, Gunilla, Törnell, Jan, Westermark, Per, Sundler, Frank, Ahrén, Bo, Betsholtz, Christer

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Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing von Rohlin, Anna, Rambech, Eva, Kvist, Anders, Törngren, Therese, Eiengård, Frida, Lundstam, Ulf, Zagoras, Theofanis, Gebre-Medhin, Samuel, Borg, Åke, Björk, Jan, Nilbert, Mef, Nordling, Margareta

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Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors von Gebre-Medhin, Samuel, Nord, Karolin H, Möller, Emely, Mandahl, Nils, Magnusson, Linda, Nilsson, Jenny, Jo, Vickie Y, Vult von Steyern, Fredrik, Brosjö, Otte, Larsson, Olle, Domanski, Henryk A, Sciot, Raf, Debiec-Rychter, Maria, Fletcher, Christopher D.M, Mertens, Fredrik

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L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N‐terminal Ig‐like domains von Christaller, W. A. A., Vos, Y., Gebre‐Medhin, S., Hofstra, R. M. W., Schäfer, M. K. E.

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Targeted disruption of the mouse phospholipase C β3 gene results in early embryonic lethality von Wang, Shu, Gebre-Medhin, Samuel, Betsholtz, Christer, Stålberg, Peter, Zhou, Yinghua, Larsson, Catharina, Weber, Gunther, Feinstein, Ricardo, Öberg, Kjell, Gobl, Anders, Skogseid, Britt

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Mice deficient for PDGF B show renal, cardiovascular, and hematological abnormalities von Levéen, P, Pekny, M, Gebre-Medhin, S, Swolin, B, Larsson, E, Betsholtz, C

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Abstract 3473: Comprehensive genetic screening in hereditary colorectal cancer von Rohlin, Anna, Eiengård, Frida, Mårtensson, Emma, Zagoras, Theofanis, Gebre-Medhin, Samuel, Nordling, Margareta

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Expression of non-classical islet hormone-like peptides during the embryonic development of the pancreas von Mulder, Hindrik, Myrsén-Axcrona, Ulrika, Gebre-Medhin, Samuel, Ekblad, Eva, Sundler, Frank

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