Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
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
Published in Genes chromosomes & cancer (2022)
Published in Genes chromosomes & cancer (2022)
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Journal Article
Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome
Dalene Skarping, Karin, Arning, Larissa, Petersén, Åsa, Nguyen, Huu Phuc, Gebre-Medhin, Samuel
Published in Scientific reports (21.02.2024)
Published in Scientific reports (21.02.2024)
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Consequences of eliminating adenosine A1 receptors in mice
Fredholm, Bertil B., Halldner, Linda, Johansson, Catarina, Schulte, Gunnar, Lövdahl, Cecilia, Thorén, Peter, Dunwiddie, Thomas V., Masino, Susan A., Poelchen, Wolfgang, Diao, Lihong, Illes, Peter, Zahniser, Nancy R., Valen, Guro, Tokuno, Shinichi, Sommerschild, Hilchen, Giménez-Llort, Lydia, Fernández-Teruel, Alberto, Escorihuela, Rosa M., Wiesenfeld-Hallin, Zsuzsanna, Xu, Xiao-Jun, Hårdemark, Anna, Herlenius, Eric, Pekny, Milos, Gebré-Medhin, Samuel, Brown, Russell, Ollerstam, Anna, Persson, A. Erik G., Skøtt, Ole, Johansson, Björn
Published in Drug development research (01.04.2003)
Published in Drug development research (01.04.2003)
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Conference Proceeding
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations
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.
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
Genetic anticipation in Swedish Lynch syndrome families
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
Published in PLoS genetics (31.10.2017)
Published in PLoS genetics (31.10.2017)
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Journal Article
Amylin Inhibits Bone Resorption While the Calcitonin Receptor Controls Bone Formation in vivo
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
Published in The Journal of cell biology (16.02.2004)
Published in The Journal of cell biology (16.02.2004)
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Journal Article
Delay between Fusion Pore Opening and Peptide Release from Large Dense-Core Vesicles in Neuroendocrine Cells
Barg, Sebastian, Olofsson, Charlotta S., Schriever-Abeln, Jenny, Wendt, Anna, Gebre-Medhin, Samuel, Renström, Erik, Rorsman, Patrik
Published in Neuron (Cambridge, Mass.) (2002)
Published in Neuron (Cambridge, Mass.) (2002)
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Journal Article
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
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
Published in Hereditary cancer in clinical practice (23.10.2018)
Published in Hereditary cancer in clinical practice (23.10.2018)
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Journal Article
PDGF-A Signaling Is a Critical Event in Lung Alveolar Myofibroblast Development and Alveogenesis
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
Published in Cell (1996)
Published in Cell (1996)
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Journal Article
Alveogenesis failure in PDGF-A-deficient mice is coupled to lack of distal spreading of alveolar smooth muscle cell progenitors during lung development
Lindahl, P, Karlsson, L, Hellström, M, Gebre-Medhin, S, Willetts, K, Heath, J K, Betsholtz, C
Published in Development (Cambridge) (01.10.1997)
Published in Development (Cambridge) (01.10.1997)
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Journal Article
Vascular endothelial growth factor-B-deficient mice display an atrial conduction defect
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
Published in Circulation (New York, N.Y.) (17.07.2001)
Published in Circulation (New York, N.Y.) (17.07.2001)
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Journal Article
Increased Insulin Secretion and Glucose Tolerance in Mice Lacking Islet Amyloid Polypeptide (Amylin)
Gebre-Medhin, Samuel, Mulder, Hindrik, Pekny, Milos, Westermark, Gunilla, Törnell, Jan, Westermark, Per, Sundler, Frank, Ahrén, Bo, Betsholtz, Christer
Published in Biochemical and biophysical research communications (18.09.1998)
Published in Biochemical and biophysical research communications (18.09.1998)
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Journal Article
C09 Huntingtin gene CAG repeat size in patients with lynch syndrome
Skarping, Karin Dalene, Petersén, Åsa, Gebre-Medhin, Samuel
Published in Journal of neurology, neurosurgery and psychiatry (12.09.2022)
Published in Journal of neurology, neurosurgery and psychiatry (12.09.2022)
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Journal Article
Targeted disruption of the mouse phospholipase C β3 gene results in early embryonic lethality
Wang, Shu, Gebre-Medhin, Samuel, Betsholtz, Christer, Stålberg, Peter, Zhou, Yinghua, Larsson, Catharina, Weber, Gunther, Feinstein, Ricardo, Öberg, Kjell, Gobl, Anders, Skogseid, Britt
Published in FEBS letters (18.12.1998)
Published in FEBS letters (18.12.1998)
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Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
Olkinuora, Alisa, Nieminen, Taina T., Mårtensson, Emma, Rohlin, Anna, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Gebre-Medhin, Samuel, Nordling, Margareta, Peltomäki, Päivi
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Journal Article
Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort
Bengtsson, Daniel, Joost, Patrick, Aravidis, Christos, Askmalm Stenmark, Marie, Backman, Ann-Sofie, Melin, Beatrice, von Salomé, Jenny, Zagoras, Theofanis, Gebre-Medhin, Samuel, Burman, Pia
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
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Journal Article
Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome
Henriksson, Isabelle, Henriksson, Karin, Ehrencrona, Hans, Gebre-Medhin, Samuel
Published in Journal of community genetics (01.04.2019)
Published in Journal of community genetics (01.04.2019)
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