Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants von Freire, Maria Valeria, Martin, Marie, Thissen, Romain, Van Marcke, Cédric, Segers, Karin, Sépulchre, Edith, Leroi, Natacha, Lété, Céline, Fasquelle, Corinne, Radermacher, Jean, Gokburun, Yeter, Collignon, Joelle, Sacré, Anne, Josse, Claire, Palmeira, Leonor, Bours, Vincent

Volltext

Screening of germline mutations in young Rwandan patients with breast cancers von Uyisenga, Jeanne P., Segers, Karin, Lumaka, Aimé Z., Mugenzi, Pacifique, Fasquelle, Corinne, Boujemila, Bouchra, Josse, Claire, Mutesa, Leon, Bours, Vincent

Volltext

Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, ant... von Charlier, C, Segers, K, Wagenaar, D, Karim, L, Berghmans, S, Jaillon, O, Shay, T, Weissenbach, J, Cockett, N, Gyapay, G, Georges, M

Volltext

Free Sialic Acid Storage Disease Mimicking Cerebral Palsy and Revealed by Blood Smear Examination von Debray, François-Guillaume, MD, PhD, Lefebvre, Caroline, MD, Colinet, Stéphanie, MD, Segers, Karin, PhD, Stevens, René, MD

Volltext

Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms von Mutesa, Léon, Azad, Abul Kalam, Verhaeghe, Catherine, Segers, Karin, Vanbellinghen, Jean-François, Ngendahayo, Louis, Rusingiza, Emmanuel Kamanzi, Mutwa, Philippe Rutwaza, Rulisa, Stephen, Koulischer, Lucien, Cassiman, Jean-Jacques, Cuppens, Harry, Bours, Vincent

Volltext

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases von Boemer, F., Fasquelle, C., d’Otreppe, S., Josse, C., Dideberg, V., Segers, K., Guissard, V., Capraro, V., Debray, FG, Bours, V.

Volltext

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome von Ramaekers, V.Th, Segers, K., Sequeira, J.M., Koenig, M., Van Maldergem, L., Bours, V., Kornak, U., Quadros, E.V.

Volltext

Genetic evaluation of patients with multiple primary cancers von Freire, Maria, Thissen, Romain, Martin, Marie, Fasquelle, Corinne, Helou, Laura, Durkin, Keith, Artesi, Maria, Lumaka, Aimé, Leroi, Natacha, Segers, Karin, Deberg, Michelle, Gatot, Jean-Stéphane, Habran, Lionel, Palmeira, Leonor, Josse, Claire, Bours, Vincent

Volltext

Breast cancer in a male-to-female transsexual patient with a BRCA2 mutation von Corman, Vinciane, Potorac, Iulia, Manto, Florence, Dassy, Sarah, Segers, Karin, Thiry, Albert, Bours, Vincent, Daly, Adrian F, Beckers, Albert

Volltext

A dualistic model of primary anal canal adenocarcinoma with distinct cellular origins, etiologies, inflammatory microenvironments and mutational signatures: implications for person... von Herfs, Michael, Roncarati, Patrick, Koopmansch, Benjamin, Peulen, Olivier, Bruyere, Diane, Lebeau, Alizee, Hendrick, Elodie, Hubert, Pascale, Poncin, Aurelie, Penny, William, Piazzon, Nathalie, Monnien, Franck, Guenat, David, Mougin, Christiane, Prétet, Jean-Luc, Vuitton, Lucine, Segers, Karin, Lambert, Frederic, Bours, Vincent, de Leval, Laurence, Valmary-Degano, Severine, Quick, Charles M, Crum, Christopher P, Delvenne, Philippe

Volltext

BRCA1 germline mutation and glioblastoma development: report of cases von Boukerroucha, Meriem, Josse, Claire, Segers, Karin, El-Guendi, Sonia, Frères, Pierre, Jerusalem, Guy, Bours, Vincent

Volltext

3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry von Boemer, François, Cornet, Yves, Libioulle, Cécile, Segers, Karin, Bours, Vincent, Schoos, Roland

Volltext

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients von Freire, Maria Valeria, Martin, Marie, Segers, Karin, Sepulchre, Edith, Leroi, Natacha, Coupier, Jérôme, Kalantari, Hassan Rezaei, Wolter, Pascal, Collignon, Joëlle, Polus, Marc, Plomteux, Olivier, Josse, Claire, Bours, Vincent

Volltext

Evaluation of BRCA1-related molecular features and microRNAs as prognostic factors for triple negative breast cancers von Boukerroucha, Meriem, Josse, Claire, ElGuendi, Sonia, Boujemla, Bouchra, Frères, Pierre, Marée, Raphaël, Wenric, Stephane, Segers, Karin, Collignon, Joelle, Jerusalem, Guy, Bours, Vincent

Volltext

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia von Pillois, Xavier, Peters, Pierre, Segers, Karin, Nurden, Alan T.

Volltext

Genetic study of triple negative breast cancers von Boukerroucha, M., Josse, C., ElGuendi, S., Freres, P., Marée, R., Wenric, S., Segers, K., Collignon, J., Jerusalem, G., Bours, V.

Volltext

Innovative methodology for the identification of soluble biomarkers in fresh tissues von Costanza, Brunella, Turtoi, Andrei, Bellahcène, Akeila, Hirano, Touko, Peulen, Olivier, Blomme, Arnaud, Hennequière, Vincent, Mutijima, Eugene, Boniver, Jacques, Meuwis, Marie-Alice, Josse, Claire, Koopmansch, Benjamin, Segers, Karin, Yokobori, Takehiko, Fahmy, Karim, Thiry, Marc, Coimbra, Carla, Garbacki, Nancy, Colige, Alain, Baiwir, Dominique, Bours, Vincent, Louis, Edouard, Detry, Olivier, Delvenne, Philippe, Nishiyama, Masahiko, Castronovo, Vincent

Volltext

In silico analysis of structural modifications in and around the integrin α II b genu caused by ITGA 2B variants in human platelets with emphasis on Glanzmann thrombasthenia von Pillois, Xavier, Peters, Pierre, Segers, Karin, Nurden, Alan T.

Volltext

The callipyge mutation and other genes that affect muscle hypertrophy in sheep von COCKETT, Noelle E, SMIT, Maria A, BIDWELL, Christopher A, SEGERS, Karin, HADFIELD, Tracy L, SNOWDER, Gary D, GEORGES, Michel, CHARLIER, Carole

Volltext

The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status von Segers, Karin, Cockett, Noelle, Georges, Michel, Shay, Tracy, Karim, Latifa, Gyapay, Gabor, Charlier, Carole

Volltext