Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage
Fokstuen, Siv, Quteineh, Lina, Schwitzgebel, Valérie M., Köhler‐Ballan, Bettina, Blouin, Jean‐Louis, Abramowicz, Marc, Nouspikel, Thierry
Published in Clinical genetics (01.11.2023)
Published in Clinical genetics (01.11.2023)
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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients
Laurent, Sacha, Gehrig, Corinne, Nouspikel, Thierry, Amr, Sami S., Oza, Andrea, Murphy, Elissa, Vannier, Anne, Béna, Frédérique Sloan, Carminho‐Rodrigues, Maria Teresa, Blouin, Jean‐Louis, Cao Van, Hélène, Abramowicz, Marc, Paoloni‐Giacobino, Ariane, Guipponi, Michel
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations
Nouspikel, Thierry, Blouin, Jean‐Louis, Puder, Jardena J, Köhler Ballan, Bettina, Schwitzgebel, Valerie M
Published in Journal of diabetes investigation (01.02.2022)
Published in Journal of diabetes investigation (01.02.2022)
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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes
Stekelenburg, Caroline, Gerster, Karine, Blouin, Jean‐Louis, Lang‐Muritano, Mariarosaria, Guipponi, Michel, Santoni, Federico, Schwitzgebel, Valerie M.
Published in Pediatric diabetes (01.05.2019)
Published in Pediatric diabetes (01.05.2019)
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A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers
Marizzoni, Moira, Mirabelli, Peppino, Mombelli, Elisa, Coppola, Luigi, Festari, Cristina, Lopizzo, Nicola, Luongo, Delia, Mazzelli, Monica, Naviglio, Daniele, Blouin, Jean-Louis, Abramowicz, Marc, Salvatore, Marco, Pievani, Michela, Cattaneo, Annamaria, Frisoni, Giovanni B
Published in Alzheimer's research & therapy (31.05.2023)
Published in Alzheimer's research & therapy (31.05.2023)
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Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene
Atallah, Isis, Quinodoz, Mathieu, Campos‐Xavier, Belinda, Peter, Virginie G., Fouriki, Athina, Bonvin, Christophe, Bottani, Armand, Kumps, Camille, Angelini, Federica, Bellutti Enders, Felicitas, Christen‐Zaech, Stéphanie, Rizzi, Mattia, Renella, Raffaele, Beck‐Popovic, Maja, Poloni, Claudia, Frossard, Valérie, Blouin, Jean‐Louis, Rivolta, Carlo, Riccio, Orbicia, Candotti, Fabio, Hofer, Michael, Unger, Sheila, Superti‐Furga, Andrea
Published in Clinical genetics (01.06.2021)
Published in Clinical genetics (01.06.2021)
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Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis
Marconi, Caterina, Lemmens, Laure, Masclaux, Frédéric, Mattioli, Francesca, Fluss, Joël, Extermann, Philippe, Mendez, Purificacion, Leuchter, Russia Ha‐Vinh, Stathaki, Elissavet, Laurent, Sacha, Hammar, Eva, Vannier, Anne, Varvagiannis, Konstantinos, Guipponi, Michel, Sloan‐Bena, Frédérique, Blouin, Jean‐Louis, Abramowicz, Marc, Fokstuen, Siv
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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Journal Article
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity
Stekelenburg, Caroline, Blouin, Jean-Louis, Santoni, Federico, Zaghloul, Norann, O’Hare, Elisabeth A., Dusaulcy, Rodolphe, Maechler, Pierre, Schwitzgebel, Valerie M.
Published in Scientific reports (15.08.2022)
Published in Scientific reports (15.08.2022)
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Journal Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
Schwabe, Georg C, Hoffmann, Katrin, Loges, Niki Tomas, Birker, Daniel, Rossier, Colette, de Santi, Margherita M, Olbrich, Heike, Fliegauf, Manfred, Failly, Mike, Liebers, Uta, Collura, Mirella, Gaedicke, Gerhard, Mundlos, Stefan, Wahn, Ulrich, Blouin, Jean-Louis, Niggemann, Bodo, Omran, Heymut, Antonarakis, Stylianos E, Bartoloni, Lucia
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours
Andrianova, Maria A, Chetan, Ghati Kasturirangan, Sibin, Madathan Kandi, Mckee, Thomas, Merkler, Doron, Narasinga, Rao KVL, Ribaux, Pascale, Blouin, Jean‐Louis, Makrythanasis, Periklis, Seplyarskiy, Vladimir B, Antonarakis, Stylianos E, Nikolaev, Sergey I
Published in The Journal of pathology (01.11.2017)
Published in The Journal of pathology (01.11.2017)
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Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant
Zgheib, Omar, Chamchoy, Kamonwan, Nouspikel, Thierry, Blouin, Jean-Louis, Cimasoni, Laurent, Quteineh, Lina, Boonyuen, Usa
Published in Communications biology (09.12.2023)
Published in Communications biology (09.12.2023)
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Journal Article
Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection
Schwitzgebel, Valérie M, Blouin, Jean-Louis, Dehos, Barbara, Köhler-Ballan, Bettina, Puder, Jardena J, Rieubland, Claudine, Triantafyllidou, Maria, Zanchi, Anne, Abramowicz, Marc, Nouspikel, Thierry
Published in Frontiers in medicine (30.04.2024)
Published in Frontiers in medicine (30.04.2024)
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Journal Article
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother
Lambert, Nelle, Dauve, Corinne, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico, Sloan-Béna, Frédérique, Gimelli, Stefania, Blouin, Jean-Louis, Guipponi, Michel, Bottani, Armand, Antonarakis, Stylianos E, Kosel, Markus M, Fluss, Joel, Paoloni-Giacobino, Ariane
Published in Journal of human genetics (01.07.2018)
Published in Journal of human genetics (01.07.2018)
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Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD
Lucas, Jane S., Adam, Elizabeth C., Goggin, Patricia M., Jackson, Claire L., Powles-Glover, Nicola, Patel, Saloni H, Humphreys, James, Fray, Martin D., Falconnet, Emilie, Blouin, Jean-Louis, Cheeseman, Michael T., Bartoloni, Lucia, Norris, Dominic P., Lackie, Peter M.
Published in Human mutation (01.03.2012)
Published in Human mutation (01.03.2012)
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DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
Fokstuen, Siv, Lyle, Robert, Munoz, Analia, Gehrig, Corinne, Lerch, René, Perrot, Andreas, Osterziel, Karl Josef, Geier, Christian, Beghetti, Maurice, Mach, François, Sztajzel, Juan, Sigwart, Ulrich, Antonarakis, Stylianos E, Blouin, Jean-Louis
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Journal Article
Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia
Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Eddie M. K. Chung, Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
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