A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome

Autor: Ahmed Bouras, Pierre Naibo, Clémentine Legrand, François Le Marc’hadour, Eric Ruano, Chloé Grand-Masson, Cedrick Lefol, Qing Wang

Publikováno v: Familial cancer.

The PMS2 gene is one of the DNA mismatch repair genes (MMR) implicated in Lynch syndrome (LS). A subset of PMS2 pathogenic variants (PVs) are splice variants mostly affecting canonical GT/AG splicing sequences. However, the majority of the intronic v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a2947df36f38c62e9be2b718e0f506b
https://pubmed.ncbi.nlm.nih.gov/36445599

Contents, Vol. 62, 1992

Autor: Roscoe M. Moore, Marinus H. de Keijzer, Alison MacLeod, Chris E. Kaufman, Shigeaki Muto, Hikaru Koide, A. Oliet, Giorgio Annessi, R. Romero, M. Segasothy, Ronald G. Kaczmarek, P. Ronco, A. Notarbartolo, Sali Caglar, C.M. Barbagallo, Paola Omedè, William E. Nelson, Egidio Lusvarghi, Julie Piper, E. Barrio, Mayer Brezis, Iren B. Kovacs, L. Campanacci, Osman Özcebe, Stanford Hamburger, Gianna Mazzucco, Angela Recker, Shuichi Ishii, Tohru Yamaji, F. Mignon, C. Michel, J.L. Mahe, Neva E. Haites, M.A. Morel, Francesco Paolo Schena, Geoffrey M. Berlyne, Gobi Engler-Blum, J. Cledes, Eduardo H. Garin, Massimo Massaia, Teut Risler, Renate Klauser, J. Forteza, Ko Okumura, Cetin Turgan, Serafettin Kirazli, Giovanna Zambruno, S.R. Stella, Anthony E.G. Raine, Oktay Özdemir, Carlo Feletti, Antonio Amoroso, John Simpson, Kurt Widhalm, M. Bardelli, Freek J. Zijlstra, Monika Pergande, J.C. Bigot, Cristiana Rollino, Samuel N. Heyman, Yasushi Asano, Laurence R.I. Baker, S. Tomé Martínez de Rituerto, Anne Dieny, Beatriz Tucker, E. Vijaykumar, P.H. Ong, Semra Dündar, P. Dosquet, Dario Roccatell, Giuseppe Aimo, Stanley A. McMillan, Giuseppe Piccoli, Nicole Pinel, E. Hernández, Yoshihisa Itoh, J. Goffinet, Tadashi Kawai, Jean-Marc Weinstein, Erich Pohanka, Reinhold Deppisch, Vincenzo Montinaro, Claudia A. Müller, Teruyo Ozaki, Leopoldo Baldrati, A. Baraldi, M.I. Rodriguez, Martina Franz, Gerhard A. Müller, Mark Gruber, Claudia Capponcini, Nick Corontzes, Alan N. Charney, F. Fischetti, L. Furci, R. Carretta, M C Jones, Adalbert Bohle, Klaus Jung, O. Traindl, Josef Kovarik, V.E.R. Melhado, Peggy Hamilton, F. Vran, David A. Power, Fujiro Sendo, A. Vigil, Turgay Arinsoy, Rosanna Coppo, Bruno Watschinger, William Dickey, M.Y. Norazlina, Silvano Battaglio, V. Scafidi, Kyuzi Kamoi, Ryuta Okutani, Jean-Charles Renversez, Helmut Reichel, Daniel Cordonnier, Miyuki Ishibashi, L.G. Bardou, B. Mougenot, Wolfgang Kühn, C. Versolato, Hans Pidlich, Abraham P. Provoost, M. Jamil, S. Raziuddin, D. Sanchez-Guisande, A. Vasile, Ünal Yasavul, Prabir Roy-Chaudhury, A. Galione, Yasuhiko Tomino, Susan Reading, L.A. Moura, P. Gallar, Yutaka Yaguchi, Eberhard Ritz, Gina Mazzola, Kenneth G. Porter, M.-A. Bernard, Simon D. Roger, E.N. Wardle, Dino Docci, M.A. Boim, M.R. Averna, B. Viron, Thomas Kahn, N. Schor, S. Muiesan, Loreto Gesualdo, Elke Stier, D. Novoa, B. Fabris, Elisabetta Rubbiani, Jasmina Markovic-Lipkovski, François Le Marc’hadour, Claire M. Hill, Nurol Arik, Mario Boccadoro

Publikováno v: Nephron. 62:I-VI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c7419d3c4214572d490760991f9908e1
https://doi.org/10.1159/000187083

Subject Index, Vol. 62, 1992

Autor: John Simpson, M. Jamil, William E. Nelson, S. Tomé Martínez de Rituerto, François Le Marc’hadour, L. Campanacci, Osman Özcebe, Gianna Mazzucco, Claire M. Hill, C.M. Barbagallo, A. Galione, Stanley A. McMillan, Yasuhiko Tomino, Stanford Hamburger, Paola Omedè, Rosanna Coppo, Jean-Charles Renversez, Nicole Pinel, Carlo Feletti, Marinus H. de Keijzer, M.Y. Norazlina, Samuel N. Heyman, Mark Gruber, Eduardo H. Garin, J. Cledes, F. Fischetti, E. Vijaykumar, Klaus Jung, Iren B. Kovacs, F. Mignon, O. Traindl, Turgay Arinsoy, Kenneth G. Porter, F. Vran, David A. Power, Tohru Yamaji, Alison MacLeod, Silvano Battaglio, Reinhold Deppisch, Kyuzi Kamoi, J.L. Mahe, Geoffrey M. Berlyne, Hikaru Koide, Mario Boccadoro, Gobi Engler-Blum, B. Mougenot, Cetin Turgan, J. Forteza, Serafettin Kirazli, Wolfgang Kühn, Claudia A. Müller, Chris E. Kaufman, Elisabetta Rubbiani, Erich Pohanka, Jasmina Markovic-Lipkovski, Nick Corontzes, L. Furci, R. Carretta, Peggy M. Hamilton, Anne Dieny, A. Notarbartolo, Sali Caglar, Leopoldo Baldrati, V. Scafidi, Helmut Reichel, Ryuta Okutani, Dario Roccatell, C. Versolato, Josef Kovarik, M. Segasothy, M C Jones, Yoshihisa Itoh, Hans Pidlich, Antonio Amoroso, A. Oliet, Abraham P. Provoost, Martina Franz, Vincenzo Montinaro, A. Vigil, Gina Mazzola, Miyuki Ishibashi, Fujiro Sendo, Kurt Widhalm, M.A. Boim, Simon D. Roger, A. Vasile, Nurol Arik, Prabir Roy-Chaudhury, D. Novoa, Mayer Brezis, Angela Recker, Giorgio Annessi, B. Viron, Thomas Kahn, M. Pergande, Yutaka Yaguchi, Eberhard Ritz, R. Romero, L. R. I. Baker, A. Baraldi, S. Raziuddin, Ko Okumura, N. Schor, Loreto Gesualdo, D. Sanchez-Guisande, Oktay Özdemir, S. Muiesan, M.I. Rodriguez, L.G. Bardou, Alan N. Charney, M.-A. Bernard, E. Hernández, Teruyo Ozaki, Roscoe M. Moore, Gerhard A. Müller, E.N. Wardle, S.R. Stella, Elke Stier, Dino Docci, Adalbert Bohle, M.R. Averna, Shigeaki Muto, Anthony E.G. Raine, B. Fabris, Semra Dündar, J. Goffinet, P. Dosquet, Bruno Watschinger, D. Cordonnier, M. Bardelli, C. Michel, Giovanna Zambruno, Ronald G. Kaczmarek, P.H. Ong, Tadashi Kawai, Jean-Marc Weinstein, J.C. Bigot, Giuseppe Piccoli, M.A. Morel, Francesco Paolo Schena, Yasushi Asano, P. Ronco, Egidio Lusvarghi, E. Barrio, William Dickey, Julie Piper, R. Klauser, Ünal Yasavul, Susan Reading, B. Tucker, L.A. Moura, P. Gallar, Claudia Capponcini, V.E.R. Melhado, Shuichi Ishii, Neva E. Haites, Massimo Massaia, Teut Risler, Freek J. Zijlstra, Cristiana Rollino, Giuseppe Aimo

Publikováno v: Nephron. 62:489-490

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c83e12f3b68f1b80c50ccac40940df8
https://doi.org/10.1159/000187115

Cortical versus medullary thymomas

Autor: François Le Marc'hadour

Publikováno v: Human Pathology. 20:715-716

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::456633580d19ff9bad3bc0648e13bb8f
https://doi.org/10.1016/0046-8177(89)90163-9