Works by Blouin, Jean

Results: 140
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11

    Resilience in Alzheimer's disease: Impact of operationalization and methodological choices.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2025, v. 21, n. 4, p. 1, doi. 10.1002/alz.70185
    By:
    • Mutel, Sophie;
    • Quatrocchi, Lara;
    • Altomare, Daniele;
    • Chicherio, Christian;
    • Scheffler, Max;
    • Lövblad, Karl‐Olof;
    • Blennow, Kaj;
    • Ashton, Nicholas J.;
    • Zetterberg, Henrik;
    • Abramowicz, Marc;
    • Blouin, Jean‐Louis;
    • Wang, Chen;
    • Wyss‐Dominguez, Carine;
    • Mendes, Augusto J.;
    • Garibotto, Valentina;
    • Frisoni, Giovanni;
    • Ribaldi, Federica
    Publication type:
    Article
    12
    13
    14
    15
    16
    17

    Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 3, p. 329, doi. 10.1111/cge.14004
    By:
    • 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
    Publication type:
    Article
    18

    Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 6, p. 780, doi. 10.1111/cge.13942
    By:
    • 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
    Publication type:
    Article
    19

    Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21.

    Published in:
    Nature Genetics, 1998, v. 20, n. 1, p. 70, doi. 10.1038/1734
    By:
    • Blouin, Jean-Louis;
    • Dombroski, Beth A.;
    • Nath, Swapan K.;
    • Lasseter, Virginia K.;
    • Wolyniec, Paula S.;
    • Nestadt, Gerald;
    • Thornquist, Mary;
    • Ullrich, Gail;
    • McGrath, John;
    • Kasch, Laura;
    • Lamacz, Malgorzata;
    • Thomas, Marion G.;
    • Gehrig, Corinne;
    • Radhakrishna, Uppala;
    • Snyder, Sarah E.;
    • Balk, Katherine G.;
    • Neufeld, Karin;
    • Swartz, Karen L.;
    • DeMarchi, Nicola
    Publication type:
    Article
    20

    DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia.

    Published in:
    Respiration, 2008, v. 76, n. 2, p. 198, doi. 10.1159/000128567
    By:
    • Failly, Mike;
    • Saitta, Alexandra;
    • Muñoz, Analia;
    • Falconnet, Emilie;
    • Rossier, Colette;
    • Santamaria, Francesca;
    • De Santi, Maria Margherita;
    • Lazor, Romain;
    • DeLozier-Blanchet, Celia D.;
    • Bartoloni, Lucia;
    • Blouin, Jean-Louis
    Publication type:
    Article
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32

    Learning to stand with unexpected sensorimotor delays.

    Published in:
    eLife, 2021, p. 1, doi. 10.7554/eLife.65085
    By:
    • Rasman, Brandon G.;
    • Forbes, Patrick A.;
    • Peters, Ryan M.;
    • Ortiz, Oscar;
    • Franks, Ian;
    • Inglis, J. Timothy;
    • Chua, Romeo;
    • Blouin, Jean-Sébastien
    Publication type:
    Article
    33

    A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
    By:
    • de Mollerat, Xavier J.;
    • Gurrieri, Fiorella;
    • Morgan, Chad T.;
    • Sangiorgi, Eugenio;
    • Everman, David B.;
    • Gaspari, Paola;
    • Amiel, Jeanne;
    • Bamshad, Michael J.;
    • Lyle, Robert;
    • Blouin, Jean-Louis;
    • Allanson, Judith E.;
    • Le Marec, Bernard;
    • Wilson, Melba;
    • Braverman, Nancy E.;
    • Radhakrishna, Uppala;
    • Delozier-Blanchet, Celia;
    • Abbott, Albert;
    • Elghouzzi, Vincent;
    • Antonarakis, Stylianos;
    • Stevenson, Roger E.
    Publication type:
    Article
    34

    A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers.

    Published in:
    Alzheimer's Research & Therapy, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13195-023-01218-5
    By:
    • 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.
    Publication type:
    Article
    35
    36
    37
    38

    DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects.

    Published in:
    American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 2, p. 120, doi. 10.1164/rccm.200601-084OC
    By:
    • Hornef, Nada;
    • Olbrich, Heike;
    • Horvath, Judit;
    • Zariwala, Maimoona A.;
    • Fliegauf, Manfred;
    • Loges, Niki Tomas;
    • Wildhaber, Johannes;
    • Noone, Peadar G.;
    • Kennedy, Marcus;
    • Antonarakis, Stylianos E.;
    • Blouin, Jean-Louis;
    • Bartoloni, Lucia;
    • Nüsslein, Thomas;
    • Ahrens, Peter;
    • Griese, Matthias;
    • Kuhl, Heiner;
    • Sudbrak, Ralf;
    • Knowles, Michael R.;
    • Reinhardt, Richard;
    • Omran, Heymut
    Publication type:
    Article
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50

    Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

    Published in:
    Human Mutation, 2008, v. 29, n. 2, p. 289, doi. 10.1002/humu.20656
    By:
    • 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
    Publication type:
    Article