Found: 14

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  • Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

    Published in:
    Pediatric & Developmental Pathology, 2019, v. 22, n. 2, p. 146, doi. 10.1177/1093526618799293
    By:
    • Tessier, Aude;
    • Callier, Patrick;
    • LeMeur, Nathalie;
    • Frebourg, Thierry;
    • Sabourin, Jean-Christophe;
    • Patrier, Sophie
    Publication type:
    Article

  • Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.

    Published in:
    Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 3, p. 539, doi. 10.1007/s00428-023-03715-2
    By:
    • Bartosch, Carla;
    • Nadal, Alfons;
    • Braga, Ana C.;
    • Salerno, Angela;
    • Rougemont, Anne‑Laure;
    • Van Rompuy, Anne‑Sophie;
    • Fitzgerald, Brendan;
    • Joyce, Caroline;
    • Allias, Fabienne;
    • Maher, Geoffrey J.;
    • Turowski, Gitta;
    • Tille, Jean‑Christophe;
    • Alsibai, Kinan Drak;
    • Van de Vijver, Koen;
    • McMahon, Lesley;
    • Sunde, Lone;
    • Pyzlak, Michal;
    • Downey, Paul;
    • Wessman, Sandra;
    • Patrier, Sophie
    Publication type:
    Article

  • Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.

    Published in:
    Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 3, p. 401, doi. 10.1007/s00428-023-03658-8
    By:
    • Bartosch, Carla;
    • Nadal, Alfons;
    • Braga, Ana C.;
    • Salerno, Angela;
    • Rougemont, Anne-Laure;
    • Van Rompuy, Anne-Sophie;
    • Fitzgerald, Brendan;
    • Joyce, Caroline;
    • Allias, Fabienne;
    • Maher, Geoffrey J.;
    • Turowski, Gitta;
    • Tille, Jean-Christophe;
    • Alsibai, Kinan Drak;
    • Van de Vijver, Koen;
    • McMahon, Lesley;
    • Sunde, Lone;
    • Pyzlak, Michal;
    • Downey, Paul;
    • Wessman, Sandra;
    • Patrier, Sophie
    Publication type:
    Article

  • KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
    By:
    • Putoux, Audrey;
    • Thomas, Sophie;
    • Coene, Karlien L. M.;
    • Davis, Erica E.;
    • Alanay, Yasemin;
    • Ogur, Gönül;
    • Uz, Elif;
    • Buzas, Daniela;
    • Gomes, Céline;
    • Patrier, Sophie;
    • Bennett, Christopher L.;
    • Elkhartoufi, Nadia;
    • Frison, Marie-Hélène Saint;
    • Rigonnot, Luc;
    • Joyé, Nicole;
    • Pruvost, Solenn;
    • Utine, Gulen Eda;
    • Boduroglu, Koray;
    • Nitschke, Patrick;
    • Fertitta, Laura
    Publication type:
    Article

  • Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

    Published in:
    Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
    By:
    • Saugier-Veber, Pascale;
    • Marguet, Florent;
    • Lecoquierre, François;
    • Adle-Biassette, Homa;
    • Guimiot, Fabien;
    • Cipriani, Sara;
    • Patrier, Sophie;
    • Brasseur-Daudruy, Marie;
    • Goldenberg, Alice;
    • Layet, Valérie;
    • Capri, Yline;
    • Gérard, Marion;
    • Frébourg, Thierry;
    • Laquerrière, Annie
    Publication type:
    Article

  • The human placenta as a model for training and research in mechanical thrombectomy: Clarifications and use of the chorionic plate veins.

    Published in:
    Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.925763
    By:
    • Burel, Julien;
    • Cornacchini, Jonathan;
    • Garnier, Matthieu;
    • Patrier, Sophie;
    • Guigné, Albane;
    • Gerardin, Emmanuel;
    • Papagiannaki, Chrysanthi;
    • Sourour, Nader;
    • Shotar, Eimad;
    • Premat, Kévin;
    • Laporte, Claire;
    • Clarençon, Frédéric
    Publication type:
    Article

  • Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 3, p. 261, doi. 10.1111/cge.13801
    By:
    • Billon, Clarisse;
    • Molin, Arnaud;
    • Poirsier, Céline;
    • Clemenson, Alix;
    • Dauge, Coralie;
    • Grelet, Maude;
    • Sigaudy, Sabine;
    • Patrier, Sophie;
    • Goldenberg, Alice;
    • Layet, Valérie;
    • Tantau, Julia;
    • Fleury, Clémence;
    • Liard, Agnès;
    • Diguet, Alain;
    • Fritih, Radia;
    • Verspyck, Eric;
    • Rendu, John;
    • Boutaud, Lucile;
    • Tessier, Aude;
    • Thomas, Sophie
    Publication type:
    Article

  • Contribution of referent pathologists to the quality of trophoblastic diseases diagnosis.

    Published in:
    Human Reproduction, 2011, v. 26, n. 10, p. 2651, doi. 10.1093/humrep/der265
    By:
    • Golfier, Francois;
    • Clerc, Jessica;
    • Hajri, Touria;
    • Massardier, Jerome;
    • Frappart, Lucien;
    • Duvillard, Pierre;
    • Rabreau, Michele;
    • Patrier, Sophie;
    • Devisme, Louise;
    • Carles, Dominique;
    • Pelluard, Fanny;
    • Gasser, Bernard;
    • Tarranger-Charpin, Colette;
    • Schott, Anne-Marie;
    • Raudrant, Daniel
    Publication type:
    Article

  • Gestational choriocarcinoma associated with a germline TP53 mutation.

    Published in:
    Familial Cancer, 2018, v. 17, n. 1, p. 113, doi. 10.1007/s10689-017-9996-7
    By:
    • Brehin, Anne-Claire;
    • Patrier-Sallebert, Sophie;
    • Bougeard, Gaëlle;
    • Side-Pfennig, Gwendoline;
    • Llamas Gutierrez, Francisco;
    • Lamy, Aude;
    • Colasse, Elodie;
    • Kandel-Aznar, Christine;
    • Delnatte, Capucine;
    • Vuillemin, Eric;
    • Sadot-Lebouvier, Sophie;
    • Odent, Sylvie;
    • Sabourin, Jean-Christophe;
    • Golfier, François;
    • Frebourg, Thierry
    Publication type:
    Article

  • Transcriptomic Characterization of Postmolar Gestational Choriocarcinoma.

    Published in:
    Biomedicines, 2021, v. 9, n. 10, p. 1474, doi. 10.3390/biomedicines9101474
    By:
    • Collet, Constance;
    • Lopez, Jonathan;
    • Battail, Christophe;
    • Allias, Fabienne;
    • Devouassoux-Shisheboran, Mojgan;
    • Patrier, Sophie;
    • Lemaitre, Nicolas;
    • Hajri, Touria;
    • Massardier, Jérôme;
    • You, Benoit;
    • Mallet, François;
    • Golfier, François;
    • Alfaidy, Nadia;
    • Bolze, Pierre-Adrien
    Publication type:
    Article

  • Umbilical artery aneurysm in a severe growth-restricted fetus with normal karyotype.

    Published in:
    Prenatal Diagnosis, 2007, v. 27, n. 11, p. 1059, doi. 10.1002/pd.1817
    By:
    • Sentilhes, Loïc;
    • Vivet-Lefébure, Anne;
    • Patrier, Sophie;
    • Lefebvre-Lacoeuille, Céline;
    • Zanati, Joel;
    • Boussion, Françoise;
    • Descamps, Philippe
    Publication type:
    Article

  • Prenatal diagnosis of an exceptional intrauterine herpes simplex type 1 infection.

    Published in:
    Prenatal Diagnosis, 2006, v. 26, n. 2, p. 154, doi. 10.1002/pd.1361
    By:
    • Diguet, Alain;
    • Patrier, Sophie;
    • Eurin, Danielle;
    • Chouchene, Sadok;
    • Marpeau, Loïc;
    • Laquerrière, Annie;
    • Verspyck, Eric
    Publication type:
    Article

  • CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

    Published in:
    Human Mutation, 2009, v. 30, n. 11, p. 1574, doi. 10.1002/humu.21116
    By:
    • Mougou-Zerelli, Soumaya;
    • Thomas, Sophie;
    • Szenker, Emmanuelle;
    • Audollent, Sophie;
    • Elkhartoufi, Nadia;
    • Babarit, Candice;
    • Romano, Stéphane;
    • Salomon, Rémi;
    • Amiel, Jeanne;
    • Esculpavit, Chantal;
    • Gonzales, Marie;
    • Escudier, Estelle;
    • Leheup, Bruno;
    • Loget, Philippe;
    • Odent, Sylvie;
    • Roume, Joëlle;
    • Gérard, Marion;
    • Delezoide, Anne-Lise;
    • Khung, Suonavy;
    • Patrier, Sophie
    Publication type:
    Article

  • Amniotic Band Syndrome with Limb Amputation after Exposure to Mifepristone in Early Pregnancy.

    Published in:
    Fetal Diagnosis & Therapy, 2007, v. 22, n. 1, p. 51, doi. 10.1159/000095844
    By:
    • Sentilhes, Loïc;
    • Patrier, Sophie;
    • Chouchene, Sadok;
    • Diguet, Alain;
    • Berthier, Aurélien;
    • Marpeau, Loïc;
    • Verspyck, Eric
    Publication type:
    Article