Works by Pyle, Louise C.

Results: 11
    1

    Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 13, p. 1647, doi. 10.1002/pd.6700
    By:
    • Favier, Maud;
    • Brischoux‐Boucher, Elise;
    • Pyle, Louise C.;
    • Mottet, Nicolas;
    • Auber‐Lenoir, Marion;
    • Cattin, Julie;
    • Dahlen, Eric;
    • Cabrol, Christelle;
    • Arbez‐Gindre, Francine;
    • Attié‐Bitach, Tania;
    • Boute, Odile;
    • Devisme, Louise;
    • Trost, Detlef;
    • Boughalem, Aicha;
    • Chitayat, David;
    • Prasov, Lev;
    • Chorin, Odelia;
    • Rein‐Rothschild, Annick;
    • Kassif, Eran;
    • Weissbach, Tal
    Publication type:
    Article
    2

    Identification of 22 susceptibility loci associated with testicular germ cell tumors.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24334-y
    By:
    • Pluta, John;
    • Pyle, Louise C.;
    • Nead, Kevin T.;
    • Wilf, Rona;
    • Li, Mingyao;
    • Mitra, Nandita;
    • Weathers, Benita;
    • D'Andrea, Kurt;
    • Almstrup, Kristian;
    • Anson-Cartwright, Lynn;
    • Benitez, Javier;
    • Brown, Christopher D.;
    • Chanock, Stephen;
    • Chen, Chu;
    • Cortessis, Victoria K.;
    • Ferlin, Alberto;
    • Foresta, Carlo;
    • Gamulin, Marija;
    • Gietema, Jourik A.;
    • Grasso, Chiara
    Publication type:
    Article
    3

    The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
    By:
    • Stevens, Servi J. C.;
    • Stumpel, Constance T. R. M.;
    • Diderich, Karin E. M.;
    • van Slegtenhorst, Marjon A.;
    • Abbott, Mary‐Alice;
    • Manning, Courtney;
    • Balciuniene, Jorune;
    • Pyle, Louise C.;
    • Leonard, Jacqueline;
    • Murrell, Jill R.;
    • van de Putte, Romy;
    • van Rooij, Iris A. L. M.;
    • Hoischen, Alexander;
    • Lasko, Paul;
    • Brunner, Han G.
    Publication type:
    Article
    4

    Expanding the reproductive organ phenotype of CHD7‐spectrum disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1418, doi. 10.1002/ajmg.a.63148
    By:
    • Nomakuchi, Tomoki T.;
    • Danowitz, Melinda;
    • Stewart, Blythe;
    • Leonard, Jacqueline;
    • Izumi, Kosuke;
    • Krantz, Ian;
    • Kolon, Thomas F.;
    • Langdon, David;
    • Skraban, Cara;
    • Van Batavia, Jason;
    • Zackai, Elaine;
    • Jiao, Kai;
    • Linn, Rebecca;
    • Alexander, Caitlin;
    • Zaontz, Mark;
    • Vogiatzi, Maria G.;
    • Pyle, Louise C.
    Publication type:
    Article
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    10

    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008130
    By:
    • Garnai, Sarah J.;
    • Brinkmeier, Michelle L.;
    • Emery, Ben;
    • Aleman, Tomas S.;
    • Pyle, Louise C.;
    • Veleva-Rotse, Biliana;
    • Sisk, Robert A.;
    • Rozsa, Frank W.;
    • Ozel, Ayse Bilge;
    • Li, Jun Z.;
    • Moroi, Sayoko E.;
    • Archer, Steven M.;
    • Lin, Cheng-mao;
    • Sheskey, Sarah;
    • Wiinikka-Buesser, Laurel;
    • Eadie, James;
    • Urquhart, Jill E.;
    • Black, Graeme C.M.;
    • Othman, Mohammad I.;
    • Boehnke, Michael
    Publication type:
    Article
    11

    Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
    By:
    • Li, Dong;
    • March, Michael E.;
    • Fortugno, Paola;
    • Cox, Liza L.;
    • Matsuoka, Leticia S.;
    • Monetta, Rosanna;
    • Seiler, Christoph;
    • Pyle, Louise C.;
    • Bedoukian, Emma C.;
    • Sánchez-Soler, María José;
    • Caluseriu, Oana;
    • Grand, Katheryn;
    • Tam, Allison;
    • Aycinena, Alicia R. P.;
    • Camerota, Letizia;
    • Guo, Yiran;
    • Sleiman, Patrick;
    • Callewaert, Bert;
    • Kumps, Candy;
    • Dheedene, Annelies
    Publication type:
    Article