Found: 9

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  • Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

    Published in:
    Clinical Genetics, 2016, v. 89, n. 1, p. 68, doi. 10.1111/cge.12567
    By:
    • Leroy, C.;
    • Jacquemont, M.‐L.;
    • Doray, B.;
    • Lamblin, D.;
    • Cormier‐Daire, V.;
    • Philippe, A.;
    • Nusbaum, S.;
    • Patrat, C.;
    • Steffann, J.;
    • Colleaux, L.;
    • Vekemans, M.;
    • Romana, S.;
    • Turleau, C.;
    • Malan, V.
    Publication type:
    Article

  • Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

    Published in:
    Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275
    By:
    • Chassaing, N.;
    • Causse, A.;
    • Vigouroux, A.;
    • Delahaye, A.;
    • Alessandri, J.‐L.;
    • Boespflug‐Tanguy, O.;
    • Boute‐Benejean, O.;
    • Dollfus, H.;
    • Duban‐Bedu, B.;
    • Gilbert‐Dussardier, B.;
    • Giuliano, F.;
    • Gonzales, M.;
    • Holder‐Espinasse, M.;
    • Isidor, B.;
    • Jacquemont, M.‐L.;
    • Lacombe, D.;
    • Martin‐Coignard, D.;
    • Mathieu‐Dramard, M.;
    • Odent, S.;
    • Picone, O.
    Publication type:
    Article

  • Gorlin syndrome presenting as prenatal chylothorax in a girl.

    Published in:
    Prenatal Diagnosis, 2005, v. 25, n. 11, p. 997, doi. 10.1002/pd.1231
    By:
    • Geneviève, D.;
    • Walter, E.;
    • Gorry, P.;
    • Jacquemont, M. L.;
    • Dupic, L.;
    • Layet, V.;
    • Munnich, A.;
    • Cormier-Daire, V.;
    • Dommergues, M.;
    • Lyonnet, S.;
    • Mitanchez, D.
    Publication type:
    Article

  • 努南综合征的皮肤病表现.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 6, p. e266, doi. 10.1111/bjd.17978
    By:
    • Bessis, D.;
    • Miquel, J.;
    • Bourrat, E.;
    • Chiaverini, C.;
    • Morice‐Picard, F.;
    • Abadie, C.;
    • Manna, F.;
    • Baumann, C.;
    • Best, M.;
    • Blanchet, P.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Coubes, C.;
    • Giuliano, F.;
    • Guillaumont, S.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Jeandel, C.;
    • Lacombe, D.;
    • Mallet, S.
    Publication type:
    Article

  • Dermatological manifestations in Noonan syndrome.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 6, p. e249, doi. 10.1111/bjd.17961
    By:
    • Bessis, D.;
    • Miquel, J.;
    • Bourrat, E.;
    • Chiaverini, C.;
    • Morice‐Picard, F.;
    • Abadie, C.;
    • Manna, F.;
    • Baumann, C.;
    • Best, M.;
    • Blanchet, P.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Coubes, C.;
    • Giuliano, F.;
    • Guillaumont, S.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Jeandel, C.;
    • Lacombe, D.;
    • Mallet, S.
    Publication type:
    Article

  • Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 6, p. 1438, doi. 10.1111/bjd.17404
    By:
    • Bessis, D.;
    • Miquel, J.;
    • Bourrat, E.;
    • Chiaverini, C.;
    • Morice‐Picard, F.;
    • Abadie, C.;
    • Manna, F.;
    • Baumann, C.;
    • Best, M.;
    • Blanchet, P.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Coubes, C.;
    • Giuliano, F.;
    • Guillaumont, S.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Jeandel, C.;
    • Lacombe, D.;
    • Mallet, S.
    Publication type:
    Article

  • 心脸皮肤综合症中的皮肤表现.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 1, p. e30, doi. 10.1111/bjd.17385
    By:
    • Bessis, D.;
    • Morice‐Picard, F.;
    • Bourrat, E.;
    • Abadie, C.;
    • Aouinti, S.;
    • Baumann, C.;
    • Best, M.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Chiaverini, C.;
    • Coubes, C.;
    • Giuliano, F.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Lacombe, D.;
    • Lyonnet, S.;
    • Mallet, S.;
    • Mazereeuw‐Hautier, J.;
    • Miquel, J.;
    • Molinari, N.
    Publication type:
    Article

  • Dermatological manifestations in cardiofaciocutaneous syndrome.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 1, p. e17, doi. 10.1111/bjd.17371
    By:
    • Bessis, D.;
    • Morice‐Picard, F.;
    • Bourrat, E.;
    • Abadie, C.;
    • Aouinti, S.;
    • Baumann, C.;
    • Best, M.;
    • Bursztejn, A.‐C.;
    • Capri, Y.;
    • Chiaverini, C.;
    • Coubes, C.;
    • Giuliano, F.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Lacombe, D.;
    • Lyonnet, S.;
    • Mallet, S.;
    • Mazereeuw‐Hautier, J.;
    • Miquel, J.;
    • Molinari, N.
    Publication type:
    Article

  • Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients.

    Published in:
    British Journal of Dermatology, 2019, v. 180, n. 1, p. 172, doi. 10.1111/bjd.17077
    By:
    • Best, M.;
    • Pernet, C.;
    • Bessis, D.;
    • Coubes, C.;
    • Pinson, L.;
    • Sarda, P.;
    • Geneviève, D.;
    • Giuliano, F.;
    • Hadj‐Rabia, S.;
    • Jacquemont, M.‐L.;
    • Lacombe, D.;
    • Lyonnet, S.;
    • Mallet, S.;
    • Mazereeuw‐Hautier, J.;
    • Miquel, J.;
    • Parfait, B.;
    • Philip, N.;
    • Sigaudy, S.;
    • Pouvreau, N.;
    • Vial, Y.
    Publication type:
    Article