Works matching Brachydactyly


Results: 514
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    Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

    Published in:
    Clinical Endocrinology, 2018, v. 88, n. 6, p. 820, doi. 10.1111/cen.13581
    By:
    • Sentchordi‐Montané, Lucía;
    • Aza‐Carmona, Miriam;
    • Benito‐Sanz, Sara;
    • Barreda‐ Bonis, Ana C.;
    • Sánchez‐Garre, Consuelo;
    • Prieto‐Matos, Pablo;
    • Ruiz‐Ocaña, Pablo;
    • Lechuga‐Sancho, Alfonso;
    • Carcavilla‐Urquí, Atilano;
    • Mulero‐Collantes, Inés;
    • Martos‐Moreno, Gabriel A.;
    • del Pozo, Angela;
    • Vallespín, Elena;
    • Offiah, Amaka;
    • Parrón‐Pajares, Manuel;
    • Dinis, Isabel;
    • Sousa, Sergio B.;
    • Ros‐Pérez, Purificación;
    • González‐Casado, Isabel;
    • Heath, Karen E.
    Publication type:
    Article
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    Prenatal diagnosis of type A1 brachydactyly.

    Published in:
    Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 6, p. 529, doi. 10.1046/j.1469-0705.2001.00428.x
    By:
    • Den Hollander, N. S.;
    • Hoogeboom, A. J. M.;
    • Niermeijer, M. F.;
    • Wladimiroff, J. W.
    Publication type:
    Article
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    PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 647, doi. 10.1038/ng.3302
    By:
    • Maass, Philipp G;
    • Aydin, Atakan;
    • Qadri, Fatimunnisa;
    • Gong, Maolian;
    • Bähring, Sylvia;
    • Krawitz, Peter M;
    • Parkhomchuk, Dmitri;
    • Mundlos, Stefan;
    • Hecht, Jochen;
    • Kann, Martin;
    • Schuster, Herbert;
    • Chitayat, David;
    • Bialer, Martin G;
    • Wienker, Thomas F;
    • Ott, Jürg;
    • Jordan, Jens;
    • Tank, Jens;
    • Plessis, Ghislaine;
    • Luft, Friedrich C;
    • Mai, Knut
    Publication type:
    Article
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    Brachydactyly E: isolated or as a feature of a syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-141
    By:
    • Pereda, Arrate;
    • Garin, Intza;
    • Garcia-Barcina, Maria;
    • Gener, Blanca;
    • Beristain, Elena;
    • Ibañez, Ane Miren;
    • de Nanclares, Guiomar Perez
    Publication type:
    Article
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    Brachydactyly.

    Published in:
    Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-15
    By:
    • Temtamy, Samia A.;
    • Aglan, Mona S.
    Publication type:
    Article
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    The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
    By:
    • Leroy, Camille;
    • Landais, Emilie;
    • Briault, Sylvain;
    • David, Albert;
    • Tassy, Olivier;
    • Gruchy, Nicolas;
    • Delobel, Bruno;
    • Grégoire, Marie-José;
    • Leheup, Bruno;
    • Taine, Laurence;
    • Lacombe, Didier;
    • Delrue, Marie-Ange;
    • Toutain, Annick;
    • Paubel, Agathe;
    • Mugneret, Francine;
    • Thauvin-Robinet, Christel;
    • Arpin, Stéphanie;
    • Le Caignec, Cedric;
    • Jonveaux, Philippe;
    • Beri, Mylène
    Publication type:
    Article
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    Arterial hypertension with brachydactyly in a 15-year-old boy.

    Published in:
    Pediatric Nephrology, 2003, v. 18, n. 8, p. 814, doi. 10.1007/s00467-003-1169-2
    By:
    • Litwin, Mieczysław;
    • Jurkiewicz, Elżbieta;
    • Nowak, Katarzyna;
    • Kościesza, Andrzej;
    • Grenda, Ryszard;
    • Malczyk, Katarzyna;
    • Kościesza, Iwona
    Publication type:
    Article
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    A misplaced IncRNA causes brachydactyly in humans.

    Published in:
    Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 3990, doi. 10.1172/JCI65508
    By:
    • Maass, Philipp G.;
    • Rump, Andreas;
    • Schulz, Herbert;
    • Stricker, Sigmar;
    • Schulze, Lisanne;
    • Platzer, Konrad;
    • Aydin, Atakan;
    • Tinschert, Sigrid;
    • Goldring, Mary B.;
    • Luft, Friedrich C.;
    • Bähring, Sylvia
    Publication type:
    Article
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