Works matching Human abnormality genetics

Results: 340
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    A Note on Angiogenesis.

    Published in:
    Journal of Dermatologic Surgery & Oncology, 1978, v. 4, n. 11, p. 827, doi. 10.1111/j.1524-4725.1978.tb00559.x
    By:
    • Leider, Morris
    Publication type:
    Article
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    Impact of genetic abnormalities on survival after allogeneic hematopoietic stem cell transplantation in multiple myeloma.

    Published in:
    Leukemia (08876924), 2008, v. 22, n. 6, p. 1250, doi. 10.1038/leu.2008.88
    By:
    • Schilling, G.;
    • Hansen, T.;
    • Shimoni, A.;
    • Zabelina, T.;
    • Simon-Perez, J.-A.;
    • Gutierrez, N. C.;
    • Bethge, W.;
    • Liebisch, P.;
    • Schwerdtfeger, R.;
    • Bornhäuser, M.;
    • Otterstetter, S.;
    • Penas, E. M. M.;
    • Dierlamm, J.;
    • Ayuk, F.;
    • Atanackovic, D.;
    • Bacher, U.;
    • Bokemeyer, C.;
    • Zander, A.;
    • Miguel, J. S.;
    • Nagler, A.
    Publication type:
    Article
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    Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.

    Published in:
    2018
    By:
    • Maruani, Annabel;
    • Boccara, Olivia;
    • Bessis, Didier;
    • Guibaud, Laurent;
    • Vabres, Pierre;
    • Mazereeuw-Hautier, Juliette;
    • Barbarot, Sébastien;
    • Chiaverini, Christine;
    • Blaise, Sophie;
    • Droitcourt, Catherine;
    • Mallet, Stéphanie;
    • Martin, Ludovic;
    • Lorette, Gérard;
    • Woillard, Jean-Baptiste;
    • Jonville-Bera, Annie-Pierre;
    • Rollin, Jérome;
    • Gruel, Yves;
    • Herbreteau, Denis;
    • Goga, Dominique;
    • le Touze, Anne
    Publication type:
    journal article
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    Congenital malformations.

    Published in:
    Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, p. 25, doi. 10.3109/14767058.2012.664943
    By:
    • Corsello, Giovanni;
    • Giuffrè, Mario
    Publication type:
    Article
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    Investigational Treatments for Epidermolysis Bullosa.

    Published in:
    American Journal of Clinical Dermatology, 2021, v. 22, n. 6, p. 801, doi. 10.1007/s40257-021-00626-3
    By:
    • Hou, Ping-Chen;
    • Wang, Han-Tang;
    • Abhee, Stasha;
    • Tu, Wei-Ting;
    • McGrath, John A.;
    • Hsu, Chao-Kai
    Publication type:
    Article
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    Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene-Gene and Gene-Environment Interactions.

    Published in:
    Environmental Health Perspectives, 2006, v. 114, n. 10, p. 1547, doi. 10.1289/ehp.9166
    By:
    • Boyles, Abee L.;
    • Billups, Ashley V.;
    • Deak, Kristen L.;
    • Siegel, Deborah G.;
    • Mehltretter, Lorraine;
    • Slifer, Susan H.;
    • Bassuk, Alexander G.;
    • Kessler, John A.;
    • Reed, Michael C.;
    • Nijhout, H. Frederik;
    • George, Timothy M.;
    • Enterline, David S.;
    • Gilbert, John R.;
    • Speer, Marcy C.
    Publication type:
    Article
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    Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.

    Published in:
    Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915
    By:
    • de Pontual, Loïc;
    • Yao, Evelyn;
    • Callier, Patrick;
    • Faivre, Laurence;
    • Drouin, Valérie;
    • Cariou, Sandra;
    • Van Haeringen, Arie;
    • Geneviève, David;
    • Goldenberg, Alice;
    • Oufadem, Myriam;
    • Manouvrier, Sylvie;
    • Munnich, Arnold;
    • Vidigal, Joana Alves;
    • Vekemans, Michel;
    • Lyonnet, Stanislas;
    • Henrion-Caude, Alexandra;
    • Ventura, Andrea;
    • Amiel, Jeanne
    Publication type:
    Article
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    Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
    By:
    • Bicknell, Louise S.;
    • Bongers, Ernie M. H. F.;
    • Leitch, Andrea;
    • Brown, Stephen;
    • Schoots, Jeroen;
    • Harley, Margaret E.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • Bober, Michael;
    • Brown, Paul A. J.;
    • van Bokhoven, Hans;
    • Dean, John;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • Hoefsloot, Lies H;
    • Kau, Nikolaus;
    • Knoers, Nine V. A. M.;
    • MacKenzie, James;
    • Opitz, John M.
    Publication type:
    Article
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    Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 360, doi. 10.1038/ng.777
    By:
    • Guernsey, Duane L.;
    • Matsuoka, Makoto;
    • Jiang, Haiyan;
    • Evans, Susan;
    • Macgillivray, Christine;
    • Nightingale, Mathew;
    • Perry, Scott;
    • Ferguson, Meghan;
    • LeBlanc, Marissa;
    • Paquette, Jean;
    • Patry, Lysanne;
    • Rideout, Andrea L.;
    • Thomas, Aidan;
    • Orr, Andrew;
    • McMaster, Chris R.;
    • Michaud, Jacques L.;
    • Deal, Cheri;
    • Langlois, Sylvie;
    • Superneau, Duane W.;
    • Parkash, Sandhya
    Publication type:
    Article
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