Search Results - "Gorbenko del Blanco, D"

Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome by Busnadiego, O, Gorbenko del Blanco, D, González-Santamaría, J, Habashi, J.P, Calderon, J.F, Sandoval, P, Bedja, D, Guinea-Viniegra, J, Lopez-Cabrera, M, Rosell-Garcia, T, Snabel, J.M, Hanemaaijer, R, Forteza, A, Dietz, H.C, Egea, G, Rodriguez-Pascual, F

“…Abstract Patients with Marfan syndrome (MFS) are at high risk of life-threatening aortic dissections. The condition is caused by mutations in the gene encoding…”
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A109 REMODELING AND THE MATRIX: Early Impairment Of Lung Mechanics In A Murine Model Of Marfan Syndrome by Uriarte, J J, Meirelles, T, Del Blanco, D Gorbenko, Nonaka, P N, Campillo, N, Sarri, E, Navajas, D, Egea, G, Farre, R

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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene ( IGSF1 ) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement by Schoenmakers, N, Dr, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken-Koelega, ACS, Del Blanco, D Gorbenko, Rangasami, JJ, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Kant, SG, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GCJ, Pereira, AM, den Dunnen, JT, Wade, MG, Breuning, MH, Hennekam, RC, Dattani, MT, Wit, JM, Bernard, DJ, Chatterjee, K

“…Abstract Background Congenital central hypothyroidism occurs either as isolated thyroid-stimulating hormone (TSH) deficiency or in conjunction with other…”
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Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots by Benito-Sanz, Sara, Gorbenko del Blanco, Darya, Huber, Céline, Thomas, N. Simon, Aza-Carmona, Miriam, Bunyan, David, Maloney, Vivienne, Argente, Jesús, Cormier-Daire, Valérie, Campos-Barros, Ángel, Heath, Karen E.

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