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Page 1
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: gorbenko del blanco d. Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15. Am J Hum Genet. 2005. PMID: 16175500 Free PMC article.
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Among authors: gorbenko del blanco d. Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390. Am J Hum Genet. 2006. PMID: 16826534 Free PMC article. No abstract available.
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE. Aza-Carmona M, et al. Among authors: gorbenko del blanco d. PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014. PLoS One. 2014. PMID: 24421874 Free PMC article.
Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome.
Crosas-Molist E, Meirelles T, López-Luque J, Serra-Peinado C, Selva J, Caja L, Gorbenko Del Blanco D, Uriarte JJ, Bertran E, Mendizábal Y, Hernández V, García-Calero C, Busnadiego O, Condom E, Toral D, Castellà M, Forteza A, Navajas D, Sarri E, Rodríguez-Pascual F, Dietz HC, Fabregat I, Egea G. Crosas-Molist E, et al. Among authors: gorbenko del blanco d. Arterioscler Thromb Vasc Biol. 2015 Apr;35(4):960-72. doi: 10.1161/ATVBAHA.114.304412. Epub 2015 Jan 15. Arterioscler Thromb Vasc Biol. 2015. PMID: 25593132
The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
García M, Barrio R, García-Lavandeira M, Garcia-Rendueles AR, Escudero A, Díaz-Rodríguez E, Gorbenko Del Blanco D, Fernández A, de Rijke YB, Vallespín E, Nevado J, Lapunzina P, Matre V, Hinkle PM, Hokken-Koelega AC, de Miguel MP, Cameselle-Teijeiro JM, Nistal M, Alvarez CV, Moreno JC. García M, et al. Among authors: gorbenko del blanco d. Sci Rep. 2017 Mar 6;7:42937. doi: 10.1038/srep42937. Sci Rep. 2017. PMID: 28262687 Free PMC article.
Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome.
Busnadiego O, Gorbenko Del Blanco D, González-Santamaría J, Habashi JP, Calderon JF, Sandoval P, Bedja D, Guinea-Viniegra J, Lopez-Cabrera M, Rosell-Garcia T, Snabel JM, Hanemaaijer R, Forteza A, Dietz HC, Egea G, Rodriguez-Pascual F. Busnadiego O, et al. Among authors: gorbenko del blanco d. J Mol Cell Cardiol. 2015 Aug;85:48-57. doi: 10.1016/j.yjmcc.2015.05.008. Epub 2015 May 16. J Mol Cell Cardiol. 2015. PMID: 25988230 Free article.
Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome.
Uriarte JJ, Meirelles T, Gorbenko Del Blanco D, Nonaka PN, Campillo N, Sarri E, Navajas D, Egea G, Farré R. Uriarte JJ, et al. Among authors: gorbenko del blanco d. PLoS One. 2016 Mar 22;11(3):e0152124. doi: 10.1371/journal.pone.0152124. eCollection 2016. PLoS One. 2016. PMID: 27003297 Free PMC article.
Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model.
Mas-Stachurska A, Siegert AM, Batlle M, Gorbenko Del Blanco D, Meirelles T, Rubies C, Bonorino F, Serra-Peinado C, Bijnens B, Baudin J, Sitges M, Mont L, Guasch E, Egea G. Mas-Stachurska A, et al. Among authors: gorbenko del blanco d. J Am Heart Assoc. 2017 Sep 25;6(9):e006438. doi: 10.1161/JAHA.117.006438. J Am Heart Assoc. 2017. PMID: 28947563 Free PMC article.
Increased upper airway collapsibility in a mouse model of Marfan syndrome.
da Palma RK, Farré R, Montserrat JM, Gorbenko Del Blanco D, Egea G, de Oliveira LV, Navajas D, Almendros I. da Palma RK, et al. Among authors: gorbenko del blanco d. Respir Physiol Neurobiol. 2015 Feb 1;207:58-60. doi: 10.1016/j.resp.2014.12.013. Epub 2014 Dec 23. Respir Physiol Neurobiol. 2015. PMID: 25541192
A FBN1 3'UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome.
Siegert AM, García Díaz-Barriga G, Esteve-Codina A, Navas-Madroñal M, Gorbenko Del Blanco D, Alberch J, Heath S, Galán M, Egea G. Siegert AM, et al. Among authors: gorbenko del blanco d. Biochim Biophys Acta Mol Basis Dis. 2019 Jan;1865(1):107-114. doi: 10.1016/j.bbadis.2018.10.029. Epub 2018 Oct 30. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30385411 Free article.
15 results