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Year Number of Results
2010 1
2011 2
2012 4
2013 2
2014 2
2015 1
2017 2
2020 1
2024 0

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13 results

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Page 1
Two-step ATP-driven opening of cohesin head.
Marcos-Alcalde Í, Mendieta-Moreno JI, Puisac B, Gil-Rodríguez MC, Hernández-Marcos M, Soler-Polo D, Ramos FJ, Ortega J, Pié J, Mendieta J, Gómez-Puertas P. Marcos-Alcalde Í, et al. Among authors: gil rodriguez mc. Sci Rep. 2017 Jun 12;7(1):3266. doi: 10.1038/s41598-017-03118-9. Sci Rep. 2017. PMID: 28607419 Free PMC article.
RAD21 mutations cause a human cohesinopathy.
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. Deardorff MA, et al. Among authors: gil rodriguez mc. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24. Am J Hum Genet. 2012. PMID: 22633399 Free PMC article.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Among authors: gil rodriguez mc. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Ramos M, Menao S, Arnedo M, Puisac B, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Pierre G, Ramaswami U, Baquero-Montoya C, Bueno G, Casale C, Hegardt FG, Gómez-Puertas P, Pié J. Ramos M, et al. Among authors: gil rodriguez mc. Eur J Med Genet. 2013 Aug;56(8):411-5. doi: 10.1016/j.ejmg.2013.05.008. Epub 2013 Jun 7. Eur J Med Genet. 2013. PMID: 23751782
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J. Puisac B, et al. Among authors: gil rodriguez mc. Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28. Mol Biol Rep. 2012. PMID: 21952825
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J. Baquero-Montoya C, et al. Among authors: gil rodriguez mc. Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27. Eur J Med Genet. 2014. PMID: 24874887
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. Pié J, et al. Among authors: gil rodriguez mc. Am J Med Genet A. 2010 Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348. Am J Med Genet A. 2010. PMID: 20358602 Free PMC article.
13 results