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Page 1
CE-MS fingerprinting of Laurencia complex algae (Rhodophyta).
Machín-Sánchez M, Asensio-Ramos M, Hernández-Borges J, Gil-Rodríguez MC. Machín-Sánchez M, et al. J Sep Sci. 2014 Mar;37(6):711-6. doi: 10.1002/jssc.201301199. Epub 2014 Jan 29. J Sep Sci. 2014. PMID: 24415709
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.
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
Puisac B, Teresa-Rodrigo ME, Hernández-Marcos M, Baquero-Montoya C, Gil-Rodríguez MC, Visnes T, Bot C, Gómez-Puertas P, Kaiser FJ, Ramos FJ, Ström L, Pié J. Puisac B, et al. Among authors: gil rodriguez mc. Int J Mol Sci. 2017 Feb 23;18(3):481. doi: 10.3390/ijms18030481. Int J Mol Sci. 2017. PMID: 28241484 Free PMC article.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ. Teresa-Rodrigo ME, et al. Among authors: gil rodriguez mc. Biomed Res Int. 2016;2016:8742939. doi: 10.1155/2016/8742939. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925417 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.
Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. Ramos FJ, et al. Among authors: gil rodriguez mc. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537356 Free PMC article. No abstract available.
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, Baquero C, Hernández-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pié J. Teresa-Rodrigo ME, et al. Among authors: gil rodriguez mc. Int J Mol Sci. 2014 Jun 10;15(6):10350-64. doi: 10.3390/ijms150610350. Int J Mol Sci. 2014. PMID: 24918291 Free PMC article.
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
21 results