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Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. PubMed PMID: 20648631.
AÑO: 2010; IF: 5.956
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20648631
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Fernández-Rebollo E., Lecumberri B., Garin I., Arroyo J., Bernal-Chico A., Goñi F., Orduña R., Sáez F., Sánchez A., Domínguez A., Santana A., Ruiz R., Castro L., Rivas C., Pérez O., Molinos S., Gaztambide S., Moure M.D., Vela A., Saez R., Unanue G., Menéndez E., Anda A., Pavia C., Diez-Lopez I., Bonet M., Morales M.J., Zapico M., Aguirre M., Muñoz M.T., Rubio-Cabezas O., Argente J., Audi L., Yeste D., Soriguer F., García M., Rodríguez R.M., Goñi M.J., Armenta D., Gonzalez-Duarte D., Barrio R., Cámara A., Martorell L., Suárez L., Cardona R., Gean E., García-Cuartero B., Pereira M.S., Rodríguez B., Azriel S., Jiménez J.M., Sentchordi L., Espino-Aguilar R., Beneyto M., Álvarez C., Luzuriaga C., Calvo M.T., Labarta J.I., Saavedra P., Cañete Estrada R., Guillen-Navarro E., Guillen C., Del Valle J., Luque I., Menéndez A., Oyarzabal M., Castaño L., Pérez De Nanclares G. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism. European Journal of Endocrinology. 1 December 2010. 163:953-962. 10.1530/EJE-10-0435
AÑO: 2010; IF: 3.482
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Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA. Craniosynostosis in Kabuki syndrome. J Neurosurg Pediatr. 2010 Aug;6(2):198-201. doi: 10.3171/2010.5.PEDS09286. PubMed PMID: 20672944.
AÑO: 2010; IF: 2.17
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Bernal S., Alías L., Barceló M.J., Also-Rallo E., Martínez-Hernández R., Gámez J., Guillén-Navarro E., Rosell J., Hernando I., Rodríguez-Alvarez F.J., Borrego S., Millán J.M., Hernández-Chico C., Baiget M., Fuentes-Prior P., Tizzano E.F. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. Journal of Medical Genetics. September 2010. 47:640-642. 10.1136/jmg.2010.079004
AÑO: 2010; IF: 7.037
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Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Review. PubMed PMID: 20799321.
AÑO: 2010; IF: 2.505
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