|
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. PubMed PMID: 27101134.
AÑO: 2016; IF: 8.229
|
27101134
|
López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E. [Schinzel-Giedion syndrome: a new mutation in SETBP1]. An Pediatr (Barc). 2015 Jan;82(1):e12-6. doi: 10.1016/j.anpedi.2014.06.017. Spanish. PubMed PMID: 25082129.
AÑO: 2015; IF: 0.773
|
|
Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I. Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies. Am J Med Genet A. 2015 Apr;167A(4):786-90. doi: 10.1002/ajmg.a.36949. PubMed PMID: 25655674.
AÑO: 2015; IF: 2.082
|
|
Barroso E, Berges-Soria J, Benito-Sanz S, Rivera-Pedroza CI, Ballesta-Martínez MJ, López-González V, Guillen-Navarro E, Heath KE. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements. Am J Med Genet A. 2015 Apr;167A(4):902-6. doi: 10.1002/ajmg.a.36811. PubMed PMID: 25692887.
AÑO: 2015; IF: 2.082
|
|
Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, Bueno AM, Martinez-Glez V, López-González V, Burnyte B, Utkus A, Lapunzina P, Ruiz-Perez VL. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A. 2014 May;164A(5):1136-42. doi: 10.1002/ajmg.a.36409. PubMed PMID: 24478195.
AÑO: 2014; IF: 2.197
|