- Caparrós-Martin, J.A.; Valencia, M.; Pulido, V.; Martínez-Glez, V.; Rueda-Arenas, I.; Amr, K.; Farra, C.; Lapunzina, P.; Ruiz-Perez, V.L.; Temtamy, S.; Aglan, M. "Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.". Am. J. Med. Genet. A. 161A(6): 1354-1369. (2013). (PMID: 23613367).
 
- Puig-Hervás, M.T.; Temtamy, S.; Aglan, M.; Valencia, M.; Martínez-Glez, V.; Ballesta-Martínez, M.J.; López-González, V.; Ashour, A.M.; Amr, K.; Pulido, V.; Guillén-Navarro, E.; Lapunzina, P.; Caparrós-Martín, J.A.; Ruiz-Perez, V.L. "Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.". Hum. Mutat.. 33(10): 1444-1449. (2012). (PMID: 22689593).
- Martínez-Glez, V.; Valencia, M.; Caparrós-Martín, J.A.; Aglan, M.; Temtamy, S.; Tenorio, J.; Pulido, V.; Lindert, U.; Rohrbach, M.; Eyre, D.; Giunta, C.; Lapunzina, P.; Ruiz-Perez, V.L. "Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.". Hum. Mutat.. 33(2): 343-350. (2012). (PMID: 22052668).
|
Email:Info