Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects
López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E. Prenat Diagn. 2006 Jun;26(6):577-80
Fragile X syndrome
lóver-López G, Guillén-Navarro E. Rev Neurol. 2006 Jan 7;42 Suppl 1:S51-4.
Monogenic causes of X-linked mental retardation
Guillén-Navarro E, Glóver-López G. Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9
Preventing neural tube defects in Europe: a missed opportunity
Busby A, Abramsky L, Dolk H, Armstrong B, Addor MC, Anneren G, Armstrong N, Baguette A, Barisic I, Berghold A, Bianca S, Braz P, Calzolari E, Christiansen M, Cocchi G, Daltveit AK, De Walle H, Edwards G, Gatt M, Gener B, Gillerot Y, Gjergja R, Goujard J, Haeusler M, Latos-Bielenska A, McDonnell R, Neville A,…
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Am J Med Genet A. 2006 Jan 1;140(1):1-7.
Mietens-Weber syndrome: two new patients and a review
Martínez-Glez V, Lapunzina P, Delicado A, Tendero A, Mori MA, de Torres ML, Fernández L, Palomares M, Pajares IL. Clin Dysmorphol. 2006 Jul;15(3):175-7
Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling
Alonso J, Palacios I, Gámez A, Camino I, Frayle H, Menéndez I, Kontic M, García-Miguel P, Sastre A, Abelairas J, Sarret E, Sabado C, Navajas A, Artigas M, Indiano JM, Carbone A, Rosell J, Pestaña A. Med Clin (Barc). 2006 Mar 25;126(11):401-5. Spanish
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients
Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A. Hum Mutat. 2005 Jan;25(1):99
Positional skull deformities in children: skull deformation without synostosis
Martínez-Lage JF, Ruíz-Espejo AM, Gilabert A, Pérez-Espejo MA, Guillén-Navarro E. Childs Nerv Syst. 2006 Apr;22(4):368-74. Epub 2005 Oct 20
Characterization of six marker chromosomes by comparative genomic hybridization
Belloso JM, Caballín MR, Gabau E, Baena N, Vidal R, Villatoro S, Guitart M. Am J Med Genet A. 2005 Jul 15;136(2):169-74