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
Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999
Dolk H, Loane M, Garne E, De Walle H, Queisser-Luft A, De Vigan C, Addor MC, Gener B, Haeusler M, Jordan H, Tucker D, Stoll C, Feijoo M, Lillis D, Bianchi F. Rev Epidemiol Sante Publique. 2005 Nov;53 Spec No 2:2S87-95
Prenatal diagnosis of severe structural congenital malformations in Europe
Garne E, Loane M, Dolk H, De Vigan C, Scarano G, Tucker D, Stoll C, Gener B, Pierini A, Nelen V, Rösch C, Gillerot Y, Feijoo M, Tincheva R, Queisser-Luft A, Addor MC, Mosquera C, Gatt M, Barisic I. Ultrasound Obstet Gynecol. 2005 Jan;25(1):6-11
