Categoría: Publicaciones

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

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de Terreros I, Valdéz R, Gracia R, Lapunzina P. Am J Med Genet A. 2005 Oct 15;138A(3):272-7

Diagnosis of 9p- syndrome at birth. A new case

Fernández Calderón E, Galán Gómez E, Carbonell Pérez JM, Sáenz Hurtado J, Ledesma Alcázar MC, Cardesa García JJ. An Pediatr (Barc). 2004 Aug;61(2):194-6. Spanish