Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension
Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Am J Hum Genet. 2006 Apr;78(4):533-42. Epub 2006 Jan 31.
Williams syndrome: its clinical aspects and molecular bases
Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Review. Spanish1
Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin
López-Exposito I, Guillén-Navarro E, Bafallíu JA, Bernabé MC, Escalona A, Fuster C. Eur J Med Genet. 2006 Nov-Dec;49(6):511-5. Epub 2006 Jun 23
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L. Neuromuscul Disord. 2006 Jul;16(7):449-53. Epub 2006 Jun 27
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