Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction
Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST. Genet Med. 2006 Oct;8(10):628-34
Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools
May PA, Fiorentino D, Phillip Gossage J, Kalberg WO, Eugene Hoyme H, Robinson LK, Coriale G, Jones KL, del Campo M, Tarani L, Romeo M, Kodituwakku PW, Deiana L, Buckley D, Ceccanti M. Alcohol Clin Exp Res. 2006 Sep;30(9):1562-75
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG. Neuromuscul Disord. 2006 Oct;16(9-10):541-7. Epub 2006 Sep 1
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands
Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE. Hum Mutat. 2006 Oct;27(10):1062
Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis
Barceló MJ, Alias L, Caselles L, Robles Y, Baiget M, Tizzano EF. Genet Med. 2006 Apr;8(4):259-62
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
