Sotos syndrome is associated with leukemia/lymphoma
Martínez-Glez V, Lapunzina P. Am J Med Genet A. 2007 Jun 1;143A(11):1244-5
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population
Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, Fernández L, Palomares M, Fernández E, Tarduchy GR, Molano J, Gracia R, Pajares IL, Lapunzina P. Am J Med Genet A. 2006 Dec 15;140(24):2832-3.
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. Nat Genet. 2006 Nov;38(11):1248-50
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome
Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M. Am J Med Genet A. 2006 Nov 15;140(22):2426-32
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes
Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M. Eur J Med Genet. 2007 Jan-Feb;50(1):11-20. Epub 2006 Oct 10
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
