Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene
Venceslá A, Barceló MJ, Baena M, Quintana M, Baiget M, Tizzano EF. Haematologica. 2007 Nov;92(11):1583-4.
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Methylation-specific MLPA (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lapunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N.J Med Genet. 2007 Oct 15
Germinal mosaicism in Simpson-Golabi-Behmel syndrome
Romanelli V, Arroyo I, Rodriguez JI, Magano L, Arias P, Incera I, Gracia-Bouthelier R, Lapunzina P. Clin Genet. 2007 Oct;72(4):384-65
Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama’s disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients
Gamez J, Also E, Alias L, Corbera-Bellalta M, Barceló MJ, Centeno M, Raguer N, Gratacós M, Baiget M, Tizzano EF. Clin Neurol Neurosurg. 2007 Dec;109(10):844-8. Epub 2007 Sep 11.