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.
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.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan…
Umbilical cord stricture is not a genetic anomaly: a study in twins
Rodríguez JI, Mariño-Enríquez A, Suárez-Aguado J, Lapunzina P. Pediatr Dev Pathol. 2008 Sep-Oct;11(5):363-9. Epub 2007 Sep 25
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy
Alias L, Barceló MJ, Gich I, Estapé M, Parra J, Amenedo M, Baiget M, Tizzano EF. Eur J Hum Genet. 2007 Oct;15(10):1090-3. Epub 2007 Jul 11.1
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
Debeer P, Devriendt K, De Smet L, Deravel T, Gonzalez-Meneses A, Grzeschik KH, Fryns JP. J Child Orthop. 2007 Jul;1(2):143-50. Epub 2007 May 10
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Am J Med Genet A. 2007 May 15;143A(10):1120-5
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.BMC Med Genet. 2007 Apr 2;8:14
