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
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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…
DetallesUmbilical 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
