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Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Septiembre 1, 2007

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…

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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

Septiembre 1, 2007

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.

Germinal mosaicism in Simpson-Golabi-Behmel syndrome

Octubre 1, 2007

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

Methylation-specific MLPA (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

Octubre 1, 2007

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