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Biffi A, Cesani M, Fumagalli F, Del Carro U, Baldoli C, Canale S, Gerevini S, Amadio S, Falautano M, Rovelli A, Comi G, Roncarolo MG, Sessa M. Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation.Clin Genet 2008: 74: 349–357. ©...
Tucker HA. Birth defects before epigenesis.Clin Genet 2008: 74: 338–342. © Blackwell Munksgaard, 2008Physicians have tried to explain the origins of birth defects since antiquity. In early humoralist models, fetal anomalies were most often understood in terms of quantity and quality of male...
Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P. Confirmation of RAX gene involvement in human anophthalmia.Clin Genet 2008: 74: 392–395. © Blackwell Munksgaard, 2008Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities...
Erson AE, Petty EM. MicroRNAs in development and disease.Clin Genet 2008: 74: 296–306. © Blackwell Munksgaard, 2008Since the discovery of microRNAs (miRNAs) in Caenorhabditis elegans, mounting evidence illustrates the important regulatory roles for miRNAs in various developmental,...
Wang Y, Liang Y, Lu Q. MicroRNA epigenetic alterations: predicting biomarkers and therapeutic targets in human diseases.Clin Genet 2008: 74: 307–315. © Blackwell Munksgaard, 2008MicroRNAs (miRNAs) consist of a class of evolutionarily conserved small non-coding RNA that regulates target...
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathySaitsu et al. (2008)Nature Genetics 40: 782–788
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams–Beuren syndrome deletionCuscó et al. (2008)Genome Research 18 (5): 683–694. Epub 21 February 2008
Lombardi F, Fasciglione GF, D’Apice MR, Vielle A, D’Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.Clin Genet 2008: 74: 374–383....
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