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De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.Clin Genet 2007: 72: 188–198. © Blackwell Munksgaard, 2007The diagnosis of Marfan syndrome may be hampered by the existence...
Rouleau E, Lefol C, Tozlu S, Andrieu C, Guy C, Copigny F, Nogues C, Bieche I, Lidereau R. High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1.Clin Genet 2007: 72: 199–207. © Blackwell...
Mapping autism risk loci using genetic linkage and chromosomal rearrangementsThe Autism Genome Project Consortium (2007)Nature Genetics 39: 319–328
Faucz FR, Gimenez J, Ramos MD, Pereira-Ferrari L, Estivill X, Raskin S, Casals T, Culpi L. Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.Clin Genet 2007: 72: 218–223. © Blackwell Munksgaard, 2007Cystic fibrosis (CF) is a genetic disease that...
Basel-Vanagaite L. Genetics of autosomal recessive non-syndromic mental retardation: recent advances.Clin Genet 2007: 72: 167–174. © Blackwell Munksgaard, 2007The identification of the genes mutated in autosomal recessive non-syndromic mental retardation (ARNSMR) has been very active recently....
Bouchard L, Tchernof A, Deshaies Y, Lebel S, Hould F-S, Marceau P, Vohl M-C. CYR61 polymorphisms are associated with plasma HDL-cholesterol levels in obese individuals.Clin Genet 2007: 72: 224–229. © Blackwell Munksgaard, 2007We have recently characterized the transcriptome of the omental...
Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, Elder JE, Casey T, Mackey DA, Craig JE. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.Clin Genet 2007: 72: 255–260. © Blackwell Munksgaard, 2007Analysis of CYP1B1 in primary congenital glaucoma...
Drouin J, Bilodeau S, Vallette S. Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency.Clin Genet 2007: 72: 175–182. © Blackwell Munksgaard, 2007The pituitary gland orchestrates our endocrine environment: it produces hormones in response to hypothalamic factors...
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