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Article
Open AccessCharacterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ...
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Chapter
Epidemiology of Neurofibromatosis Type 1
Neurofibromatosis type 1 is one of the most frequent Mendelian diseases, and some recent studies report an incidence higher than previously assessed (about 1:3000) and closer to 1/2000 live births. In half of ...
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Article
Open AccessSequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases
Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of ...
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Article
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integ...
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Article
Open AccessHOXA genes cluster: clinical implications of the smallest deletion
HOXA genes cluster plays a fundamental role in embryologic development. Deletion of the entire cluster is known to cause a clinically recognizable syndrome with mild developmental delay, characteristic facies,...
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Article
Open AccessRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, mic...
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Article
Open AccessSyndromic obesity: clinical implications of a correct diagnosis
Although individual occurrence is rare, syndromic obesity with mental retardation has been reported in conjunction with 140 different diseases.
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Chapter
Diagnostica molecolare delle genodermatosi
È passato poco più di un ventennio dai primi approcci non clinici per la diagnosi delle malattie genetiche cutanee: in questo spazio di tempo la comunità scientifica internazionale ha coperto una distanza cosm...
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Chapter
Diagnostica molecolare delle genodermatosi
È passato poco più di un ventennio dai primi approcci non clinici per la diagnosi delle malattie genetiche cutanee: in questo spazio di tempo la comunità scientifica internazionale ha coperto una distanza cosm...
