Stefano Ferrari,Enzo Di Iorio,Vanessa Barbaro et al.
Stefano Ferrari et al.
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and characterized by abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium of the retina which lead to progressive ...
Francesco Parmeggiani
Francesco Parmeggiani
Jan D Marshall,Pietro Maffei,Gayle B Collin et al.
Jan D Marshall et al.
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in ...
Fragile x syndrome [0.03%]
脆性X染色体综合征
Yingratana McLennan,Jonathan Polussa,Flora Tassone et al.
Yingratana McLennan et al.
Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in ...
Merlin G Butler
Merlin G Butler
Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder due to errors in genomic imprinting with loss of imprinted genes that are paternally expressed from the chromosome 15q11-q13 region. Approximately 70% of individuals with ...
Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature [0.03%]
与肥胖相关的结构染色体异常：4例报道及文献复习
Majed J Dasouki,Erin L Youngs,Karine Hovanes
Majed J Dasouki
Obesity in humans is a complex polygenic trait with high inter-individual heritability estimated at 40-70%. Candidate gene, DNA linkage and genome-wide association studies (GWAS) have allowed for the identification of a large set of genes a...
William S Garver
William S Garver
Childhood overweight and obesity have reached epidemic proportions worldwide, and the increase in weight-associated co-morbidities including premature type 2 diabetes mellitus (T2DM) and atherosclerotic cardiovascular disease will soon beco...
Hélène Choquet,David Meyre
Hélène Choquet
Candidate gene and genome-wide association studies have led to the discovery of nine loci involved in Mendelian forms of obesity and 58 loci contributing to polygenic obesity. These loci explain a small fraction of the heritability for obes...
Hélène Choquet,David Meyre
Hélène Choquet
Obesity is a global health problem that is gradually affecting each continent of the world. Obesity is a heterogeneous disorder, and the biological causes of obesity are complex. The rapid increase in obesity prevalence during the past few ...
Merlin G Butler
Merlin G Butler