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Elisa Docampo

Explore the profile of Elisa Docampo including associated specialties, affiliations and a list of published articles. Areas
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Articles 23
Citations 1961
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Recent Articles
1.
Chatelain C, Kukor L, Bailleux S, Bours V, Bulk S, Docampo E
Eur J Med Genet . 2024 Dec; 73:104985. PMID: 39638120
Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation is reminiscent of Marfan and Loeys-Dietz syndromes, making...
2.
Crevecoeur J, Docampo E, Martin M, Bours V
Rev Med Liege . 2024 Jun; 79(5-6):372-378. PMID: 38869126
Despite screening programmes, numerous clinical studies and new breast imaging techniques, breast cancer incidence for women continues to rise. The arrival of predictive and personalized medicine could clearly redefine our...
3.
Lehane F, Malaise O, von Frenckell C, Otto B, Docampo E, Ribbens C
J Clin Med . 2024 Apr; 13(8). PMID: 38673536
Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is well known in pediatrics with typical presentations in children,...
4.
Docampo E, Lehane F, Ribbens C
Rev Med Liege . 2023 Nov; 78(11):626-633. PMID: 37955292
The Ehlers Danlos syndromes (EDS) are a heterogenous group of inherited connective tissue disorders characterized by generalized joint hypermobility and instability, tissue fragility and multiple functional disorders. The EDS hypermobility...
5.
Munn-Chernoff M, Johnson E, Chou Y, Coleman J, Thornton L, Walters R, et al.
Addict Biol . 2020 Feb; 26(1):e12880. PMID: 32064741
Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia...
6.
Watson H, Yilmaz Z, Thornton L, Hubel C, Coleman J, Gaspar H, et al.
Nat Genet . 2019 Jul; 51(8):1207-1214. PMID: 31308545
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness, affecting 0.9-4% of women and 0.3% of men, with twin-based heritability estimates of 50-60%. Mortality...
7.
Momozawa Y, Dmitrieva J, Theatre E, Deffontaine V, Rahmouni S, Charloteaux B, et al.
Nat Commun . 2018 Jun; 9(1):2427. PMID: 29930244
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes...
8.
Anttila V, Bulik-Sullivan B, Finucane H, Walters R, Bras J, Duncan L, et al.
Science . 2018 Jun; 360(6395). PMID: 29930110
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide...
9.
Huang H, Fang M, Jostins L, Mirkov M, Boucher G, Anderson C, et al.
Nature . 2017 Jun; 547(7662):173-178. PMID: 28658209
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect millions of people worldwide. Genome-wide association studies have identified 200 inflammatory bowel disease-associated loci, but few have been conclusively resolved...
10.
Ombrello M, Arthur V, Remmers E, Hinks A, Tachmazidou I, Grom A, et al.
Ann Rheum Dis . 2016 Dec; 76(5):906-913. PMID: 27927641
Objectives: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form...