Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 11 (of 11 Records) |
Query Trace: Chondrocalcinosis 1[original query] |
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Genetic testing for haemochromatosis in patients with chondrocalcinosis. Annals of the rheumatic diseases 2002 Aug 61 (8): 745-7. Timms A E, Sathananthan R, Bradbury L, Athanasou N A, Wordsworth B P, Brown M |
Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. Arthritis and rheumatism 2005 Apr 52 (4): 1110-7. Zhang Yun, Johnson Kristen, Russell R Graham G, Wordsworth B Paul, Carr Andrew J, Terkeltaub Robert A, Brown Matthew |
Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients. Minerva medica 2004 Dec 95 (6): 535-9. Rovetta G, Monteforte P, Buffrini L, Grignolo M C, Franchin |
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. Rheumatology (Oxford, England) 2007 Apr 46 (4): 586-9. Zhang Y, Brown M A, Peach C, Russell G, Wordsworth B |
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. Annals of the rheumatic diseases 2007 Nov 66 (11): 1436-42. Alizadeh B Z, Njajou O T, Hazes J M W, Hofman A, Slagboom P E, Pols H A P, van Duijn C |
The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. The Journal of rheumatology 2008 Jan 35 (1): 153-8. Valenti Luca, Fracanzani Anna Ludovica, Rossi Valeria, Rampini Clementina, Pulixi Edoardo, Varenna Massimo, Fargion Silvia, Sinigaglia Lui |
The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study. Arthritis research & therapy 2014 16 (1): R25. Abhishek Abhishek, Doherty Sally, Maciewicz Rose, Muir Kenneth, Zhang Weiya, Doherty Michael, Valdes Anna |
Genetic analysis of adults heterozygous for ALPL mutations. Journal of bone and mineral metabolism 2017 12 36 (6): 723-733. Taillandier Agnès, Domingues Christelle, Dufour Annika, Debiais Françoise, Guggenbuhl Pascal, Roux Christian, Cormier Catherine, Cortet Bernard, Porquet-Bordes Valérie, Coury Fabienne, Geneviève David, Chiesa Jean, Colin Thierry, Fletcher Elaine, Guichet Agnès, Javier Rose-Marie, Laroche Michel, Laurent Michael, Lausch Ekkehart, LeHeup Bruno, Lukas Cédric, Schwabe Georg, van der Burgt Ineke, Muti Christine, Simon-Bouy Brigitte, Mornet Etien |
Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies. Human genome variation 2017 11 4 17041. Couto Ana Rita, Parreira Bruna, Thomson Russell, Soares Marta, Power Deborah M, Stankovich Jim, Armas Jácome Bruges, Brown Matthew |
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene. Scientific reports 2019 7 9 (1): 9569. García-Fontana Cristina, Villa-Suárez Juan M, Andújar-Vera Francisco, González-Salvatierra Sheila, Martínez-Navajas Gonzalo, Real Pedro J, Gómez Vida José M, de Haro Tomás, García-Fontana Beatriz, Muñoz-Torres Manu |
Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome. Rheumatology (Oxford, England) 2021 9 61 (6): 2494-2503. Chotard Emilie, Blanchard Anne, Ostertag Agnès, Latourte Augustin, Gailly Gilles, Frochot Vincent, Lioté Frédéric, Bousson Valérie, Richette Pascal, Bardin Thomas, Vargas-Poussou Rosa, Ea Hang Kor |
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