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Quoted phrase not found in phrase index: "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"
Page 1
Skin is a window on heritable disorders of connective tissue.
Holbrook KA, Byers PH. Holbrook KA, et al. Am J Med Genet. 1989 Sep;34(1):105-21. doi: 10.1002/ajmg.1320340118. Am J Med Genet. 1989. PMID: 2683775 Review.
A skin biopsy contains the macromolecules present in most connective tissues: collagens, elastin, glycoproteins, and proteoglycans. The specific combination and assembly of these matrix components and their interactions with other structures (e.g., epidermal appendages, ne …
A skin biopsy contains the macromolecules present in most connective tissues: collagens, elastin, glycoproteins, and proteoglycans. The spec …
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS. Abdul Wahab A, et al. Acta Paediatr. 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. Acta Paediatr. 2003. PMID: 12801113
These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers-Danlos syndrome and other connective tissue disorders, such as Cutis Laxa, Familial Aneurysm, and Osteogenesis imperfecta, was …
These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers-Danlos …
Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M; CADISP-plus consortium. Debette S, et al. Neurology. 2014 Nov 25;83(22):2023-31. doi: 10.1212/WNL.0000000000001027. Epub 2014 Oct 29. Neurology. 2014. PMID: 25355833 Free PMC article.
Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagn …
Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. …
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC. Cabral WA, et al. Hum Mutat. 2007 Apr;28(4):396-405. doi: 10.1002/humu.20456. Hum Mutat. 2007. PMID: 17206620
The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glycine in a Gly-Xaa-Yaa triplet by another amino acid. We delineated a Y-position substitution in a small pedigree with a combined OI/ …
The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glyci …
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM. Vandersteen AM, et al. Am J Med Genet A. 2014 Feb;164A(2):386-91. doi: 10.1002/ajmg.a.36285. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311407
Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. ...One patient was investiga …
Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae …
Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?
Adib N, Davies K, Grahame R, Woo P, Murray KJ. Adib N, et al. Rheumatology (Oxford). 2005 Jun;44(6):744-50. doi: 10.1093/rheumatology/keh557. Epub 2005 Feb 22. Rheumatology (Oxford). 2005. PMID: 15728418
Clinical features are felt to have much in common with more severe disorders, including Ehlers-Danlos syndrome (EDS), osteogenesis imperfecta and Marfan syndrome, although this has not been formally studied in children. ...The average age …
Clinical features are felt to have much in common with more severe disorders, including Ehlers-Danlos syndrome (EDS), …