Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiencyWENSTRUP, R. J; SAOOD MURAD; PINNELL, S. R et al.The Journal of pediatrics. 1989, Vol 115, Num 3, pp 405-409, issn 0022-3476, 5 p., 0Article

Osteogenesis imperfecta type IV: biochemical confirmation of genetic linkage to the proα2(1) gene of type I collagenWENSTRUP, R. J; TSIPOURAS, P; BYERS, P. H et al.The Journal of clinical investigation. 1986, Vol 78, Num 6, pp 1449-1455, issn 0021-9738Article

Female pseudohermaphroditism with anorectal, müllerian duct, and urinary tract malformations: report of four casesWENSTRUP, R. J; PAGON, R. A.The Journal of pediatrics. 1985, Vol 107, Num 5, pp 751-754, issn 0022-3476Article

Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfectaSMICUN, Y; KILPATRICK, M. W; FLORER, J et al.Gene therapy (Basingstoke). 2003, Vol 10, Num 24, pp 2005-2012, issn 0969-7128, 8 p.Article

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagenWENSTRUP, R. J; HUNTER, A. G. W; BYERS, P. H et al.Human genetics. 1986, Vol 74, Num 1, pp 47-53, issn 0340-6717Article

Skeletal aspects of Gaucher disease: a reviewWENSTRUP, R. J; ROCA-ESPIAU, M; WEINREB, N. J et al.British journal of radiology. 2002, Vol 75, pp A2-A12, issn 0007-1285, SUP1Conference Paper

Sequence analysis of a full-strength cDNA for the murine proα2(I) collagen chain : comparison of the derived primary structure with human proα2(I) collagenPHILLIPS, C. L; MORGAN, A. L; LEVER, L. W et al.Genomics (San Diego, Calif.). 1992, Vol 13, Num 4, pp 1345-1346, issn 0888-7543Article

A substitution at a non-glycine position in the triple-helical domain of proα2(I) collagen chains present in an individual with a variant of the Marfan syndromePHILLIPS, C. L; SHRAGO-HOWE, A. W; PINNELL, S. R et al.The Journal of clinical investigation. 1990, Vol 86, Num 5, pp 1723-1728, issn 0021-9738Article

DNA sequence analysis and restriction fragment lenght polymorphism (RFLP) typing of the HLA-DQw2 alleles associated with dermatitis herpetiformisOTLEY, C. C; WENSTRUP, R. J; HALL, R. P et al.Journal of investigative dermatology. 1991, Vol 97, Num 2, pp 318-322, issn 0022-202XArticle

Molecular analysis of the mitochondrial 12S rRNA and tRNA^Ser(UCN) genes in paediatric subjects with non-syndromic hearing lossLI, R; GREINWALD, J. H; YANG, L et al.Journal of medical genetics. 2004, Vol 41, Num 8, pp 615-620, issn 0022-2593, 6 p.Article

The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblastsATIT, R. P; CROWE, M. J; GREENHALGH, D. G et al.Journal of investigative dermatology. 1999, Vol 112, Num 6, pp 835-842, issn 0022-202XArticle

Gaucher disease : a prototype for molecular medicineGRABOWSKI, G. A; SAAL, H. M; WENSTRUP, R. J et al.Critical reviews in oncology/hematology. 1996, Vol 23, Num 1, pp 25-55, issn 1040-8428Article

An HLA class II region restriction fragment length polymorphism (RFLP) in patients with dermatitis herpetiformis : association with HLA-DP phenotypeHALL, R. P; WARD, F. E; WENSTRUP, R. J et al.Journal of investigative dermatology. 1990, Vol 95, Num 2, pp 172-177, issn 0022-202XArticle

Bone complications in children with Gaucher diseaseBEMBI, B; CIANA, G; MENGEL, E et al.British journal of radiology. 2002, Vol 75, pp A37-A43, issn 0007-1285, SUP1Conference Paper

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemaVAN HOVE, J. L. K; PRIYA KISHNANI; MUENZER, J et al.American journal of medical genetics. 1995, Vol 59, Num 4, pp 444-453, issn 0148-7299Article

Construction of a full-length murine proα2(I) collagen cDNA by the polymerase chain reactionPHILLIPS, C. L; LEVER, L. W; PINNELL, S. R et al.Journal of investigative dermatology. 1991, Vol 97, Num 6, pp 980-984, issn 0022-202XArticle

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfectaWENSTRUP, R. J; WILLING, M. C; STARMAN, B. J et al.American journal of human genetics. 1990, Vol 46, Num 5, pp 975-982, issn 0002-9297, 8 p.Article

Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancySTEPHAN, M. J; STEVENS, E. L; WENSTRUP, R. J et al.American journal of diseases of children (1960). 1989, Vol 143, Num 7, pp 782-784, issn 0002-922X, 3 p.Article

Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type IMICHALICKOVA, K; SUSIC, M; WILLING, M. C et al.Human molecular genetics (Print). 1998, Vol 7, Num 2, pp 249-255, issn 0964-6906Article

Defective proα2(I) collagen synthesis in a recessive mutation in mice : a model of human osteogenesis imperfectaCHIPMAN, S. D; SWEET, H. O; MCBRIDE, D. J et al.Proceedings of the National Academy of Sciences of the United States of America. 1993, Vol 90, Num 5, pp 1701-1705, issn 0027-8424Article

Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfectaWENSTRUP, R. J; LEVER, L. W; PHILLIPS, C. L et al.American journal of medical genetics. 1993, Vol 45, Num 2, pp 228-232, issn 0148-7299Conference Paper

Distinct proliferative and differentiated stages of murine MC3T3-E1 cells in culture : an in vitro model of osteoblast developmentQUARLES, L. D; YOHAY, D. A; LEVER, L. W et al.Journal of bone and mineral research (Print). 1992, Vol 7, Num 6, pp 683-692, issn 0884-0431Article

The effects of different cysteine for glycine substitutions within α2(I) chains : evidence of distinct structural domains within the type I collagen triple helixWENSTRUP, R. J; SHRAGO-HOWE, A. W; LEVER, L. W et al.The Journal of biological chemistry (Print). 1991, Vol 266, Num 4, pp 2590-2594, issn 0021-9258, 5 p.Article

Arginine for glycine substitution in the triple-helical domain of the products of one α2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotypeWENSTRUP, R. J; COHN, D. H; COHEN, T et al.The Journal of biological chemistry (Print). 1988, Vol 263, Num 16, pp 7734-7740, issn 0021-9258, 7 p.Article

Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III : A report of five casesTILLER, G. E; CASSIDY, S. B; WENSEL, C et al.Clinical genetics. 1998, Vol 53, Num 6, pp 460-465, issn 0009-9163Article