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

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

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagenPRUCHNO, C. J; COHN, D. H; WALLIS, G. A et al.Human genetics. 1991, Vol 87, Num 1, pp 33-40, issn 0340-6717Article

Heterogeneous basis of the type VIB form of ehlers-danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylationWALKER, L. C; OVERSTREET, M. A; WILLING, M. C et al.American journal of medical genetics. 2004, Vol 131A, Num 2, pp 155-162, issn 0148-7299, 8 p.Article

Osteogenesis imperfecta type I : molecular heterogeneity for COL1A1 null alleles of type I collagenWILLING, M. C; DESCHENES, S. P; SCOTT, D. A et al.American journal of human genetics. 1994, Vol 55, Num 4, pp 638-647, issn 0002-9297Article

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutationsTRAN-FADULU, V; PANNU, H; WILLING, M. C et al.Journal of medical genetics. 2009, Vol 46, Num 9, pp 607-613, issn 0022-2593, 7 p.Article

Osteocalcin : Genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosisRAYMOND, M. H; SCHUTTE, B. C; TORNER, J. C et al.Genomics (San Diego, Calif.). 1999, Vol 60, Num 2, pp 210-217, issn 0888-7543Article

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)WENSTRUP, R. J; LANGLAND, G. T; WILLING, M. C et al.Human molecular genetics (Print). 1996, Vol 5, Num 11, pp 1733-1736, issn 0964-6906Article

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type IWILLING, M. C; SLAYTON, R. L; PITTS, S. H et al.Journal of medical genetics. 1995, Vol 32, Num 9, pp 697-700, issn 0022-2593Article

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagenWILLING, M. C; PRUCHNO, C. J; ATKINSON, M et al.American journal of human genetics. 1992, Vol 51, Num 3, pp 508-515, issn 0002-9297Article

Genome-wide Association Scan for Childhood Caries Implicates Novel GenesSHAFFER, J. R; WANG, X; LAURIE, C. C et al.Journal of dental research. 2011, Vol 90, Num 12, pp 1457-1462, issn 0022-0345, 6 p.Article

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsWILLING, M. C; DESCHENES, S. P; SLAYTON, R. L et al.American journal of human genetics. 1996, Vol 59, Num 4, pp 799-809, issn 0002-9297Article

Molecular heterogeneity in osteogenesis imperfecta type IWILLING, M. C; PRUCHNO, C. J; BYERS, P. H et al.American journal of medical genetics. 1993, Vol 45, Num 2, pp 223-227, issn 0148-7299Conference Paper

Osteogenesis imperfecta : translation of utation to phenotypeBYERS, P. H; WALLIS, G. A; WILLING, M. C et al.Journal of medical genetics. 1991, Vol 28, Num 7, pp 433-442, issn 0022-2593Article

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Proα1(I) chain and results in osteogenesis imperfecta type IWILLING, M. C; COHN, D. H; BYERS, P. H et al.The Journal of clinical investigation. 1990, Vol 85, Num 1, pp 282-290, issn 0021-9738Article

Heterozygosity for a large deletion in the α2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfectaWILLING, M. C; COHN, D. H; STARMAN, B et al.The Journal of biological chemistry (Print). 1988, Vol 263, Num 17, pp 8398-8404, issn 0021-9258Article