AAAAAA
Results:
1-14
|
Results: 14
Authors:
Cabral, WA
Chernoff, EJ
Marini, JC
Citation: Wa. Cabral et al., G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha 1(I) chain and alters folding of the N-terminal end of the helix, MOL GEN MET, 72(4), 2001, pp. 326-335
Authors:
Marini, JC
Citation: Jc. Marini, Genetic risk factors for lumbar disk disease, J AM MED A, 285(14), 2001, pp. 1886-1888
Authors:
Bouma, P
Cabral, WA
Cole, WG
Marini, JC
Citation: P. Bouma et al., COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II, J BIOL CHEM, 276(16), 2001, pp. 13356-13364
Authors:
Forlino, A
Marini, JC
Citation: A. Forlino et Jc. Marini, Osteogenesis imperfecta: Prospects for molecular therapeutics, MOL GEN MET, 71(1-2), 2000, pp. 225-232
Authors:
Dawson, PA
Marini, JC
Citation: Pa. Dawson et Jc. Marini, Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts, NUCL ACID R, 28(20), 2000, pp. 4013-4020
Authors:
Vieira, NE
Goans, RE
Weiss, GH
Hopkins, E
Marini, JC
Yergey, AL
Citation: Ne. Vieira et al., Calcium kinetics in children with osteogenesis imperfecta type III and IV:Pre- and post-growth hormone therapy, CALCIF TIS, 67(2), 2000, pp. 97-100
Authors:
Dawson, PA
Marini, JC
Citation: Pa. Dawson et Jc. Marini, Osteogenesis imperfecta, GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 75-93
Authors:
Vieira, NE
Marini, JC
Hopkins, E
Abrams, SA
Yergey, AL
Citation: Ne. Vieira et al., Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV, BONE, 25(4), 1999, pp. 501-505
Authors:
Walker, LC
Marini, JC
Grange, DK
Filie, J
Yeowell, HN
Citation: Lc. Walker et al., A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene, MOL GEN MET, 67(1), 1999, pp. 74-82
Authors:
O'Connell, AC
Marini, JC
Citation: Ac. O'Connell et Jc. Marini, Evaluation of oral problems in an osteogenesis imperfecta population, ORAL SURG O, 87(2), 1999, pp. 189-196
Authors:
Marini, JC
Citation: Jc. Marini, Osteogenesis imperfecta calls for caution, NAT MED, 5(5), 1999, pp. 466-466
Authors:
Dawson, PA
Kelly, TE
Marini, JC
Citation: Pa. Dawson et al., Extension of phenotype associated with structural mutations in type T collagen: Siblings with juvenile osteoporosis have an alpha 2(I)Gly436 -> Arg substitution, J BONE MIN, 14(3), 1999, pp. 449-455
Authors:
Forlino, A
Porter, FD
Lee, EJ
Westphal, H
Marini, JC
Citation: A. Forlino et al., Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha 1(I) G349C substitution - Variability in phenotype in BrtlIV mice, J BIOL CHEM, 274(53), 1999, pp. 37923-37931
Authors:
Forlino, A
Keene, DR
Schmidt, K
Marini, JC
Citation: A. Forlino et al., An alpha 2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of Osteogenesis Imperfecta, MATRIX BIOL, 17(8-9), 1998, pp. 575-584
Risultati:
1-14
|