Marini JC - Search Results

1

Osteogenesis imperfecta: prospects for molecular therapeutics.

Forlino A, Marini JC. Forlino A, et al. Among authors: marini jc. Mol Genet Metab. 2000 Sep-Oct;71(1-2):225-32. doi: 10.1006/mgme.2000.3039. Mol Genet Metab. 2000. PMID: 11001814 Review.

2

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.

Kaler SG, Garrity AM, Stern HJ, Rosenbaum KN, Orrison BM, Marini JC, Bernardini I, Saal HM. Kaler SG, et al. Among authors: marini jc. Am J Med Genet. 1992 Aug 1;43(6):983-8. doi: 10.1002/ajmg.1320430615. Am J Med Genet. 1992. PMID: 1415349

3

Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis.

Grange DK, Lewis MB, Marini JC. Grange DK, et al. Among authors: marini jc. Am J Med Genet. 1990 Jun;36(2):258-64. doi: 10.1002/ajmg.1320360223. Am J Med Genet. 1990. PMID: 2368816

4

Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.

Marini JC, Grange DK, Gottesman GS, Lewis MB, Koeplin DA. Marini JC, et al. J Biol Chem. 1989 Jul 15;264(20):11893-900. J Biol Chem. 1989. PMID: 2745420 Free article.

5

Osteogenesis imperfecta: comprehensive management.

Marini JC. Marini JC. Adv Pediatr. 1988;35:391-426. Adv Pediatr. 1988. PMID: 3055864 Review. No abstract available.

6

Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.

Wang Q, Orrison BM, Marini JC. Wang Q, et al. Among authors: marini jc. J Biol Chem. 1993 Nov 25;268(33):25162-7. J Biol Chem. 1993. PMID: 7693712 Free article.

7

Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

Marini JC, Lewis MB, Wang Q, Chen KJ, Orrison BM. Marini JC, et al. J Biol Chem. 1993 Feb 5;268(4):2667-73. J Biol Chem. 1993. PMID: 8094076 Free article.

8

The growth hormone and somatomedin axis in short children with osteogenesis imperfecta.

Marini JC, Bordenick S, Heavner G, Rose S, Hintz R, Rosenfeld R, Chrousos GP. Marini JC, et al. J Clin Endocrinol Metab. 1993 Jan;76(1):251-6. doi: 10.1210/jcem.76.1.8421094. J Clin Endocrinol Metab. 1993. PMID: 8421094

9

Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.

Marini JC, Lewis MB, Chen K. Marini JC, et al. Am J Med Genet. 1993 Jan 15;45(2):241-5. doi: 10.1002/ajmg.1320450217. Am J Med Genet. 1993. PMID: 8456809

10

Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta.

Marini JC, Bordenick S, Heavner G, Rose S, Chrousos GP. Marini JC, et al. Am J Med Genet. 1993 Jan 15;45(2):261-4. doi: 10.1002/ajmg.1320450223. Am J Med Genet. 1993. PMID: 8456815

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