Prof. Joan Carol Marini M.D., PH.D
Geneticist | Clinical Genetics (M.D.)
9000 Rockville Pike Bldg. 10; Rm 10d39 Bethesda MD, 20892About
Dr. Joan Marini practices Genetic Medicine in Bethesda, MD. As a geneticist, Dr. Marini performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Marini carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Johns Hopkins University School of Medicine 1978
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.
- Evaluation of oral problems in an osteogenesis imperfecta population.
- Osteogenesis imperfecta calls for caution.
- Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV.
- Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice.
- Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy.
- Osteogenesis imperfecta: prospects for molecular therapeutics.
- Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts.
- 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.
- G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.
- Genetic risk factors for lumbar disk disease.
- Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.
- The effect of a ruminal nitrogen (N) deficiency in dairy cows: evaluation of the cornell net carbohydrate and protein system ruminal N deficiency adjustment.
- Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.
- Temperament and physical performance in children with osteogenesis imperfecta.
Prof. Joan Carol Marini M.D., PH.D's Practice location
Practice At 9000 Rockville Pike Bldg. 10; Rm 10d39
9000 Rockville Pike Bldg. 10; Rm 10d39 -Bethesda, MD 20892Get Direction
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