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Joan Marini
Joan Marini
Senior Investigator, NICHD, NIH
Verified email at cc1.nichd.nih.gov
Title
Cited by
Cited by
Year
Osteogenesis imperfecta
A Forlino, JC Marini
The Lancet 387 (10028), 1657-1671, 2016
9072016
Osteogenesis imperfecta
JC Marini, WA Cabral
Genetics of bone biology and skeletal disease, 397-420, 2018
8412018
New perspectives on osteogenesis imperfecta
A Forlino, WA Cabral, AM Barnes, JC Marini
Nature Reviews Endocrinology 7 (9), 540-557, 2011
8272011
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and …
JC Marini, A Forlino, WA Cabral, AM Barnes, JD San Antonio, S Milgrom, ...
Human mutation 28 (3), 209-221, 2007
7892007
Bent helical structure in kinetoplast DNA
JC Marini, SD Levene, DM Crothers, PT Englund
Proceedings of the National Academy of Sciences 79 (24), 7664-7668, 1982
7881982
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
WA Cabral, W Chang, AM Barnes, MA Weis, MA Scott, S Leikin, ...
Nature genetics 39 (3), 359-365, 2007
5482007
The burden of musculoskeletal conditions at the start of the new millennium
WHO Scientific Group on the Burden of Musculoskeletal Conditions at the ...
World Health Organization technical report series 919, i, 2003
430*2003
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
AM Barnes, W Chang, R Morello, WA Cabral, MA Weis, DR Eyre, S Leikin, ...
New England Journal of Medicine 355 (26), 2757-2764, 2006
4092006
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates
SM Sweeney, JP Orgel, A Fertala, JD McAuliffe, KR Turner, GA Di Lullo, ...
Journal of biological chemistry 283 (30), 21187-21197, 2008
3342008
The molecular biology of trypanosomes
PT Englund, SL Hajduk, JC Marini
Annual review of biochemistry 51 (1), 695-726, 1982
3151982
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
2982013
Evaluation of oral problems in an osteogenesis imperfecta population
AC O’connell, JC Marini
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and …, 1999
2841999
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short‐term functional improvement
AD Letocha, HL Cintas, JF Troendle, JC Reynolds, CE Cann, EJ Chernoff, ...
Journal of Bone and Mineral Research 20 (6), 977-986, 2005
2572005
New genes in bone development: what's new in osteogenesis imperfecta
JC Marini, AR Blissett
The Journal of Clinical Endocrinology & Metabolism 98 (8), 3095-3103, 2013
2432013
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
AM Barnes, EM Carter, WA Cabral, MA Weis, W Chang, E Makareeva, ...
New England Journal of Medicine 362 (6), 521-528, 2010
2102010
Decatenation of kinetoplast DNA by topoisomerases.
JC Marini, KG Miller, PT Englund
The Journal of Biological Chemistry 255 (11), 4976-4979, 1980
1961980
Do bisphosphonates make children's bones better or brittle?
JC Marini
New England Journal of Medicine 349 (5), 423-426, 2003
1762003
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an α1 (I) G349C substitution: variability in phenotype in …
A Forlino, FD Porter, EJ Lee, H Westphal, JC Marini
Journal of Biological Chemistry 274 (53), 37923-37931, 1999
1681999
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation
JC Marini, A Reich, SM Smith
Current opinion in pediatrics 26 (4), 500-507, 2014
1662014
Physical characterization of a kinetoplast DNA fragment with unusual properties.
JC Marini, PN Effron, TC Goodman, CK Singleton, RD Wells, RM Wartell, ...
Journal of Biological Chemistry 259 (14), 8974-8979, 1984
1571984
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