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Joan Marini

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Benjamin P Sinder; Michelle S Caird; Mary M Eddy; Joan C Marini; Michael S Ominsky; Kenneth M Kozloff
Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta.
Aileen M Barnes; Wayne A Cabral; David R Eyre; Sergey Leikin; Elena Makareeva; Edward L Mertz; Carlos Trujillo; MaryAnn Weis; Joan C Marini
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Roberta Gioia; Joan C Marini; Giampaolo Merlini; Giovanni Palladini; Cristina Panaroni; Antonio Rossi; Ivana A Scovassi; Ruggero Tenni; Paolo Vezzoni; Anna Villa; Isabella Villa; Simona Villani; Roberta Besio; Vincenzo Giansanti; Antonella Forlino
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy.

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2013: Benjamin P Sinder; Michelle S Caird; Mary M Eddy; Joan C Marini; Michael S Ominsky; Kenneth M Kozloff
Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2013;28(1):73-80.
2012: Aileen M Barnes; Wayne A Cabral; David R Eyre; Sergey Leikin; Elena Makareeva; Edward L Mertz; Carlos Trujillo; MaryAnn Weis; Joan C Marini
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Human mutation 2012;33(11):1589-98.
2012: Roberta Gioia; Joan C Marini; Giampaolo Merlini; Giovanni Palladini; Cristina Panaroni; Antonio Rossi; Ivana A Scovassi; Ruggero Tenni; Paolo Vezzoni; Anna Villa; Isabella Villa; Simona Villani; Roberta Besio; Vincenzo Giansanti; Antonella Forlino
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy.
Stem cells (Dayton, Ohio) 2012;30(7):1465-76.
2012: Joan C Marini; Antonella Forlino
Replenishing cartilage from endogenous stem cells.
The New England journal of medicine 2012;366(26):2522-4.
2012: Wayne A Cabral; David Chitayat; Kelly Cushing; Serigne M Gueye; Fizza Gulamali-Majid; Adebowale Adeyemo; Joan E Bailey-Wilson; Aileen M Barnes; Lawrence C Brody; SUSAN PANNY; Forbes D Porter; Timothy R Rebbeck; Charles N Rotimi; Sarah A Tishkoff; Joan C Marini
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(5):543-51.
2012: Mathieu S Davis; Bethany L Kovacic; Joan C Marini; Albert J Shih; Kenneth M Kozloff
Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta.
Bone 2012;50(3):784-91.
2011: Antonella Forlino; Aileen M Barnes; Wayne A Cabral; Joan C Marini
New perspectives on osteogenesis imperfecta.
Nature reviews. Endocrinology 2011;7(9):540-57.
2011: Katarina Lindahl; Aileen M Barnes; Nadja Fratzl-Zelman; Michael P Whyte; Theresa E Hefferan; Elena Makareeva; Marina Brusel; Michael J Yaszemski; Carl-Johan Rubin; Andreas Kindmark; Paul Roschger; Klaus Klaushofer; William H McAlister; Steven Mumm; Sergey Leikin; Efrat Kessler; Adele L Boskey; Osten Ljunggren; Joan C Marini
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Human mutation 2011;32(6):598-609.
2011: Joseph M Wallace; Bradford G Orr; Joan C Marini; Mark M Banaszak Holl
Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta.
Journal of structural biology 2011;173(1):146-52.
2010: Kenneth M Kozloff; Leo I Volakis; Joan C Marini; Michelle S Caird
Near-infrared fluorescent probe traces bisphosphonate delivery and retention in vivo.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(8):1748-58.
2010: Aileen M Barnes; Erin M Carter; Wayne A Cabral; MaryAnn Weis; Weizhong Chang; Elena Makareeva; Sergey Leikin; Charles N Rotimi; David R Eyre; Cathleen L Raggio; Joan C Marini
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
The New England journal of medicine 2010;362(6):521-8.
2010: Ethan Daley; Elizabeth A Streeten; John D Sorkin; Natalia Kuznetsova; Sue A Shapses; Stephanie M. Carleton; Alan R Shuldiner; Joan C Marini; Charlotte L Phillips; Steven A Goldstein; Sergey Leikin; Daniel J McBride
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(2):247-61.
2010: Weizhong Chang; Aileen M Barnes; Wayne A Cabral; Joann N Bodurtha; Joan C Marini
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
Human molecular genetics 2010;19(2):223-34.
2010: Joan C Marini; Wayne A Cabral; Aileen M Barnes
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Cell and tissue research 2010;339(1):59-70.
2009: Joan C Marini
Bone: Use of bisphosphonates in children-proceed with caution.
Nature reviews. Endocrinology 2009;5(5):241-3.
2009: Thomas E Uveges; Kenneth M Kozloff; Jennifer M Ty; Felicia Ledgard; Cathleen L Raggio; Gloria Gronowicz; Steven A Goldstein; Joan C Marini
Alendronate treatment of the brtl osteogenesis imperfecta mouse improves femoral geometry and load response before fracture but decreases predicted material properties and has detrimental effects on osteoblasts and bone formation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009;24(5):849-59.
2008: Thomas E Uveges; Patricia Collin-Osdoby; Wayne A Cabral; Felicia Ledgard; Leah Goldberg; Clemens Bergwitz; Antonella Forlino; Philip Osdoby; Gloria A Gronowicz; Joan C Marini
Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008;23(12):1983-94.
2008: Abimbola A Obafemi; Dorothy Bulas; James F Troendle; Joan C Marini
Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.
American journal of medical genetics. Part A 2008;146A(21):2725-32.
2008: Elena Makareeva; Edward L Mertz; Natalia V Kuznetsova; Mary B Sutter; Angela M DeRidder; Wayne A Cabral; Aileen M Barnes; Daniel J McBride; Joan C Marini; Sergey Leikin
Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.
The Journal of biological chemistry 2008;283(8):4787-98.
2007: Antonella Forlino; Natalia V Kuznetsova; Joan C Marini; Sergey Leikin
Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI.
Matrix biology : journal of the International Society for Matrix Biology 2007;26(8):604-14.
2007: Joan C Marini; Wayne A Cabral; Aileen M Barnes; Weizhong Chang
Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.
Cell cycle (Georgetown, Tex.) 2007;6(14):1675-81.
2007: Antonella Forlino; Chiara Tani; Antonio Rossi; Anna Lupi; Elena Campari; Benedetta Gualeni; Laura Bianchi; Alessandro Armini; Giuseppe Cetta; Luca Bini; Joan C Marini
Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta.
Proteomics 2007;7(11):1877-91.
2007: Wayne A Cabral; Elena Makareeva; Anne D Letocha; Nina Scribanu; Andrzej Fertala; Andrzej Steplewski; Douglas R Keene; Anton V Persikov; Sergey Leikin; Joan C Marini
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Human mutation 2007;28(4):396-405.
2007: Wayne A Cabral; Weizhong Chang; Aileen M Barnes; MaryAnn Weis; Melissa A Scott; Sergey Leikin; Elena Makareeva; Natalia V Kuznetsova; Kenneth N Rosenbaum; Cynthia J Tifft; Dorothy Bulas; Chahira Kozma; Peter A Smith; David R Eyre; Joan C Marini
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Nature genetics 2007;39(3):359-65.
2007: Joan C Marini; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; James D San Antonio; Sarah Milgrom; James C Hyland; Jarmo Körkkö; Darwin J Prockop; Anne De Paepe; Paul Coucke; Sofie Symoens; Francis H Glorieux; Peter J Roughley; Alan M Lund; Kaija Kuurila-Svahn; Heini Hartikka; Daniel H Cohn; Deborah Krakow; Monica Mottes; Ulrike Schwarze; Diana Chen; Kathleen Yang; Christine Kuslich; James F Troendle; Raymond Dalgleish; Peter H Byers
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 proteoglycans.
Human mutation 2007;28(3):209-21.
2006: Aileen M Barnes; Weizhong Chang; Roy Morello; Wayne A Cabral; MaryAnn Weis; David R Eyre; Sergey Leikin; Elena Makareeva; Natalia V Kuznetsova; Thomas E Uveges; Aarthi Ashok; Armando W Flor; John J Mulvihill; Patrick L Wilson; Usha T Sundaram; Brendan Lee; Joan C Marini
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
The New England journal of medicine 2006;355(26):2757-64.
2006: Wayne A Cabral; S Milgrom; Anne D Letocha; E Moriarty; Joan C Marini
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
Journal of medical genetics 2006;43(8):685-90.
2006: Elena Makareeva; Wayne A Cabral; Joan C Marini; Sergey Leikin
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.
The Journal of biological chemistry 2006;281(10):6463-70.
2006: Joan C Marini
Should children with osteogenesis imperfecta be treated with bisphosphonates?
Nature clinical practice. Endocrinology & metabolism 2006;2(1):14-5.
2005: Anne D Letocha; Holly L Cintas; James F Troendle; James C Reynolds; Christopher E Cann; Edith J Chernoff; Suvimol C Hill; Lynn H Gerber; Joan C Marini
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005;20(6):977-86.
2005: Wayne A Cabral; Elena Makareeva; Alain Colige; Anne D Letocha; Jennifer M Ty; Heather N Yeowell; Gerard Pals; Sergey Leikin; Joan C Marini
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
The Journal of biological chemistry 2005;280(19):19259-69.
2004: Linda C Walker; A S Teebi; Joan C Marini; Anne De Paepe; Fransiska Malfait; Phimon Atsawasuwan; Mitsuo Yamauchi; Heather N Yeowell
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
Molecular genetics and metabolism 2004;83(4):312-21.
2004: Linda C Walker; Mayra A Overstreet; M C Willing; Joan C Marini; Wayne A Cabral; G Pals; J Bristow; Phimon Atsawasuwan; Mitsuo Yamauchi; Heather N Yeowell
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
American journal of medical genetics. Part A 2004;131(2):155-62.
2004: Natalia V Kuznetsova; Antonella Forlino; Wayne A Cabral; Joan C Marini; Sergey Leikin
Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model.
Matrix biology : journal of the International Society for Matrix Biology 2004;23(2):101-12.
2004: Wayne A Cabral; Joan C Marini
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.
American journal of human genetics 2004;74(4):752-60.
2004: Kenneth M Kozloff; Angela Carden; Clemens Bergwitz; Antonella Forlino; Thomas E Uveges; Michael D Morris; Joan C Marini; Steven A Goldstein
Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2004;19(4):614-22.
2003: Joan C Marini
Do bisphosphonates make children's bones better or brittle?
The New England journal of medicine 2003;349(5):423-6.
2003: Wayne A Cabral; Marianna V Mertts; Elena Makareeva; Alain Colige; Mustafa Tekin; Arti Pandya; Sergey Leikin; Joan C Marini
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.
The Journal of biological chemistry 2003;278(12):10006-12.
2003: Joan C Marini; Elizabeth Hopkins; Francis H Glorieux; George Chrousos; James C Reynolds; Caren M Gundberg; C Michael Reing
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2003;18(2):237-43.
2003: STACY SUSKAUER; Holly L Cintas; Joan C Marini; Lynn H Gerber
Temperament and physical performance in children with osteogenesis imperfecta.
Pediatrics 2003;111(2):E153-61.
2002: Wayne A Cabral; Andrzej Fertala; Laura K Green; Jarmo Korkko; Antonella Forlino; Joan C Marini
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 Journal of biological chemistry 2002;277(6):4215-22.
2001: P Bouma; Wayne A Cabral; W G Cole; Joan C Marini
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.
The Journal of biological chemistry 2001;276(16):13356-64.
2001: Wayne A Cabral; E J Chernoff; Joan C Marini
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.
Molecular genetics and metabolism 2001;72(4):326-35.
2000: P A Dawson; Joan C Marini
Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts.
Nucleic acids research 2000;28(20):4013-20.
2000: Antonella Forlino; Joan C Marini
Osteogenesis imperfecta: prospects for molecular therapeutics.
Molecular genetics and metabolism 2000;71(1-2):225-32.
2000: Nancy E Vieira; R E Goans; George H Weiss; Elizabeth Hopkins; Joan C Marini; Alfred L Yergey
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy.
Calcified tissue international 2000;67(2):97-100.
1999: Antonella Forlino; Forbes D Porter; E J Lee; Heiner Westphal; Joan C Marini
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.
The Journal of biological chemistry 1999;274(53):37923-31.
1999: Nancy E Vieira; Joan C Marini; Elizabeth Hopkins; Steven abrams; Alfred L Yergey
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV.
Bone 1999;25(4):501-5.
1999: Linda C Walker; Joan C Marini; D K Grange; J Filie; Heather N Yeowell
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
Molecular genetics and metabolism 1999;67(1):74-82.
1999: P A Dawson; T E Kelly; Joan C Marini
Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1999;14(3):449-55.
1999: A C O'Connell; Joan C Marini
Evaluation of oral problems in an osteogenesis imperfecta population.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 1999;87(2):189-96.
1998: Antonella Forlino; D R Keene; K Schmidt; Joan C Marini
An alpha2(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 biology : journal of the International Society for Matrix Biology 1998;17(8-9):575-84.
1998: A P Sarafova; H Choi; Antonella Forlino; A Gajko; Wayne A Cabral; L Tosi; C M Reing; Joan C Marini
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
Human mutation 1998;11(5):395-403.
1997: Antonella Forlino; E D'amato; M Valli; G Camera; Elizabeth Hopkins; Joan C Marini; Giuseppe Cetta; DA Coviello
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.
Biochemical and molecular medicine 1997;62(1):26-35.
1997: G Grassi; Antonella Forlino; Joan C Marini
Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects.
Nucleic acids research 1997;25(17):3451-8.
1997: Joan C Marini; N L Gerber
Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy.
JAMA : the journal of the American Medical Association 1997;277(9):746-50.
1996: G Grassi; Joan C Marini
Ribozymes: structure, function, and potential therapy for dominant genetic disorders.
Annals of medicine 1996;28(6):499-510.
1996: Q Wang; Antonella Forlino; Joan C Marini
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
The Journal of biological chemistry 1996;271(45):28617-23.
1996: Q Wang; Joan C Marini
Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders.
The Journal of clinical investigation 1996;97(2):448-54.
1995: Joan C Marini; S Bordenick; George Chrousos
Endocrine aspects of growth deficiency in OI.
Connective tissue research 1995;31(4):S55-7.
1995: L R Charnas; Joan C Marini
Neurologic profile in osteogenesis imperfecta.
Connective tissue research 1995;31(4):S23-6.
1995: R E Goans; Steven abrams; Nancy E Vieira; Joan C Marini; M D Perez; Alfred L Yergey
A three-hour measurement to evaluate bone calcium turnover.
Bone 1995;16(1):33-8.
1993: L R Charnas; Joan C Marini
Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta.
Neurology 1993;43(12):2603-8.
1993: Q Wang; B M Orrison; Joan C Marini
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.
The Journal of biological chemistry 1993;268(33):25162-7.
1993: Joan C Marini; M B Lewis; Q Wang; K J Chen; B M Orrison
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.
The Journal of biological chemistry 1993;268(4):2667-73.
1993: Joan C Marini; S Bordenick; G Heavner; S Rose; George Chrousos
Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta.
American journal of medical genetics 1993;45(2):261-4.
1993: Joan C Marini; M B Lewis; K Chen
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
American journal of medical genetics 1993;45(2):241-5.
1993: Joan C Marini; S Bordenick; G Heavner; S Rose; R Hintz; Ronald G Rosenfeld; George Chrousos
The growth hormone and somatomedin axis in short children with osteogenesis imperfecta.
The Journal of clinical endocrinology and metabolism 1993;76(1):251-6.
1993: J D Filie; B M Orrison; Q Wang; M B Lewis; Joan C Marini
A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
Human mutation 1993;2(5):380-8.
1992: Stephen G Kaler; A M Garrity; H J Stern; K N Rosenbaum; B M Orrison; Joan C Marini; Isa Bernardini; Howard M Saal
New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
American journal of medical genetics 1992;43(6):983-8.
1991: Gary S Hoffman; J D Filie; H R Schumacher; E Ortiz-Bravo; M G Tsokos; Joan C Marini; G S Kerr; Q H Ling; D E Trentham
Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.
Arthritis and rheumatism 1991;34(11):1466-75.
1990: D K Grange; G S Gottesman; M B Lewis; Joan C Marini
Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids.
Nucleic acids research 1990;18(14):4227-36.
1990: D K Grange; M B Lewis; Joan C Marini
Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis.
American journal of medical genetics 1990;36(2):258-64.
1990: Leslie J Crofford; Jaime Brahim; Michael Zasloff; Joan C Marini
Failure of surgery and isotretinoin to relieve jaw immobilization in fibrodysplasia ossificans progressiva: report of two cases.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 1990;48(2):204-8.
1989: Joan C Marini; D K Grange; G S Gottesman; M B Lewis; D A Koeplin
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
The Journal of biological chemistry 1989;264(20):11893-900.
1988: Joan C Marini; G S Gottesman; Michael Zasloff
Human and chick alpha 2(I) collagen mRNA: comparison of the 5' end in osteoblasts and fibroblasts.
Biochemistry 1988;27(9):3351-6.
1988: Joan C Marini; S Hill; Michael Zasloff
Dense metaphyseal bands and growth arrest associated with isotretinoin therapy.
American journal of diseases of children (1960) 1988;142(3):316-8.
1988: Joan C Marini
Osteogenesis imperfecta: comprehensive management.
Advances in pediatrics 1988;35():391-426.