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1

Osteogenesis imperfecta

Marini, Joan C., Forlino, Antonella, Bächinger, Hans Peter, Bishop, Nick J., Byers, Peter H., Paepe, Anne De, Fassier, Francois, Fratzl-Zelman, Nadja, Kozloff, Kenneth M., Krakow, Deborah, Montpetit,

Journal:

Nature Reviews Disease Primers

Year:

2017

Language:

english

File:

PDF, 6.04 MB

english, 2017

2

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

Marini, Joan C., Blissett, Angela R.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 417 KB

english, 2013

3

Ribozymes: Structure, Function and Potential Therapy for Dominant Genetic Disorders

Grassi, Gabriele, Marini, Joan C.

Journal:

Annals of Medicine

Year:

1996

Language:

english

File:

PDF, 1.23 MB

english, 1996

4

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

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, Dan

Journal:

Journal of Bone and Mineral Research

Year:

2010

Language:

english

File:

PDF, 427 KB

english, 2010

5

Genetics of Bone Biology and Skeletal Disease || Osteogenesis Imperfecta

Marini, Joan C.

Year:

2013

Language:

english

File:

PDF, 229 KB

english, 2013

6

Do Bisphosphonates Make Children's Bones Better or Brittle?

Marini, Joan C.

Journal:

Boston Medical and Surgical Journal

Year:

2003

Language:

english

File:

PDF, 99 KB

english, 2003

7

Single dose of bisphosphonate preserves gains in bone mass following cessation of sclerostin antibody in Brtl/+ osteogenesis imperfecta model

Perosky, Joseph E., Khoury, Basma M., Jenks, Terese N., Ward, Ferrous S., Cortright, Kai, Meyer, Bethany, Barton, David K., Sinder, Benjamin P., Marini, Joan C., Caird, Michelle S., Kozloff, Kenneth M

Journal:

Year:

2016

Language:

english

File:

PDF, 1.70 MB

english, 2016

8

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

Dr. Joan C. Marini, Stephanie Bordenick, Gale Heavner, Susan Rose, George P. Chrousos

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 405 KB

english, 1993

9

Characterization of Point Mutations in Type I Collagen by RNA/RNA Hybrid Analysis

JOAN C. MARINI, DOROTHY K. GRANGE, GARY S. GOTTESMAN, MARY BETH LEWIS

Journal:

Annals of the New York Academy of Sciences

Year:

1990

Language:

english

File:

PDF, 299 KB

english, 1990

10

Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment

Sinder, Benjamin P., Salemi, Joseph D., Ominsky, Michael S., Caird, Michelle S., Marini, Joan C., Kozloff, Kenneth M.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

11

Comprehensive rehabilitation of the child with osteogenesis imperfecta

Helga Binder, Ann Conway, Stephen Hason, Lynn H. Gerber, Joan Marini, Roger Berry, Joan Weintrob

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.24 MB

english, 1993

12

Ophthalmologic Examinadon in the Diagnosis of Proteus Syndrome

Bouzas, Evrydiki A., Krasnewich, Donna, Koutroumanidis, Michael, Papadimitriou, Alexandros, Marini, Joan C., Kaiser-Kupfer, Muriel I.

Journal:

Year:

1993

Language:

english

File:

PDF, 4.67 MB

english, 1993

13

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

Joan C Marini, Elizabeth Hopkins, Francis H Glorieux, George P Chrousos, James C Reynolds, Caren M Gundberg, C Michael Reing

Journal:

Journal of Bone and Mineral Research

Year:

2003

Language:

english

File:

PDF, 179 KB

english, 2003

14

Controlled Trial of Pamidronate in Children With Types III and IV Osteogenesis Imperfecta Confirms Vertebral Gains but Not Short-Term Functional Improvement

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

Journal:

Journal of Bone and Mineral Research

Year:

2005

Language:

english

File:

PDF, 140 KB

english, 2005

15

Presence of a bent helix in fragments of kinetoplast DNA minicircles from several trypanosomatid species

James M. Ntambi, Joan C. Marini, James D. Bangs, Stephen L. Hajduk, Hector E. Jimenez, Peter A. Kitchin, Viiu A. Klein, Kathleen A. Ryan, Paul T. Englund

Journal:

Molecular and Biochemical Parasitology

Year:

1984

Language:

english

File:

PDF, 877 KB

english, 1984

16

Osteogenesis Imperfecta: Prospects for Molecular Therapeutics

Antonella Forlino, Joan C. Marini

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

17

Structure, stability and interactions of type I collagen with GLY349-CYS substitution in α1(I) chain in a murine Osteogenesis Imperfecta model

Natalia V Kuznetsova, Antonella Forlino, Wayne A Cabral, Joan C Marini, Sergey Leikin

Journal:

Year:

2004

Language:

english

File:

PDF, 765 KB

english, 2004

18

Selective retention and degradation of molecules with a single mutant α1(I) chain in the Brtl IV mouse model of OI

Antonella Forlino, Natalia V. Kuznetsova, Joan C. Marini, Sergey Leikin

Journal:

Year:

2007

Language:

english

File:

PDF, 622 KB

english, 2007

19

Development of Gene Therapy for Osteogenesis Imperfecta Using Hammerhead Ribozymes and a Knock-In Mouse Model of OI

Marini, Joan C, Forlino, Antonella, Dawson, Paul A

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

20

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion

Roberta, Besio, Giusy, Iula, Nadia, Garibaldi, Lina, Cipolla, Simone, Sabbioneda, Marco, Biggiogera, Marini Joan, C., Antonio, Rossi, Antonella, Forlino

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2018

Language:

english

File:

PDF, 14.72 MB

english, 2018

21

Sclerostin Antibody‐Induced Changes in Bone Mass are Site Specific in Developing Crania

Scheiber, Amanda L., Barton, David K., Khoury, Basma M., Marini, Joan C., Swiderski, Donald L., Caird, Michelle S., Kozloff, Kenneth M.

Journal:

Journal of Bone and Mineral Research

Year:

2019

Language:

english

File:

PDF, 2.99 MB

english, 2019

22

Developmental expression of the proenkephalin and prosomatostatin genes in cultured cortical and cerebellar astrocytes

Hisaharu Shinoda, Ann M. Marini, Joan P. Schwartz

Journal:

Developmental Brain Research

Year:

1992

Language:

english

File:

PDF, 719 KB

english, 1992

23

Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type V bone indicate exuberant primary bone formation

Blouin, Stéphane, Fratzl-Zelman, Nadja, Glorieux, Francis H, Roschger, Paul, Klaushofer, Klaus, Marini, Joan C., Rauch, Frank

Journal:

Journal of Bone and Mineral Research

Year:

2017

Language:

english

File:

PDF, 742 KB

english, 2017

24

Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation

Abimbola A. Obafemi, Dorothy I. Bulas, James Troendle, Joan C. Marini

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

25

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta

Rousseau, Julie, Gioia, Roberta, Layrolle, Pierre, Lieubeau, Blandine, Heymann, Dominique, Rossi, Antonio, Marini, Joan C, Trichet, Valerie, Forlino, Antonella

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.28 MB

english, 2014

26

Book Review The Skeleton: Biochemical, Genetic, and Molecular Interactions in Development and Homeostasis Edited by Edward J. Massaro and John M. Rogers. 428 pp., illustrated. Totowa, N.J., Humana Press, 2004. $150. 1-58829-215-0

Marini, Joan C.

Journal:

Boston Medical and Surgical Journal

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

27

Mineral and Matrix Changes in Brtl/+ Teeth Provide Insights into Mineralization Mechanisms

Boskey, Adele L., Verdelis, Kostas, Spevak, Lyudmila, Lukashova, Lyudmila, Beniash, Elia, Yang, Xu, Cabral, Wayne A., Marini, Joan C.

Journal:

BioMed Research International

Year:

2013

Language:

english

File:

PDF, 2.74 MB

english, 2013

28

A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband

Jane D. Filie, Bonnie M. Orrison, Qin Wang, Mary Beth Lewis, Joan C. Marini

Journal:

Year:

1993

Language:

english

File:

PDF, 839 KB

english, 1993

29

High carrier frequency for recessive OI in West Africans

Wayne A. Cabral, Aileen M. Barnes, Charles N. Rotimi, Lawrence Brody, Joan Bailey-Wilson, Susan R. Panny, David Chitayat, Forbes D. Porter, Joan C. Marini

Journal:

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

30

Osteogenesis Imperfecta — Managing Brittle Bones

Marini, Joan C.

Journal:

Boston Medical and Surgical Journal

Year:

1998

Language:

english

File:

PDF, 162 KB

english, 1998

31

Components of the Collagen Prolyl 3-Hydroxylation Complex are Crucial for Normal Bone Development

Marini, Joan C., Cabral, Wayne A., Barnes, Aileen M., Chang, Weizhong

Journal:

Year:

2007

Language:

english

File:

PDF, 1.18 MB

english, 2007

32

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

Antonella Forlino, Chiara Tani, Antonio Rossi, Anna Lupi, Elena Campari, Benedetta Gualeni, Laura Bianchi, Alessandro Armini, Giuseppe Cetta, Luca Bini, Joan C. Marini

Journal:

Year:

2007

Language:

english

File:

PDF, 433 KB

english, 2007

33

Null mutations inLEPRE1andCRTAPcause severe recessive osteogenesis imperfecta

Joan C. Marini, Wayne A. Cabral, Aileen M. Barnes

Journal:

Cell and Tissue Research

Year:

2010

Language:

english

File:

PDF, 206 KB

english, 2010

34

Failure of surgery and isotretinoin to relieve jaw immobilization in fibrodysplasia ossificans progressiva: Report of two cases

Crofford, Leslie J., Brahim, Jaime S., Zasloff, Michael A., Marini, Joan C.

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

1990

Language:

english

File:

PDF, 1.37 MB

english, 1990

35

Low dose of bisphosphonate enhances sclerostin antibody-induced trabecular bone mass gains in Brtl/+ osteogenesis imperfecta mouse model

Olvera, Diana, Stolzenfeld, Rachel, Marini, Joan C., Caird, Michelle S., Kozloff, Kenneth M.

Journal:

Journal of Bone and Mineral Research

Year:

2018

Language:

english

File:

PDF, 1021 KB

english, 2018

36

Cyclophilin B deficiency causes abnormal dentin collagen matrix

Terajima, Masahiko, Taga, Yuki, Cabral, Wayne A., Nagasawa, Masako, Sumida, Noriko, Hattori, Shunji, Marini, Joan C., Yamauchi, Mitsuo

Journal:

Journal of Proteome Research

Year:

2017

Language:

english

File:

PDF, 2.06 MB

english, 2017

37

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

Adriana P. Sarafova, Hyeon Choi, Antonella Forlino, Anna Gajko, Wayne A. Cabral, Laura Tosi, C. Michael Reing, Joan C. Marini

Journal:

Year:

1998

Language:

english

File:

PDF, 307 KB

english, 1998

38

Type V OI Primary Osteoblasts Display Increased Mineralization Despite Decreased COL1A1 Expression

Reich, Adi, Bae, Alison S., Barnes, Aileen M., Cabral, Wayne A., Hinek, Aleksander, Stimec, Jennifer, Hill, Suvimol C., Chitayat, David, Marini, Joan C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

39

Replenishing Cartilage from Endogenous Stem Cells

Marini, Joan C., Forlino, Antonella

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

40

The isolation of restriction fragments containing the primary and secondary (ga/T) bacterial att sites of phage λ

Joan C. Marini, Robert Weisberg, Arthur Landy

Journal:

Year:

1977

Language:

english

File:

PDF, 6.40 MB

english, 1977

41

Osteogenesis ImperfectaRehabilitation and Prospects for Gene Therapy

Marini, Joan C.

Journal:

JAMA The Journal of the American Medical Association

Year:

1997

Language:

english

File:

PDF, 1.65 MB

english, 1997

42

Frontiers in Rehabilitation Medicine: Osteogenesis Imperfecta, Overview of a Conference

Byers, Peter H., Marini, Joan C., Gerber, Lynn

Journal:

Connective Tissue Research

Year:

1995

Language:

english

File:

PDF, 294 KB

english, 1995

43

Bone mineral properties in growing Col1a2+/G610C mice, an animal model of osteogenesis imperfecta

Masci, Marco, Wang, Min, Imbert, Laurianne, Barnes, Aileen M., Spevak, Lyudmila, Lukashova, Lyudmila, Huang, Yihe, Ma, Yan, Marini, Joan C., Jacobsen, Christina M., Warman, Matthew L., Boskey, Adele L

Journal:

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

44

Melorheostosis

Fick, Cameron N., Fratzl-Zelman, Nadja, Roschger, Paul, Klaushofer, Klaus, Jha, Smita, Marini, Joan C., Bhattacharyya, Timothy

Journal:

American Journal of Surgical Pathology

Year:

2019

File:

PDF, 399 KB

2019

45

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

Stephen G. Kaler, Ann M. Garrity, Harvey J. Stern, Kenneth N. Rosenbaum, Bonnie M. Orrison, Joan C. Marini, Isa Bernardini, Howard M. Saal

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 585 KB

english, 1992

46

Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype

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

Journal:

Year:

2007

Language:

english

File:

PDF, 479 KB

english, 2007

47

An approach to gene therapy of dominant disorders of structural proteins using antisense suppression of the mutant allele

Marini, Joan C., Wang, Qin

Journal:

Year:

1994

Language:

english

File:

PDF, 86 KB

english, 1994

48

A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

Farber, Charles R, Reich, Adi, Barnes, Aileen M, Becerra, Patricia, Rauch, Frank, Cabral, Wayne A, Bae, Alison, Quinlan, Aaron, Glorieux, Francis H, Clemens, Thomas L, Marini, Joan C

Journal:

Journal of Bone and Mineral Research

Year:

2014

Language:

english

File:

PDF, 3.67 MB

english, 2014

49

Rehabilitation of Children and Infants With Osteogenesis Imperfecta

GERBER, LYNN H., BINDER, HELGA, WEINTROB, JOAN, GRANGE, DOROTHY K., SHAPIRO, JAY, FROMHERZ, WILLIAM, BERRY, ROGER, CONWAY, ANN, NASON, STEPHEN, MARINI, JOAN

Journal:

Clinical Orthopaedics and Related Research®

Year:

1990

File:

PDF, 630 KB

1990

50

Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength

Kenneth M Kozloff, Angela Carden, Clemens Bergwitz, Antonella Forlino, Thomas E Uveges, Michael D Morris, Joan C Marini, Steven A Goldstein

Journal:

Journal of Bone and Mineral Research

Year:

2004

Language:

english

File:

PDF, 331 KB

english, 2004

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