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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

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

5

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

Dorothy K. Grange, Mary Beth Lewis, Joan C. Marini

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 755 KB

english, 1990

6

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

7

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

8

Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the α1(I) chain of type I collagen

Dr. Joan C. Marini, Mary Beth Lewis, Kathleen Chen

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 911 KB

english, 1993

9

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

10

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

11

Intractable vasculitis, resorptive osteolysis, and immunity to type i collagen in type viii ehlers-danlos syndrome

Gary S. Hoffman, Jane D. Filie, H. Ralph Schumacher Jr, Esteban Ortiz-Bravo, Maria G. Tsokos, Joan C. Marini, Gail S. Kerr, Quihe Ling, David E. Trentham

Journal:

Arthritis & Rheumatism

Year:

1991

Language:

english

File:

PDF, 2.54 MB

english, 1991

12

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

13

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

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,

Journal:

Year:

2007

Language:

english

File:

PDF, 307 KB

english, 2007

14

Near-infrared fluorescent probe traces bisphosphonate delivery and retention in vivo

Kenneth M Kozloff, Leo I Volakis, Joan C Marini, Michelle S Caird

Journal:

Journal of Bone and Mineral Research

Year:

2010

Language:

english

File:

PDF, 1.01 MB

english, 2010

15

Discovery of isoxazolinone antibacterial agents. Nitrogen as a replacement for the stereogenic center found in oxazolidinone antibacterials

Lawrence B. Snyder, Zhaoxing Meng, Robert Mate, Stanley V. D’Andrea, Anne Marinier, Claude A. Quesnelle, Patrice Gill, Kenneth L. DenBleyker, Joan C. Fung-Tomc, MaryBeth Frosco, Alain Martel, John F.

Journal:

Bioorganic & Medicinal Chemistry Letters

Year:

2004

Language:

english

File:

PDF, 332 KB

english, 2004

16

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

17

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

18

10.1038/8326

Marini, Joan C.

Journal:

Nature Medicine

Year:

1999

Language:

english

File:

PDF, 29 KB

english, 1999

19

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

20

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

21

Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors

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

Journal:

Journal of Bone and Mineral Research

Year:

2008

Language:

english

File:

PDF, 6.42 MB

english, 2008

22

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

Thomas E Uveges, Kenneth M Kozloff, Jennifer M Ty, Felicia Ledgard, Cathleen L Raggio, Gloria Gronowicz, Steven A Goldstein, Joan C Marini

Journal:

Journal of Bone and Mineral Research

Year:

2009

Language:

english

File:

PDF, 2.04 MB

english, 2009

23

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

24

Extension of Phenotype Associated with Structural Mutations in Type I Collagen: Siblings with Juvenile Osteoporosis Have an α2(I)Gly436 → Arg Substitution

Paul A. Dawson, Thaddeus E. Kelly, Joan C. Marini

Journal:

Journal of Bone and Mineral Research

Year:

1999

Language:

english

File:

PDF, 384 KB

english, 1999

25

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

26

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

27

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

Aileen M. Barnes, Wayne A. Cabral, MaryAnn Weis, Elena Makareeva, Edward L. Mertz, Sergey Leikin, David Eyre, Carlos Trujillo, Joan C. Marini

Journal:

Year:

2012

Language:

english

File:

PDF, 565 KB

english, 2012

28

Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

Antonella Forlino, Elena D'amato, Maurizia Valli, Gianni Camera, Elizabeth Hopkins, Joan C. Marini, Giuseppe Cetta, Domenico A. Coviello

Journal:

Biochemical and Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 401 KB

english, 1997

29

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

30

A Patient with Ehlers-Danlos Syndrome Type VI Is Homozygous for a Premature Termination Codon in Exon 14 of the Lysyl Hydroxylase 1 Gene

Linda C. Walker, Joan C. Marini, Dorothy K. Grange, Jane Filie, Heather N. Yeowell

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 139 KB

english, 1999

31

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

32

G76E Substitution in Type I Collagen Is the First Nonlethal Glutamic Acid Substitution in the α1(I) Chain and Alters Folding of the N-terminal End of the Helix

Wayne A. Cabral, Edith J. Chernoff, Joan C. Marini

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 609 KB

english, 2001

33

Poster 180: Age of Onset of Scoliosis in Osteogenesis Imperfecta May Be Associated With Sillence Type but Not Body Mass Index

Giovanni Paolo G. David, Scott M. Paul, Holly L. Cintas, Lynn H. Gerber, Joan Marini

Journal:

Archives of Physical Medicine and Rehabilitation

Year:

2005

Language:

english

File:

PDF, 59 KB

english, 2005

34

Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta

Mathieu S. Davis, Bethany L. Kovacic, Joan C. Marini, Albert J. Shih, Kenneth M. Kozloff

Journal:

Year:

2012

Language:

english

File:

PDF, 753 KB

english, 2012

35

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: A proteomic approach

Laura Bianchi, Assunta Gagliardi, Roberta Gioia, Roberta Besio, Chiara Tani, Claudia Landi, Maria Cipriano, Anna Gimigliano, Antonio Rossi, Joan C. Marini, Antonella Forlino, Luca Bini

Journal:

Journal of Proteomics

Year:

2012

Language:

english

File:

PDF, 1.85 MB

english, 2012

36

Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta

Joseph M. Wallace, Bradford G. Orr, Joan C. Marini, Mark M. Banaszak Holl

Journal:

Journal of Structural Biology

Year:

2011

Language:

english

File:

PDF, 949 KB

english, 2011

37

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

38

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

39

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

40

Effects of withdrawal of bracing in matched pairs of children with osteogenesis imperfecta

Lynn H. Gerber, Helga Binder, Roger Berry, Karen L. Siegel, Haesook Kim, Joan Weintrob, Young Jack Lee, Stephanie Mizell, Joan Marini

Journal:

Archives of Physical Medicine and Rehabilitation

Year:

1998

Language:

english

File:

PDF, 2.04 MB

english, 1998

41

An α2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta

Antonella Forlino, Douglas R. Keene, Karen Schmidt, Joan C. Marini

Journal:

Year:

1998

Language:

english

File:

PDF, 1.30 MB

english, 1998

42

High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta

Wayne A. Cabral, Joan C. Marini

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 713 KB

english, 2004

43

Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta

Arika D. Kemp, Chad C. Harding, Wayne A. Cabral, Joan C. Marini, Joseph M. Wallace

Journal:

Journal of Structural Biology

Year:

2012

Language:

english

File:

PDF, 1.54 MB

english, 2012

44

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

45

Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta

Sinder, Benjamin P, Eddy, Mary M, Ominsky, Michael S, Caird, Michelle S, Marini, Joan C, Kozloff, Kenneth M

Journal:

Journal of Bone and Mineral Research

Year:

2013

Language:

english

File:

PDF, 766 KB

english, 2013

46

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

47

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

48

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

49

New perspectives on osteogenesis imperfecta

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

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2011

Language:

english

File:

PDF, 1.10 MB

english, 2011

50

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

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