Search

Author/Creator Marini, Joan C

1. A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium‐Derived Factor. (June 2014)

Authors:
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
Issue:
Volume 29:Number 6(2014:Jun.)
Page Start:
1402
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Alzheimer's disease‐causing proline substitutions lead to presenilin 1 aggregation and malfunction. (5th October 2015)

Authors:
Ben‐Gedalya, Tziona; Moll, Lorna; Bejerano‐Sagie, Michal; Frere, Samuel; Cabral, Wayne A; Friedmann‐Morvinski, Dinorah; Slutsky, Inna; Burstyn‐Cohen, Tal; Marini, Joan C; Cohen, Ehud
Journal:
EMBO journal
Issue:
Volume 34:Number 22(2015)
Page Start:
2820
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study. (26th July 2019)

Authors:
Jha, Smita; Cowen, Edward W; Lehky, Tanya J; Alter, Katharine; Flynn, Lauren; Reynolds, James C; Lange, Eileen; Katz, James D; Marini, Joan C; Siegel, Richard M; Bhattacharyya, Timothy
Other Names:
Shore Eileen guestEditor.; Pacifici Maurizio guestEditor.
Journal:
JBMR plus
Issue:
Volume 3:Number 8(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations. (14th September 2018)

Authors:
Jha, Smita; Fratzl‐Zelman, Nadja; Roschger, Paul; Papadakis, Georgios Z; Cowen, Edward W; Kang, Heeseog; Lehky, Tanya J; Alter, Katharine; Deng, Zuoming; Ivovic, Aleksandra; Flynn, Lauren; Reynolds, James C; Dasgupta, Abhijit; Miettinen, Markku; Lange, Eileen; Katz, James; Klaushofer, Klaus; Mari...
Journal:
Journal of bone and mineral research
Issue:
Volume 34:Number 1(2019)
Page Start:
145
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation. (26th June 2017)

Authors:
Blouin, Stéphane; Fratzl‐Zelman, Nadja; Glorieux, Francis H; Roschger, Paul; Klaushofer, Klaus; Marini, Joan C; Rauch, Frank
Journal:
Journal of bone and mineral research
Issue:
Volume 32:Number 9(2017:Sep.)
Page Start:
1884
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction. (22nd January 2019)

Authors:
Fratzl‐Zelman, Nadja; Roschger, Paul; Kang, Heeseog; Jha, Smita; Roschger, Andreas; Blouin, Stéphane; Deng, Zuoming; Cabral, Wayne A; Ivovic, Aleksandra; Katz, James; Siegel, Richard M; Klaushofer, Klaus; Fratzl, Peter; Bhattacharyya, Timothy; Marini, Joan C
Journal:
Journal of bone and mineral research
Issue:
Volume 34:Number 5(2019)
Page Start:
883
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗