Nadja Fratzl-Zelman - Dissemin

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All papers authored by Nadja Fratzl-Zelman

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2022 Alice Costantini

ORCID

, M. Carola Zillikens, Riikka E. Mäkitie

ORCID

, Markus A. Hartmann

ORCID

, Nadja Fratzl‐Zelman

ORCID

, M. Carola Zillikens, Uwe Kornak

ORCID

ORCID

, Outi Mäkitie

ORCID

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

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Nadja Fratzl‐Zelman

ORCID

, Markus A. Hartmann

ORCID

, Sonja Gamsjaeger

ORCID

, Stamatia Rokidi, Eleftherios P. Paschalis, Stéphane Blouin

ORCID

, Jochen Zwerina

Bone Matrix Mineralization and Response to Burosumab in Adult Patients With X‐Linked Hypophosphatemia: Results From the Phase 3, Single‐Arm International Trial

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2021 Riikka E. Mäkitie

ORCID

, Stéphane Blouin, Ville‐Valtteri Välimäki, Sandra Pihlström, Kirsi Maatta, Kirsi Määttä, Minna Pekkinen, Nadja Fratzl‐Zelman

ORCID

, Outi Mäkitie

ORCID

, Markus A. Hartmann

ORCID

Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early‐Onset Osteoporosis Due to SGMS2 Mutations

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Benjamin Hadzimuratovic

ORCID

, Judith Haschka, Markus A. Hartmann

ORCID

, Stéphane Blouin

ORCID

, Nadja Fratzl‐Zelman

ORCID

, Jochen Zwerina, Roland Kocijan

Impact of Tenofovir Disoproxil‐Induced Fanconi Syndrome on Bone Material Quality: A Case Report

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Matthias Mähr, Stéphane Blouin

ORCID

, Martina Behanova

ORCID

, Barbara M. Misof

ORCID

, Francis H. Glorieux, Jochen Zwerina, Frank Rauch, Markus A. Hartmann

ORCID

, Nadja Fratzl-Zelman

ORCID

Increased Osteocyte Lacunae Density in the Hypermineralized Bone Matrix of Children with Osteogenesis Imperfecta Type I

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Matthias Maehr, Matthias Mähr, Stéphane Blouin, Barbara M. Misof, Eleftherios P. Paschalis, Markus A. Hartmann

ORCID

, Jochen Zwerina, Nadja Fratzl-Zelman

ORCID

Bone properties in osteogenesis imperfecta: what can we learn from a bone biopsy beyond histology?

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2020 Nadja Fratzl-Zelman

ORCID

, Sonja Gamsjaeger, Stéphane Blouin, Roland Kocijan, Pia Plasenzotti, Stamatia Rokidi, Kamilla Nawrot-Wawrzyniak, Katharina Roetzer, Gökhan Uyanik, Gabriele Haeusler, Elizabeth Shane, Adi Cohen, Klaus Klaushofer, Eleftherios P. Paschalis, Paul Roschger and 3 other authors

Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH)

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Heeseog Kang

ORCID

ORCID

, Aleksandra Ivovic, Nadja Fratzl-Zelman

ORCID

, Zuoming Deng, Apratim Mitra, Wayne A. Cabral

ORCID

, Eric P. Hanson

ORCID

, Eileen Lange, Edward W. Cowen, James Katz

ORCID

, Paul Roschger, Klaus Klaushofer, Ryan K. Dale, Richard M. Siegel

ORCID

and 2 other authors

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway

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2019 S. Blouin

ORCID

, N. Fratzl-Zelman

ORCID

, A. Roschger, W. A. Cabral, K. Klaushofer, J. C. Marini, P. Fratzl, P. Roschger

Cortical bone properties in the Brtl/+ mouse model of Osteogenesis imperfecta as evidenced by acoustic transmission microscopy

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Nadja Fratzl‐Zelman

ORCID

, Paul Roschger, Heeseog Kang, Smita Jha, Andreas Roschger, Stéphane Blouin

ORCID

, Zuoming Deng, Wayne A. Cabral, Aleksandra Ivovic, James Katz, Richard M. Siegel

ORCID

, Klaus Klaushofer, Peter Fratzl, Timothy Bhattacharyya, Joan C. Marini

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction

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2018 Renata C. Pereira, Isidro B. Salusky, Paul Roschger, Klaus Klaushofer, Ora Yadin, Earl G. Freymiller, Richard Bowen, Anne M. Delany, Nadja Fratzl-Zelman

ORCID

, Katherine Wesseling-Perry

Impaired osteocyte maturation in the pathogenesis of renal osteodystrophy

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Smita Jha, Nadja Fratzl‐Zelman

ORCID

, Paul Roschger, Georgios Z. Papadakis, Edward W. Cowen, Heeseog Kang, Tanya J. Lehky, Katharine Alter, Zuoming Deng, Aleksandra Ivovic, Lauren Flynn, James C. Reynolds, Abhijit Dasgupta, Markku Miettinen, Eileen Lange and 5 other authors

Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations

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Katarina Lindahl, Eva Åström, Anca Dragomir, Sofie Symoens, Paul Coucke, Sune Larsson, Eleftherios Paschalis, Paul Roschger, Sonja Gamsjaeger, Klaus Klaushofer, Nadja Fratzl-Zelman

ORCID

, Andreas Kindmark

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

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Suma Uday, Nadja Fratzl-Zelman

ORCID

, Paul Roschger, Klaus Klaushofer, Ashish Chikermane, Vrinda Saraff, Ted Tulchinsky, Tom D. Thacher, Tamas Marton, Wolfgang Högler

ORCID

Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg

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Meena Balasubramanian

ORCID

, Nadja Fratzl-Zelman

ORCID

, Rory O'Sullivan, Mary Bull, Nicola Fa Peel, Rebecca C. Pollitt

ORCID

, Rebecca Jones, Elizabeth Milne, Kath Smith, Paul Roschger, Klaus Klaushofer, Nicholas J. Bishop

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

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Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman

ORCID

, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan

ORCID

, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel

ORCID

, Timothy Bhattacharyya and 1 other authors

Somatic activating mutations in MAP2K1 cause melorheostosis

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2017 Joan C. Marini, Antonella Forlino, Hans Peter Bächinger, Nick J. Bishop, Peter H. Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman

ORCID

, Kenneth M. Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler

Osteogenesis imperfecta

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Stéphane Blouin

ORCID

, Nadja Fratzl-Zelman

ORCID

, Francis H. Glorieux, Paul Roschger, Klaus Klaushofer, Joan C. Marini, Frank Rauch

Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

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Emma A. Webb, Meena Balasubramanian, Nadja Fratzl-Zelman

ORCID

, Wayne A. Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J. Crabtree, Brandi M. Sargent, Sonja Gamsjaeger, Eleftherios P. Paschalis, Paul Roschger and 4 other authors

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

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Nadja Fratzl-Zelman

ORCID

, Helena Valta, Renata C. Pereira, Barbara M. Misof, Paul Roschger, Hannu Jalanko, Katherine Wesseling-Perry, Klaus Klaushofer, Outi Mäkitie

Abnormally High and Heterogeneous Bone Matrix Mineralization After Childhood Solid Organ Transplantation: A Complex Pathology of Low Bone Turnover and Local Defects in Mineralization

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