檢索結果 - Cecilia Giunta

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  1. 1
    Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

    Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings 由 Marianne Rohrbach, Cecilia Giunta

    出版 2012
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  2. 2
    COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

    COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS 由 Richard Wenstrup, Jane B. Florer, Marcia Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole

    出版 2000
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  3. 3
    Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

    Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta 由 Uschi Lindert, Mary Ann Weis, Jyoti Rai, Frank Seeliger, Ingrid Haußer, Tosso Leeb, David R. Eyre, Marianne Rohrbach, Cecilia Giunta

    出版 2015
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  4. 4
    Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome

    Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome 由 Jeeyon Jeong, Joel M. Walker, Fudi Wang, J. Genevieve Park, Amy E. Palmer, Cecilia Giunta, Marianne Rohrbach, Beat Steinmann, David Eide

    出版 2012
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  5. 5
    Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study

    Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study 由 Thomas Gaisl, Cecilia Giunta, Daniel J. Bratton, Kate Sutherland, Christian Schlatzer, Noriane A. Sievi, Daniel Franzen, Peter A. Cistulli, Marianne Rohrbach, Malcolm Kohler

    出版 2017
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  6. 6
    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

    Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 由 Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht, G. Eich, Céline Chambaz, Andreas Janecke, Heather N. Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

    出版 2008
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  7. 7
    Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

    Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation 由 Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gül Serdaroğlu, Esra Ataman, Maya Chopra, S. García García, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias R. Baumgartner, Cecilia Giunta

    出版 2011
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  8. 8
    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta 由 Víctor Martínez‐Glez, Eulalia Valencia, José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Jair Tenorio, Verónica Pulido, Uschi Lindert, Marianne Rohrbach, David R. Eyre, Cecilia Giunta, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    出版 2011
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  9. 9
    Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

    Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients 由 Patricie Burda, Alexandra Schäfer, Terttu Suormala, Till Rummel, Céline Bürer, Dorothea M. Heuberger, Michele Frapolli, Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, Hans Georg Koch, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner

    出版 2015
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  10. 10
    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components 由 Marianne Rohrbach, Helen Spencer, Louise F. Porter, Emma Burkitt‐Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al‐Hussain, Matthias R. Baumgartner, Beat Steinmann, Graeme Black, Forbes D.C. Manson, Cecilia Giunta

    出版 2013
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  11. 11
    Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

    Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type 由 Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Şimşek‐Kiper, Hester Y. Kroes, Koenraad Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait

    出版 2016
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  12. 12
    Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

    Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta 由 Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno J. Bolz, Cecilia Giunta, Carsten Bergmann, Marianne Rohrbach, Friederike Koerber, Katharina Zimmermann, Petra de Vries, Brunhilde Wirth, Eckhard Schöenau, Bernd Wollnik, Joris A. Veltman, Alexander Hoischen, Christian Netzer

    出版 2011
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  13. 13
    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations

    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations 由 Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann

    出版 2015
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  14. 14
    The Ehlers–Danlos syndromes, rare types

    The Ehlers–Danlos syndromes, rare types 由 Angela F. Brady, Serwet Demirdas, Sylvie Fournel‐Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer‐Seebacher, Tomoki Kosho, Roberto Mendoza‐Londono, Michael Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol C. Voermans, Johannes Zschocke, Fransiska Malfait

    出版 2017
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  15. 15
    Sestrin2 drives ER-phagy in response to protein misfolding

    Sestrin2 drives ER-phagy in response to protein misfolding 由 Chiara De Leonibus, Marianna Maddaluno, Rosa Ferriero, Roberta Besio, Laura Cinque, Pei Jin Lim, Alessandro Palma, Rossella De Cegli, Salvatore Gagliotta, Sandro Montefusco, Maria Iavazzo, Marianne Rohrbach, Cecilia Giunta, Elena Polishchuk, Diego Louis Medina, Diego di Bernardo, Antonella Forlino, Pasquale Piccolo, Carmine Settembre

    出版 2024
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  16. 16
    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta 由 Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, MaryAnn Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena Makareeva, Andreas Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk

    出版 2016
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  17. 17
    Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

    Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abn... 由 Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Sara Pajouhanfar‎, Taghi Baghdadi, Azam Ahmadi Shadmehri, Cecilia Giunta, Marius Kraenzlin, Delfien Syx, Fransiska Malfait, Cristina Has, Su M. Lwin, Razieh Karamzadeh, Lu Liu, Alyson Guy, Mohammad Hamid, Ariana Kariminejad, Sirous Zeinali, John A. McGrath, Jouni Uitto

    出版 2018
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  18. 18
    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 由 Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano‐Roy, Francesco Muntoni, Sebahattin Çırak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma B. Romero, R. Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, C. Bönnemann, Johannes Zschocke, Christine Fauth

    出版 2012
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  19. 19
    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance 由 Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo Zeef, Jill Urquhart, Nicoletta Zoppi, R E Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel Dodds, Kate Chandler, Siddharth Banka, Leon Au, Jill Clayton‐Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme Black

    出版 2011
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  20. 20
    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta 由 Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza‐Meireles, Carolina Moreno, Eugênia Ribeiro Valadares, Sérgio B. Sousa, Sofia Maia, Jorge Saraiva, Rachel Sayuri Honjo, Chong Ae Kim, Hamilton Cabral De Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Débora Romeo Bertola, Bernd Wollnik, Christian Netzer

    出版 2019
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