检索结果 - Sheila Unger

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  1. 1
    Nosology and classification of genetic skeletal disorders: 2006 revision

    Nosology and classification of genetic skeletal disorders: 2006 revision 由 Andrea Superti‐Furga, Sheila Unger

    出版 2006
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  2. 2
    Current Care and Investigational Therapies in Achondroplasia

    Current Care and Investigational Therapies in Achondroplasia 由 Sheila Unger, Luisa Bonafé, Elvire Gouze

    出版 2017
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  3. 3
    BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs?

    BRCA genetic testing and counseling in breast cancer: how do we meet our patients’ needs? 由 Peter Dubsky, Christian Jackisch, Seock‐Ah Im, Kelly K. Hunt, Chien‐Feng Li, Sheila Unger, Shani Paluch–Shimon

    出版 2024
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  4. 4
    CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

    CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome 由 Vincent J. Guen, Carly Gamble, Marc Flajolet, Sheila Unger, Aurélie Thollet, Yoan Ferandin, Andrea Superti‐Furga, Pascale A. Cohen, Laurent Meijer, Pierre Colas

    出版 2013
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  5. 5
    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

    Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity 由 Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta

    出版 2022
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  6. 6
    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

    Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia 由 Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valérie Cormier‐Daire, Sarah M. Nikkel, Gen Nishimura, Sheila Unger, Jürgen W. Spranger, Andrea Superti‐Furga, Bernhard Zabel

    出版 2009
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  7. 7
    CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

    CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome 由 Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl‐Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti‐Furga, Paolo Bonaldo, Gijs R. van den Brink

    出版 2017
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  8. 8
    TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

    TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome 由 Ekkehart Lausch, Pia Hermanns, Henner F. Farin, Yasemin Alanay, Sheila Unger, Sarah M. Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen W. Spranger, Bernhard Zabel, Andreas Kispert, Andrea Superti‐Furga

    出版 2008
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  9. 9
    Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

    Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases 由 Tatsuya Furuichi, Hülya Kayserili, Shûichi Hiraoka, Gen Nishimura, Hirofumi Ohashi, Yasemin Alanay, JUAN LERENA, Ayça Dilruba Aslanger, Haruhiko Koseki, Daniel H. Cohn, Andrea Superti‐Furga, Sheila Unger, Shiro Ikegawa

    出版 2009
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  10. 10
    Nosology and classification of genetic skeletal disorders: 2015 revision

    Nosology and classification of genetic skeletal disorders: 2015 revision 由 Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger

    出版 2015
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  11. 11
    Nosology and classification of genetic skeletal disorders: 2019 revision

    Nosology and classification of genetic skeletal disorders: 2019 revision 由 Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman

    出版 2019
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  12. 12
    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis 由 Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Pérez Aytés, H. Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, M. Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nishimura, Jürgen W. Spranger, Bernhard Zabel, Andrea Superti‐Furga

    出版 2008
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  13. 13
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia 由 Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    出版 2015
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  14. 14
    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia 由 Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, A Baxová, Karl‐Henrik Gustavson, Zvi Borochowitz, A. Micheil Innes, Sheila Unger, J. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti‐Furga, Ravi Savarirayan, Luisa Bonafé

    出版 2009
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  15. 15
    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations

    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations 由 Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Mégarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae‐Joon Cho, F. Bedeschi, Francesco Benedicenti, Roberto Mendoza‐Londono, Margherita Silengo, Maren Schmidt‐Rimpler, Jürgen W. Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti‐Furga

    出版 2010
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  16. 16
    Nosology and classification of genetic skeletal disorders: 2010 revision

    Nosology and classification of genetic skeletal disorders: 2010 revision 由 Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen P. Robertson, Ravi Savarirayan, David Sillence, J Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga

    出版 2011
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  17. 17
    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP 由 Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga

    出版 2011
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  18. 18
    Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

    Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium 由 Léa Guerrini‐Rousseau, Pascale Varlet, Chrystelle Colas, Felipe Andreiuolo, Franck Bourdeaut, Karin Dahan, Christine Devalck, Cécile Faure‐Conter, Maurizio Genuardi, Yael Goldberg, Michaela Kuhlen, Salma Moalla, Enrico Opocher, Vanessa Pérez‐Alonso, Astrid Sehested, Irene Slavc, Sheila Unger, Katharina Wimmer, Jacques Grill, Laurence Brugières

    出版 2019
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  19. 19
    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene 由 Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto, Sérgio B. Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C. Engle, Sheila Unger, Frederic Shapiro, Andrea Superti‐Furga, Carlo Rivolta, Belinda Campos‐Xavier

    出版 2019
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  20. 20
    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... 由 Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor, Geert Mortier, J Spranger, Bernhard Zabel, Martine Le Merrer, Valérie Cormier‐Daire, Christine M Hall, Amaka C Offiah, Michael Wright, Ravi Savarirayan, Gen Nishimura, Simon Ramsden, Rob Elles, Luisa Bonafé, Andrea Superti‐Furga, Sheila Unger, Andreas Zankl, Michael D. Briggs

    出版 2011
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