检索结果 - Anna Sárközy

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  1. 1
    Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

    Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome 由 Anna Sárközy

    出版 2004
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  2. 2
    Leopard syndrome

    Leopard syndrome 由 Anna Sárközy, M. Cristina Digilio, Bruno Dallapiccola

    出版 2008
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  3. 3
    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness 由 Anna Sárközy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni

    出版 2020
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  4. 4
    LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

    LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort 由 Alberto A. Zambon, Deborah Ridout, M. Main, R. Mein, Rahul Phadke, Francesco Muntoni, Anna Sárközy

    出版 2020
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  5. 5
    Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

    Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene 由 M. Cristina Digilio, Emanuela Conti, Anna Sárközy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    出版 2002
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  6. 6
    A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13

    A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 由 Francesco Brancati, Enza Maria Valente, Anna Sárközy, János Fehér, Marco Castori, P Del Duca, R. Mingarelli, Antonio Pizzuti, Bruno Dallapiccola

    出版 2004
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  7. 7
    Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

    Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors 由 Anna Sárközy, Eugenia Conti, Christian Néri, Richard S. D’Agostino, M. Cristina Digilio, Graziana Esposito, A. Toscano, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    出版 2005
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  8. 8
    Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

    Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes 由 Anna Sárközy, Emanuela Conti, Davide Seripa, M. Cristina Digilio, N. Grifone, Caterina Tandoi, Vito Michele Fazio, Vincenzo Di Ciommo, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    出版 2003
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  9. 9
    263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

    263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Net... 由 Anna Sárközy, Rosaline C. M. Quinlivan, John Bourke, Alessandra Ferlini, Inès Barthélémy, John Bourke, Linda Cripe, Emily Reuben, Teresinha Evangelista, Alessandra Ferlini, Anca Florian, Josh Gribnau, Lídia González-Quereda, Michela Guglieri, Erik H. Niks, Rahul Phadke, Luisa Politano, Rosaline C. M. Quinlivan, Anna Sárközy, John Vissing, Nicol C. Voermans, Elizabeth Vroom, A. Pietrusz, F. Fortunato, Saskia L.S. Houwen

    出版 2023
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  10. 10
    New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle

    New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle 由 Alessandro De Luca, Anna Sárközy, Rosangela Ferese, Federica Consoli, Francesca Romana Lepri, ML Dentici, Pasquale Vergara, Andrea De Zorzi, Paolo Versacci, MC Digilio, Bruno Marino, Bruno Dallapiccola

    出版 2010
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  11. 11
    Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

    Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation 由 Zagaa Odgerel, Anna Sárközy, Hee-Suk Lee, Caoimhe McKenna, Julia Rankin, Volker Straub, Hanns Lochmüller, Paola Francalanci, Adele D’Amico, Enrico Bertini, Kate Bushby, Lev G. Goldfarb

    出版 2010
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  12. 12
    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype 由 Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sárközy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    出版 2006
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  13. 13
    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations 由 Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, Claudio Carta, Francesca Romana Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, M. Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola

    出版 2009
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  14. 14
    Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

    Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy 由 Debbie Hicks, Golara Torabi Farsani, S.H. Laval, James J. Collins, Anna Sárközy, E. Martoni, Aysha Haleem Shah, Yaqun Zou, Manuel Koch, Carsten G. Bönnemann, M. Roberts, Hanns Lochmüller, Kate Bushby, Volker Straub

    出版 2013
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  15. 15
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome 由 Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

    出版 2005
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  16. 16
    Clinical features of the myasthenic syndrome arising from mutations in GMPPB

    Clinical features of the myasthenic syndrome arising from mutations in GMPPB 由 Pedro M. Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, Maryam Sedghi, Maria Elena Farrugia, Janice L. Holton, Weiwei Liu, Susan Maxwell, Richard Petty, Timothy J. Walls, Robin P. Kennett, Matthew Pitt, Anna Sárközy, Matt Parton, Hanns Lochmüller, Francesco Muntoni, Jacqueline Palace, David Beeson

    出版 2016
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  17. 17
    A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

    A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy 由 Debbie Hicks, Anna Sárközy, Nuria Muelas, Katrin Koehler, Angela Huebner, Gavin Hudson, Patrick F. Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geoff Bailey, James Miller, Aleksandar Radunović, PJ Hughes, R.G. Roberts, Sabine Krause, Maggie C. Walter, S. Laval, Volker Straub, Hanns Lochmüller, Kate Bushby

    出版 2010
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  18. 18
    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome 由 Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia

    出版 2006
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  19. 19
    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia 由 Alessia Nasca, C. Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Ólafur Þ. Magnússon, Anikó Gál, David T. Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sárközy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, Gyӧrgy Hajnόczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi

    出版 2017
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  20. 20
    229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

    229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 由 Volker Straub, Alexander P. Murphy, Bjarne Udd, C. Angelini, Ségolène Aymé, Carsten Bönneman, Marjolein Visser, Ada Hamosh, Laura Jacobs, Nina Khizanishvili, Madelon Kroneman, Pascal Laflorêt, A. St. J. Murphy, Vincenzo Nigro, Laura Rufibach, Anna Sárközy, Shaun Swanepoel, Ivan Torrente, Bjarne Udd, Andoni Urtizberea, John Vissing, Maggie C. Walter

    出版 2018
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