検索結果 - Cristina Digilio

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  1. 1
    Leopard syndrome

    Leopard syndrome 著者: Anna Sárközy, M. Cristina Digilio, Bruno Dallapiccola

    出版事項 2008
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    Revisão
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  2. 2
    Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

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

    出版事項 2002
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    Artigo
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  3. 3
    Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects

    Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects 著者: Guido Michielon, Bruno Marino, Gianluca Oricchio, M. Cristina Digilio, Fiore S. Iorio, Sergio Filippelli, Silvia Placidi, Roberto M. Di Donato

    出版事項 2009
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    Artigo
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  4. 4
    Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

    Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome 著者: Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, Marianne Crespin, S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin

    出版事項 2011
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    Artigo
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  5. 5
    Anatomic patterns of conotruncal defects associated with deletion 22q11

    Anatomic patterns of conotruncal defects associated with deletion 22q11 著者: Bruno Marino, M. Cristina Digilio, Alessandra Toscano, Silvia Anaclerio, Aldo Giannotti, Cristiana Feltri, Maria Antonietta De Ioris, Adriano Angioni, Bruno Dallapiccola

    出版事項 2001
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    Artigo
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  6. 6
    Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

    Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2 著者: M. Cristina Digilio, Donna M. McDonald‐McGinn, Carrie L. Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai

    出版事項 2009
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    Artigo
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  7. 7
    Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

    Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome 著者: Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, M. Cristina Digilio, Bruno Marino, Aldo Giannotti, Orazio Gabrielli, Giuseppe Novelli, Bruno Dallapiccola

    出版事項 1999
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  8. 8
    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 著者: Anna Sárközy, Eugenia Conti, Christian Néri, Richard S. D’Agostino, M. Cristina Digilio, Graziana Esposito, A. Toscano, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    出版事項 2005
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  9. 9
    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? 著者: Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, M. Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey, Bruno Dallapiccola

    出版事項 2009
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    Artigo
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  10. 10
    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 著者: 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

    出版事項 2003
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    Carta
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  11. 11
    Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

    Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits 著者: Carmela Fusco, Lucia Micale, Bartolomeo Augello, Maria Teresa Pellico, Deny Menghini, Paolo Alfieri, M. Cristina Digilio, Barbara Mandriani, Massimo Carella, Orazio Palumbo, Stefano Vicari, Giuseppe Merla

    出版事項 2013
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    Artigo
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  12. 12
    Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

    Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 著者: Lucia Micale, Maria Giuseppina Turturo, Carmela Fusco, Bartolomeo Augello, L.A. Pérez Jurado, Claudia Izzi, M. Cristina Digilio, Donatella Milani, Elisabetta Lapi, Leopoldo Zelante, Giuseppe Merla

    出版事項 2009
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  13. 13
    Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

    Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions 著者: Cédric Howald, Giuseppe Merla, M. Cristina Digilio, Styliani Amenta, Robert Lyle, Samuel Deutsch, Urmila Choudhury, Armand Bottani, Stylianos E. Antonarakis, Helen Fryssira, Bruno Dallapiccola, Alexandre Reymond

    出版事項 2005
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  14. 14
    Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

    Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits 著者: Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefano, Merla, Giuseppe

    出版事項 2014
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    テキスト
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  15. 15
    Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general functioning

    Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general functioning 著者: Marco Armando, Paolo Girardi, Stefano Vicari, Deny Menghini, M. Cristina Digilio, Maria Pontillo, Riccardo Saba, Luigi Mazzone, Ashleigh Lin, Claudia M. Klier, Miriam R. Schäfer, G. Paul Amminger

    出版事項 2012
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  16. 16
    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 著者: 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

    出版事項 2006
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  17. 17
    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 著者: 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

    出版事項 2009
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  18. 18
    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome 著者: Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Sólveig Óskarsdóttir, Nicole Philip, Kathleen E. Sullivan, Ann Swillen, Jacob Vorstman

    出版事項 2011
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  19. 19
    Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

    Diagnosis of Noonan syndrome and related disorders using target next generation sequencing 著者: Francesca Romana Lepri, Rossana Scavelli, M. Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola

    出版事項 2014
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    Artigo
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  20. 20
    Hypertrophic Cardiomyopathy in RASopathies

    Hypertrophic Cardiomyopathy in RASopathies 著者: Michele Lioncino, Emanuele Monda, Federica Verrillo, Elisabetta Moscarella, Giulio Calcagni, Fabrizio Drago, Bruno Marino, M. Cristina Digilio, Carolina Putotto, Paolo Calabrò, Maria Giovanna Russo, Amy E. Roberts, Bruce D. Gelb, Marco Tartaglia, Giuseppe Limongelli

    出版事項 2021
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