检索结果 - M. Cristina Digilio

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  1. 1
    Leopard syndrome

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

    出版 2008
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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 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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  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 由 Guido Michielon, Bruno Marino, Gianluca Oricchio, M. Cristina Digilio, Fiore S. Iorio, Sergio Filippelli, Silvia Placidi, Roberto M. Di Donato

    出版 2009
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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 由 Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, Marianne Crespin, S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin

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

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

    出版 2001
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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 由 M. Cristina Digilio, Donna M. McDonald‐McGinn, Carrie L. Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai

    出版 2009
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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 由 Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, M. Cristina Digilio, Bruno Marino, Aldo Giannotti, Orazio Gabrielli, Giuseppe Novelli, Bruno Dallapiccola

    出版 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 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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  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? 由 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 2009
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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 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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  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 由 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 2013
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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 由 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 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 由 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 2005
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  14. 14
    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 由 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 2012
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  15. 15
    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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  16. 16
    Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

    Diagnosis of Noonan syndrome and related disorders using target next generation sequencing 由 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 2014
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  17. 17
    Hypertrophic Cardiomyopathy in RASopathies

    Hypertrophic Cardiomyopathy in RASopathies 由 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 2021
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  18. 18
    Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

    Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers 由 Marta Unolt, Paolo Versacci, Silvia Anaclerio, Caterina Lambiase, Giulio Calcagni, Matteo Trezzi, Adriano Carotti, T. Blaine Crowley, Elaine H. Zackai, Elizabeth Goldmuntz, J. William Gaynor, M. Cristina Digilio, Donna M. McDonald‐McGinn, Bruno Marino

    出版 2018
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  19. 19
    Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy

    Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy 由 Marta Bértoli, G. Biasini, M. T. Calignano, G. Celani, Georgio Grossi, M. Cristina Digilio, C. C. Fermariello, G. Loffredo, F. Luchino, Anna Marchese, Stefania Mazotti, B. Menghi, C. Razzano, C. Tiano, A. Zambon Hobart, Giuseppe Zampino, Giuseppe Zuccalà

    出版 2011
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  20. 20
    Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

    Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia 由 Aslı Sırmacı, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Güney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk, Aslı Kavaz, Susan H. Blanton, M. Cristina Digilio, Bruno Dallapiccola, Juan I. Young, Stephan Züchner, Mustafa Tekin

    出版 2011
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