Resultats de la cerca - M. Cristina Digilio

Refinar resultats
  1. 1
    Leopard syndrome

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

    Publicat 2008
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per M. Cristina Digilio, Emanuela Conti, Anna Sárközy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    Publicat 2002
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Guido Michielon, Bruno Marino, Gianluca Oricchio, M. Cristina Digilio, Fiore S. Iorio, Sergio Filippelli, Silvia Placidi, Roberto M. Di Donato

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, Marianne Crespin, S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  5. 5
    Anatomic patterns of conotruncal defects associated with deletion 22q11

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

    Publicat 2001
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  6. 6
    Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

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

    Publicat 2009
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, M. Cristina Digilio, Bruno Marino, Aldo Giannotti, Orazio Gabrielli, Giuseppe Novelli, Bruno Dallapiccola

    Publicat 1999
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Anna Sárközy, Eugenia Conti, Christian Néri, Richard S. D’Agostino, M. Cristina Digilio, Graziana Esposito, A. Toscano, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    Publicat 2005
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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? per 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

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2003
    Obtenir text complet Obtenir text complet
    Carta
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2013
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2005
    Obtenir text complet
    Carta
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2012
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2014
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  17. 17
    Hypertrophic Cardiomyopathy in RASopathies

    Hypertrophic Cardiomyopathy in RASopathies per 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

    Publicat 2021
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2018
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: