نتائج البحث - Isabella Ceccherini

تنقيح النتائج
  1. 1
    Causative and common <i>PHOX2B</i> variants define a broad phenotypic spectrum

    Causative and common <i>PHOX2B</i> variants define a broad phenotypic spectrum حسب Tiziana Bachetti, Isabella Ceccherini

    منشور في 2019
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  2. 2
    Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences

    Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences حسب Marco Musso, Renata Bocciardi, Sara Parodi, Roberto Ravazzolo, Isabella Ceccherini

    منشور في 2006
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  3. 3
    A systematic review and meta-analysis of GFAP gene variants in Alexander disease

    A systematic review and meta-analysis of GFAP gene variants in Alexander disease حسب Alice Grossi, Francesca Rosamilia, Silvia Carestiato, Ettore Salsano, Isabella Ceccherini, Tiziana Bachetti

    منشور في 2024
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  4. 4
    Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

    Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome حسب Tiziana Bachetti, Ivana Matera, Silvia Borghini, Marco Di Duca, Roberto Ravazzolo, Isabella Ceccherini

    منشور في 2005
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  5. 5
    Nuclear Run-On Assay Using Biotin Labeling, Magnetic Bead Capture and Analysis by Fluorescence-Based RT-PCR

    Nuclear Run-On Assay Using Biotin Labeling, Magnetic Bead Capture and Analysis by Fluorescence-Based RT-PCR حسب Giovanna Patrone, Francesca Puppo, Roberto Cusano, Monica Scaranari, Isabella Ceccherini, Aldamaria Puliti, Roberto Ravazzolo

    منشور في 2000
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  6. 6
    Hirschsprung Disease and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

    Hirschsprung Disease and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) حسب Alessio Pini Prato, Marco Musso, Isabella Ceccherini, Girolamo Mattioli, Camilla Giunta, Gian Marco Ghiggeri, Vincenzo Jasonni

    منشور في 2009
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  7. 7
    Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence.

    Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. حسب Cristina Romei, Rossella Elisei, Aldo Pinchera, Isabella Ceccherini, Eleonora Molinaro, Francesco Mancusi, E. Martino, G Romeo, Furio Pacini

    منشور في 1996
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  8. 8
    Can MR Imaging Diagnose Adult-Onset Alexander Disease?

    Can MR Imaging Diagnose Adult-Onset Alexander Disease? حسب Laura Farina, Davide Pareyson, Ludovico Minati, Isabella Ceccherini, Luisa Chiapparini, Silvia Romano, P. Gambaro, Roberto Fancellu, M. Savoiardo

    منشور في 2008
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  9. 9
    Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

    Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine حسب Debra E. Weese‐Mayer, Casey M. Rand, Elizabeth Berry‐Kravis, Larry Jennings, Darius Loghmanee, Pallavi P. Patwari, Isabella Ceccherini

    منشور في 2009
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  10. 10
    Recent advances in the developmental origin of neuroblastoma: an overview

    Recent advances in the developmental origin of neuroblastoma: an overview حسب Mirco Ponzoni, Tiziana Bachetti, Maria Valeria Corrias, Chiara Brignole, Fabio Pastorino, Enzo Calarco, Veronica Bensa, Elena Giusto, Isabella Ceccherini, Patrizia Perri

    منشور في 2022
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  11. 11
    Early clonal extinction in glioblastoma progression revealed by genetic barcoding

    Early clonal extinction in glioblastoma progression revealed by genetic barcoding حسب Davide Ceresa, Francesco Alessandrini, Sara Lucchini, Daniela Marubbi, Francesca Piaggio, Jorge Miguel Mena Vera, Isabella Ceccherini, Daniele Reverberi, Irene Appolloni, Paolo Malatesta

    منشور في 2023
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  12. 12
    Interaction between a chromosome 10<i>RET</i>enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association

    Interaction between a chromosome 10<i>RET</i>enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association حسب Stacey Arnold, Anna Pelet, Jeanne Amiel, Salud Borrego, Robert M.W. Hofstra, Paul Tam, Isabella Ceccherini, Stanislas Lyonnet, Stephanie L. Sherman, Aravinda Chakravarti

    منشور في 2009
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  13. 13
    Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

    Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease حسب Yin Luo, Isabella Ceccherini, Barbara Pasini, Ivana Matera, Maria Patrizia Bicocchi, Virginia Barone, Renata Bocclardi, Helena Kääriänen, D. Weber, Marcella Devoto, Giovanni Romeo

    منشور في 1993
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  14. 14
    Clinical and genetic characterization of Italian patients affected by CINCA syndrome

    Clinical and genetic characterization of Italian patients affected by CINCA syndrome حسب Francesco Caroli, Alessandra Pontillo, Andrea D’Osualdo, Laura Travan, Isabella Ceccherini, Sérgio Crovella, Maria Alessio, Achille Stabile, Marco Gattorno, Alberto Tommasini, Alberto Martini, Loredana Lepore

    منشور في 2006
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  15. 15
    Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

    Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature حسب Davide Pareyson, Roberto Fancellu, Caterina Mariotti, Silvia Romano, Andrea Salmaggi, F. Carella, F Girotti, G. Gattellaro, Maria Rita Carriero, Laura Farina, Isabella Ceccherini, M. Savoiardo

    منشور في 2008
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  16. 16
    Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

    Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease حسب Alberto Auricchio, Paola Griseri, Maria Luisa Carpentieri, Nicola Betsos, Annamaria Staiano, Arturo Tozzi, Manuela Priolo, H L Thompson, Renata Bocciardi, Giovanni Romeo, Andrea Ballabio, Isabella Ceccherini

    منشور في 1999
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  17. 17
    Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases

    Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases حسب Angelo Valerio Marzano, Isabella Ceccherini, Marco Gattorno, Daniele Fanoni, Francesco Caroli, Marta Rusmini, Alice Grossi, Clara De Simone, María Orietta Borghi, Pier Luigi Meroni, C. Crosti, Massimo Cugno

    منشور في 2014
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  18. 18
    A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

    A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA) حسب Leonardo Oliveira Mendonça, Alice Grossi, Francesco Caroli, Robson Aguiar de Oliveira, Jorge Kalil, Fábio Fernandes Morato Castro, Alessandra Pontillo, Isabella Ceccherini, Myrthes Anna Maragna Toledo Barros, Marco Gattorno

    منشور في 2020
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  19. 19
    Long‐term clinical profile of children with the low‐penetrance R92Q mutation of the <i>TNFRSF1A</i> gene

    Long‐term clinical profile of children with the low‐penetrance R92Q mutation of the <i>TNFRSF1A</i> gene حسب MA Pelagatti, Jordi Antón, Roberta Caorsi, Marco Cattalini, Silvia Federici, Francesco Zulian, G Calcagno, Alberto Tommasini, Grazia Bossi, Maria Pia Sormani, Francesco Caroli, Alessandro Plebani, Isabella Ceccherini, Alberto Martini, Marco Gattorno

    منشور في 2011
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  20. 20
    PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

    PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilati... حسب Ivana Matera, Tiziana Bachetti, Francesca Puppo, Marco Di Duca, Francesco Morandi, Giuseppina Casiraghi, Maria Roberta Cilio, Raoul C. M. Hennekam, Robert M.W. Hofstra, J G Schöber, Roberto Ravazzolo, G. Ottonello, Isabella Ceccherini

    منشور في 2004
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