Ngā hua rapu - Isabella Ceccherini

Whakamahine hua
  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 mā Tiziana Bachetti, Isabella Ceccherini

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Revisão
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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 mā Marco Musso, Renata Bocciardi, Sara Parodi, Roberto Ravazzolo, Isabella Ceccherini

    I whakaputaina 2006
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Alice Grossi, Francesca Rosamilia, Silvia Carestiato, Ettore Salsano, Isabella Ceccherini, Tiziana Bachetti

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Revisão
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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 mā Tiziana Bachetti, Ivana Matera, Silvia Borghini, Marco Di Duca, Roberto Ravazzolo, Isabella Ceccherini

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Giovanna Patrone, Francesca Puppo, Roberto Cusano, Monica Scaranari, Isabella Ceccherini, Aldamaria Puliti, Roberto Ravazzolo

    I whakaputaina 2000
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā Alessio Pini Prato, Marco Musso, Isabella Ceccherini, Girolamo Mattioli, Camilla Giunta, Gian Marco Ghiggeri, Vincenzo Jasonni

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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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. mā Cristina Romei, Rossella Elisei, Aldo Pinchera, Isabella Ceccherini, Eleonora Molinaro, Francesco Mancusi, E. Martino, G Romeo, Furio Pacini

    I whakaputaina 1996
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Can MR Imaging Diagnose Adult-Onset Alexander Disease?

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

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Debra E. Weese‐Mayer, Casey M. Rand, Elizabeth Berry‐Kravis, Larry Jennings, Darius Loghmanee, Pallavi P. Patwari, Isabella Ceccherini

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Mirco Ponzoni, Tiziana Bachetti, Maria Valeria Corrias, Chiara Brignole, Fabio Pastorino, Enzo Calarco, Veronica Bensa, Elena Giusto, Isabella Ceccherini, Patrizia Perri

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Davide Ceresa, Francesco Alessandrini, Sara Lucchini, Daniela Marubbi, Francesca Piaggio, Jorge Miguel Mena Vera, Isabella Ceccherini, Daniele Reverberi, Irene Appolloni, Paolo Malatesta

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Stacey Arnold, Anna Pelet, Jeanne Amiel, Salud Borrego, Robert M.W. Hofstra, Paul Tam, Isabella Ceccherini, Stanislas Lyonnet, Stephanie L. Sherman, Aravinda Chakravarti

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Yin Luo, Isabella Ceccherini, Barbara Pasini, Ivana Matera, Maria Patrizia Bicocchi, Virginia Barone, Renata Bocclardi, Helena Kääriänen, D. Weber, Marcella Devoto, Giovanni Romeo

    I whakaputaina 1993
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā 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

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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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) mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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... mā 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

    I whakaputaina 2004
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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