Hasil Pencarian - Maria Paola Recalcati

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  1. 1
    Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

    Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome oleh Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, Silvia Russo, Eleonora Orlandini, Lidia Larizza, Maria Paola Recalcati

    Diterbitkan 2020-11-01
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  2. 2
    Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

    Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes oleh Angela Peron, Angela Peron, Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini

    Diterbitkan 2020-12-01
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  3. 3
    New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

    New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review oleh Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D’Amico, Sabrina Signorini, Umberto Balottin, Stefano Bastianello

    Diterbitkan 2018-09-01
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  4. 4
    Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region

    Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region oleh Serena Redaelli, Donatella Conconi, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Ilaria Catusi, Chiara Valtorta, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Angela Bentivegna

    Diterbitkan 2022-03-01
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  5. 5
    Human Chromosome 18 and Acrocentrics: A Dangerous Liaison

    Human Chromosome 18 and Acrocentrics: A Dangerous Liaison oleh Nicoletta Villa, Serena Redaelli, Elena Sala, Donatella Conconi, Lorenza Romitti, Emanuela Manfredini, Francesca Crosti, Gaia Roversi, Marialuisa Lavitrano, Ornella Rodeschini, Maria Paola Recalcati, Rocco Piazza, Leda Dalprà, Paola Riva, Angela Bentivegna

    Diterbitkan 2021-05-01
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  6. 6
    Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

    Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases oleh Serena Redaelli, Donatella Conconi, Nicoletta Villa, Elena Sala, Francesca Crosti, Cecilia Corti, Ilaria Catusi, Maria Garzo, Lorenza Romitti, Emanuela Martinoli, Antonella Patrizi, Roberta Malgara, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Gaia Roversi, Angela Bentivegna

    Diterbitkan 2020-05-01
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  7. 7
    Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

    Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features oleh Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Luca Persani, Palma Finelli, Palma Finelli, Silvia Russo, Laura Fugazzola, Laura Fugazzola

    Diterbitkan 2018-11-01
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  8. 8
    Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

    Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? oleh Serena Redaelli, Francesca Romana Grati, Viviana Tritto, Giuliana Giannuzzi, Maria Paola Recalcati, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Francesca Malvestiti, Valentina Zanatta, Elena Repetti, Ornella Rodeschini, Chiara Valtorta, Ilaria Catusi, Lorenza Romitti, Emanuela Martinoli, Donatella Conconi, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Angela Bentivegna

    Diterbitkan 2024-04-01
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  9. 9
    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity oleh Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

    Diterbitkan 2023-01-01
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  10. 10
    Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

    Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate oleh Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino

    Diterbitkan 2020-01-01
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