Ngā hua rapu - Miriam Iannicelli

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  1. 1
    Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

    Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome mā Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, O Boudghène-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, A. Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement mā Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lončarević, Vlatka Mejaški‐Bošnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo Salpietro, Sabrina Signorini, Gilda Stringini, Alain Verloès, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI mā Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry A.G.M. Huisman, Miriam Iannicelli, Gerhard Kluger, Mårten Kyllerman, Magnus Landgren, Melissa Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E. Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders mā Lorena Travaglini, Francesco Brancati, Jennifer L. Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben‐Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M. de Jong, Hülya Kayserili, Gönül Oğur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S. Zaki, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson, Enza Maria Valente

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies mā Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium mā Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel Doherty, Enza Maria Valente, Joseph G. Gleeson

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus mā Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al‐Gazali, Sophie Thomas, Erica E. Davis, Stephanie Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié‐Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, László Sztriha, Elizabeth R. Waters, Susan Ferro‐Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes mā Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymańska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica E. Davis, Mario Mikula, Charles M. Strom, Bruria Ben‐Zeev, Dorit Lev, T. Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, J. Roume, Stavit A. Shalev, Arnold Münnich, Sophie Saunier, Chris F. Inglehearn, Ali Saâd, Adila Al‐Kindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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