Resultados da busca - Mattia Gentile

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  1. 1
    Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

    Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide por Giuseppe Castellana, Giorgio Castellana, Mattia Gentile, Roberto Castellana, Onofrio Resta

    Publicado em 2015
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  2. 2
    Appearance of fetal posterior fossa at 11–14 weeks in fetuses with Dandy–Walker malformation or chromosomal anomalies

    Appearance of fetal posterior fossa at 11–14 weeks in fetuses with Dandy–Walker malformation or chromosomal anomalies por Paolo Volpe, E. Contro, Tiziana Fanelli, B. Muto, G. Pilu, Mattia Gentile

    Publicado em 2015
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  3. 3
    Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis

    Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis por Ginevra Guanti, Nicoletta Resta, Cristiano Simone, Filomena Cariola, I. Demma, P. Fiorente, Mattia Gentile

    Publicado em 2000
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  4. 4
    Non-syndromic multiple supernumerary teeth in a family unit with a normal karyotype: case report

    Non-syndromic multiple supernumerary teeth in a family unit with a normal karyotype: case report por Francesco Inchingolo, Marco Tatullo, Fabio Massimo Abenavoli, Massimo Marrelli, Alessio Danilo Inchingolo, Mattia Gentile, Angelo Michele Inchingolo, Gianna Dipalma

    Publicado em 2010
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  5. 5
    Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases

    Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases por Paolo Volpe, D. Paladini, M. Marasini, Angela Buonadonna, Maria Giovanna Russo, G Caruso, Andrea Marzullo, M. Vassallo, Pasquale Martinelli, Mattia Gentile

    Publicado em 2003
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  6. 6
    Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus

    Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus por Paolo Volpe, D. Paladini, M. Resta, Antonio Stanziano, Marco Salvatore, Mario Quarantelli, V. De Robertis, Angela Buonadonna, G Caruso, Mattia Gentile

    Publicado em 2006
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  7. 7
    Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the <i>MYH</i> gene in Italian patients with adenomatous polyposis coli and colorectal adenomas

    Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the <i>MYH</i> gene in Italian patients with adenomatous polyposis coli and colorectal adenomas por Viviana Gismondi, Maurizio Meta, L Bonelli, Paolo Radice, Paola Sala, Lucio Bertario, Alessandra Viel, Mara Fornasarig, Arrigo Arrigoni, Mattia Gentile, Maurizio Ponz de Leòn, Luca Anselmi, Cristina Mareni, Paolo Bruzzi, Liliana Varesco

    Publicado em 2004
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  8. 8
    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations

    Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutations por Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Francesco Mari, Lucio Parmeggiani, Elena Procopio, Tiziana Metitieri, Elena Cellini, Simona Virdò, Dalila De Vita, Mattia Gentile, Paolo Prontera, Paolo Calabresi, Renzo Guerrini

    Publicado em 2017
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  9. 9
    <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

    <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia por Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández‐Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets

    Publicado em 2022
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  10. 10
    Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

    Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 por Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar A. Prada‐Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

    Publicado em 2023
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  11. 11
    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 por Antonio Novelli, Francesca Romana Grati, Lucia Ballarati, Laura Bernardini, Domenico Bizzoco, Lamberto Camurri, Rosario Casalone, L Cardarelli, Pietro Cavalli, Roberto Ciccone, M. Clementi, Leda Dalprà, Mattia Gentile, G Gelli, Paola Grammatico, Michela Malacarne, Anna Maria Nardone, Vanna Pecile, Giuseppe Simoni, Orsetta Zuffardi, Daniela Giardino

    Publicado em 2012
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  12. 12
    Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

    Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report por Alessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia, Sabino Ceci, Angelo Michele Inchingolo, Grazia Marinelli, Giuseppina Malcangi, Valentina Montenegro, Claudia Laudadio, Giulia Palmieri, Ioana Roxana Bordea, Emanuela Ponzi, Paola Orsini, Romina Ficarella, Antônio Scarano, Felice Lorusso, Gianna Dipalma, Massimo Corsalini, Mattia Gentile, Daniela Di Venere, Francesco Inchingolo

    Publicado em 2021
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  13. 13
    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function por Alex R. Paciorkowski, Liu Lin Thio, Jill A. Rosenfeld, Marzena Gajęcka, Christina A. Gurnett, Shashikant Kulkarni, Wendy K. Chung, Eric D. Marsh, Mattia Gentile, James D. Reggin, James W. Wheless, Sandhya Balasubramanian, Ravinesh A. Kumar, Susan L. Christian, Carla Marini, Renzo Guerrini, Natalia Maltsev, Lisa G. Shaffer, William B. Dobyns

    Publicado em 2011
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  14. 14
    <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 por 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

    Publicado em 2008
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  15. 15
    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) por D Doherty, Melissa A. Parisi, Laura S. Finn, Meral Gunay‐Aygun, Majeed Al-Mateen, Daniel Bates, Carol L. Clericuzio, Hülya Demır, Michael O. Dorschner, Anthonie J. van Essen, William A. Gahl, Mattia Gentile, Nicholas T. Gorden, Abigail Hikida, Dana Knutzen, Hamìt Özyürek, Ian G. Phelps, Phillip Rosenthal, Alain Verloès, Heike Weigand, P. F. Chance, William B. Dobyns, Ian Glass

    Publicado em 2009
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  16. 16
    Rfx6 directs islet formation and insulin production in mice and humans

    Rfx6 directs islet formation and insulin production in mice and humans por Stuart B. Smith, Hui‐Qi Qu, Nadine Taleb, Nina Kishimoto, David Scheel, Yang Lü, Ann‐Marie Patch, R. Grabs, Juehu Wang, Francis C. Lynn, Takeshi Miyatsuka, John J. Mitchell, Rina Seerke, Julie Désir, Serge Vanden Eijnden, Marc Abramowicz, N. Kacet, Jacques Weill, Marie-Ève Renard, Mattia Gentile, Inger Marie Jensen Hansen, Ken Dewar, Andrew T. Hattersley, Rennian Wang, Maria E. Wilson, Jeffrey D. Johnson, Constantin Polychronakos, Michael S. German

    Publicado em 2010
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  17. 17
    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? por Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bökenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin, Amira Davis, Georges Deschênes, Mattia Gentile, Mario Giordano, Andrew K. Gormley, Rajeshree Govender, Mark Joseph, Kory Keller, Evelyne Lerut, Elena Levtchenko, Laura Massella, Christy Mayfield, Behzad Najafian, David M. Parham, Jürgen W. Spranger, Peter Stenzel, Uluç Yiş, Zhongxin Yu, Jonathan Zonana, Glenda Hendson, Cornelius F. Boerkoel

    Publicado em 2016
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