檢索結果 - Laura Bernardini

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  1. 1
    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? 由 Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, M. Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey, Bruno Dallapiccola

    出版 2009
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  2. 2
    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification 由 Alessandro De Luca, Irene Bottillo, Maria Cecilia D’Asdia, Annunziata Morella, Valentina Lanari, Laura Bernardini, Luigina Divona, Sandra Giustini, Lorenzo Sinibaldi, Antonio Novelli, Isabella Torrente, Annalisa Schirinzi, Bruno Dallapiccola

    出版 2007
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  3. 3
    Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

    Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports 由 Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola

    出版 2009
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  4. 4
    SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

    SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome 由 Cristina Gervasini, Francesca Romana Grati, Faustina Lalatta, Silvia Tabano, Barbara Gentilin, Patrizia Colapietro, Simona De Toffol, Giada Frontino, F. Motta, Silvia Maitz, Laura Bernardini, Bruno Dallapiccola, Luigi Fedele, Lidia Larizza, Monica Miozzo

    出版 2010
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  5. 5
    Permanent diabetes during the first year of life: multiple gene screening in 54 patients

    Permanent diabetes during the first year of life: multiple gene screening in 54 patients 由 L. Russo, Dario Iafusco, Sonia Brescianini, Valentina Nocerino, Carla Bizzarri, Sonia Toni, F. Cerutti, C. Monciotti, Roberta Pesavento, Lorenzo Iughetti, Laura Bernardini, Riccardo Bonfanti, Livio Gargantini, M Vanelli, Lydia Aguilar‐Bryan, Maria A. Stazi, V. Grasso, Carlo Colombo, Fabrizio Barbetti

    出版 2011
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  6. 6
    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 由 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

    出版 2010
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  7. 7
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome 由 Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia

    出版 2007
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  8. 8
    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 由 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

    出版 2012
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    Revisão
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  9. 9
    Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies

    Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies 由 Jessica Rosati, Daniela Ferrari, Filomena Altieri, Silvia Tardivo, Claudia Ricciolini, Caterina Fusilli, Cristina Zalfa, Daniela Celeste Profico, Francesca Pinos, Laura Bernardini, Bárbara Torres, Isabella Manni, Giulia Piaggio, Elena Binda, Massimiliano Copetti, Giuseppe Lamorte, Tommaso Mazza, Massimo Carella, Maurizio Gelati, Enza Maria Valente, Antonio Simeone, Angelo L. Vescovi

    出版 2018
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  10. 10
    Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

    Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles 由 Benjamin W. Darbro, Vinit B. Mahajan, Lokesh Gakhar, Jessica M. Skeie, Elizabeth Campbell, Shu Wu, Xinyu Bing, Kathleen J. Millen, William B. Dobyns, John A. Kessler, Ali Jalali, James F. Cremer, Alberto M. Segre, J. Robert Manak, Kimberly A. Aldinger, Satoshi Suzuki, Nagato Natsume, Maya Ono, Huynh Dai Hai, Le Thi Viet, Sara Loddo, Enza Maria Valente, Laura Bernardini, Nitin P. Ghonge, Polly J. Ferguson, Alexander G. Bassuk

    出版 2013
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  11. 11
    Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome

    Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome 由 Letizia Mazzini, Maurizio Gelati, Daniela Celeste Profico, Gianni Sorarù, Daniela Ferrari, Massimiliano Copetti, Gianmarco Muzi, Claudia Ricciolini, Sandro Carletti, Cesare Giorgi, Cristina Spera, Domenico Frondizi, Stefano Masiero, Alessandro Stecco, Carlo Cisari, Enrica Bersano, Fabiola De Marchi, Maria Francesca Sarnelli, Giorgia Querin, Roberto Cantello, F. Petruzzelli, Annamaria Maglione, Cristina Zalfa, Elena Binda, Alberto Visioli, Domenico Trombetta, Bárbara Torres, Laura Bernardini, Alessandra Gaiani, Maurilio Massara, Silvia Paolucci, Nicholas M. Boulis, Angelo L. Vescovi

    出版 2019
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  12. 12
    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome 由 Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Bárbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, P.A.L. Wight, Pankaj Patyal, Jennifer R. Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehli̇van, Claudia M.B. Carvalho, Grace M. Hobson, James R. Lupski

    出版 2019
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  13. 13
    Human neural stem cell transplantation in ALS: initial results from a phase I trial

    Human neural stem cell transplantation in ALS: initial results from a phase I trial 由 Letizia Mazzini, Maurizio Gelati, Daniela Celeste Profico, Giada Sgaravizzi, Massimo Projetti Pensi, Gianmarco Muzi, Claudia Ricciolini, Laura Rota Nodari, Sandro Carletti, Cesare Giorgi, Cristina Spera, Domenico Frondizi, Enrica Bersano, F. Petruzzelli, Carlo Cisari, Annamaria Maglione, Maria Francesca Sarnelli, Alessandro Stecco, Giorgia Querin, Stefano Masiero, Roberto Cantello, Daniela Ferrari, Cristina Zalfa, Elena Binda, Alberto Visioli, Domenico Trombetta, Antonio Novelli, Bárbara Torres, Laura Bernardini, Alessandro Carriero, Paolo Prandi, Serena Servo, Annalisa Cerino, Valentina Cima, Alessandra Gaiani, Nicola Nasuelli, Maurilio Massara, Jonathan D. Glass, Gianni Sorarù, Nicholas M. Boulis, Angelo L. Vescovi

    出版 2015
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  14. 14
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder 由 Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    出版 2017
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  15. 15
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome 由 Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    出版 2018
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  16. 16
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 由 Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    出版 2011
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  17. 17
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders 由 Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    出版 2017
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