検索結果 - Teresa Mattina

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  1. 1
    Jacobsen syndrome

    Jacobsen syndrome 著者: Teresa Mattina, Concetta Simona Perrotta, Paul Grossfeld

    出版事項 2009
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    Revisão
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  2. 2
    Craniofacial characteristics of fragile X syndrome in mouse and man

    Craniofacial characteristics of fragile X syndrome in mouse and man 著者: Inge Heulens, Michael Suttie, Andrei Postnov, Nora De Clerck, Concetta Simona Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, R. Frank Kooy, Peter Hammond

    出版事項 2012
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    Artigo
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  3. 3
    Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

    Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice 著者: Maoqing Ye, Chris D. Coldren, Xingqun Liang, Teresa Mattina, Elizabeth Goldmuntz, D. Woodrow Benson, D. Dunbar Ivy, M. Benjamin Perryman, Lee Ann Garrett‐Sinha, Paul Grossfeld

    出版事項 2009
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    Artigo
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  4. 4
    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome 著者: Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij‐Arts, Raoul C. M. Hennekam

    出版事項 2023
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    Artigo
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  5. 5
    Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

    Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation 著者: Elena Rossi, Mariluce Riegel, Jole Messa, Stefania Gimelli, P Maraschio, Roberto Ciccone, Michela Stroppi, Paola Riva, Concetta Simona Perrotta, Teresa Mattina, L. Memo, Alessandra Baumer, Vaidutis Kučinskas, Claudio Castellan, Albert Schinzel, Orsetta Zuffardi

    出版事項 2007
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    Artigo
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  6. 6
    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

    13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 著者: Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, P Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, O. Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino

    出版事項 2006
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    Carta
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  7. 7
    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery 著者: Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh Carmody, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica Muñoz‐Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    出版事項 2024
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    Pré-impressão
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  8. 8
    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery 著者: Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica C. Munoz-Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    出版事項 2024
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    Artigo
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  9. 9
    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients 著者: Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi

    出版事項 2007
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    Artigo
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  10. 10
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients 著者: Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

    出版事項 2011
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    Artigo
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  11. 11
    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 著者: David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra‐Knol, Jessie H. Conta, Ana María Fortuna, Gabriele Gillessen‐Kaesbach, Sarah Dugan, Sara Halbach, Omar Abdul‐Rahman, Heather M Winesett, Wendy K. Chung, Marguerite B. Dalton, Petia Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir‐Kwa, Marjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C.J. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Õunap, Lynne M. Bird, Diane Masser‐Frye, Jennifer Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesús Flórez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gécz, Corrado Romano, Evan E. Eichler, Bert BA de Vries

    出版事項 2015
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    Artigo
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  12. 12
    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 著者: Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

    出版事項 2018
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    Artigo
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