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Avaliação odontológica em pacientes com síndrome de Kabuki door Camila Santos Teixeira

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GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau... door Ping Yee Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, François Bernier, Marcia Ferguson, David Valle, Jillian S. Parboosingh, Nara Sobreira, A. Micheil Innes, Antonie D. Kline

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum door Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

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Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome door Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, Yeoun Joo Lee, Ji Song, Jea Woo Moon, Bo Yang, Il Soo Ha, Eun Jung Bae, Hyun‐Seok Jin, Seon-Yong Jeong

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<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome door Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun‐ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko‐ichiro Yoshiura, Naomichi Matsumoto, Norio Niikawa

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Kabuki make-up syndrome door Ana Paula T. Gabrieli, Fernanda Velho Rovaris, Laura E Laine Bisol, Lívia Borges, Marja Mandelli Michelin, Louise Lovatto

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Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features door Mariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, Akihiro Fujikawa, Kazuya Kuboyama, Yasushi Takéuchi, Zafar Nawaz, Javad Nadaf, Hussein Kamel, Abu Khadija Kitam, Zaineddin Samiha, Laila Mahmoud, Tawfeg Ben‐Omran, Jacek Majewski, Masaharu Noda

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Kabuki Syndrome: a case report with severe ocular abnormalities door Flávio Mac Cord Medina, Pamela Rodríguez, Renata Tavares de Souza Cabral, Marcia Brazuna de Castro, Juan Clinton Llerena, Ricardo Miguel Japiassú

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Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome door Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, Marianne Crespin, S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin

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KDM6A Point Mutations Cause Kabuki Syndrome door Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Hirofumi Ohashi, Masaaki Shiina, Kazuhiro Ogata, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Norio Niikawa, Naomichi Matsumoto

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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome door Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan Holder, Gabriele Gillessen‐Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen‐Snuijf, Sarina G. Kant, Lies H. Hoefsloot, William Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath

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CHARGE and Kabuki syndromes: a phenotypic and molecular link door Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Knut Brockmann, Nina Bögershausen, Jutta Becker, Bernd Wollnik, Silke Pauli

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Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome door Mark C. Hannibal, Kati J. Buckingham, Sarah Ng, Jeffrey E. Ming, Anita Beck, Margaret J. McMillin, Heidi Gildersleeve, Abigail W. Bigham, Holly K. Tabor, Heather C. Mefford, Joseph Cook, Koh‐ichiro Yoshiura, Tadashi Matsumoto, Naomichi Matsumoto, Noriko Miyake, Hidefumi Tonoki, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Hirofumi Ohashi, Kenji Kurosawa, Jia‐Woei Hou, Tohru Ohta, Deshung Liang, Akira Sudo, Colleen A. Morris, Siddharth Banka, Graeme Black, Jill Clayton‐Smith, Deborah A. Nickerson, Elaine H. Zackai, Tamim H. Shaikh, Dian Donnai, Norio Niikawa, Jay Shendure, Michael J. Bamshad

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome door Nicole Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Connie Schrander‐Stumpel, Damien Sanlaville, David Geneviève, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, J P Fryns, Joris Vermeesch

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Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child door Bianca Mota dos Santos, Roberta Rezende Ribeiro, Adriana Sasso Stuani, Francisco Wanderley Garcia Paula‐Silva, Alexandra Mussolino de Queiroz

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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease door Chee‐Seng Ku, Constantin Polychronakos, Eng‐King Tan, Nasheen Naidoo, Yudi Pawitan, Dimitrios H Roukos, Matthew Mort, D.N. Cooper

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome door Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark C. Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure

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Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients door 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

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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome door Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Şimşek‐Kiper, Filippo Beleggia, E. Ferda Perçin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay, Hülya Kayserili, Yicheng Liu, Siddharth Banka, Andrea Kranz, Martin Zenker, Dagmar Wieczorek, Nursel Elçioğlu, Paolo Prontera, Stanislas Lyonnet, Thomas Meitinger, Aengus Stewart, Dian Donnai, Tim M. Strom, Koray Boduroğlu, Gökhan Yigit, Yun Li, Nicholas Katsanis, Bernd Wollnik

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Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome door Hans T. Björnsson, Joel S. Benjamin, Li Zhang, Jacqueline Weissman, Elizabeth E. Gerber, Yi‐Chun Chen, Rebecca Vaurio, Michelle Potter, Kasper D. Hansen, Harry C. Dietz

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