Canlyniadau Chwilio

A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes gan Kelly L. Jones, Ulrike Schwarze, Margaret P Adam, Peter H. Byers, Heather C. Mefford

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Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome gan Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

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Hypomelanosis of Ito. Neurological Complications in 34 Cases gan I Pascual-Castroviejo, Luisa López-Rodriguez, María de la Cruz Medina, Cipriano Salamanca-Maesso, Carmen Roche Herrero

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Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy gan Leah R. Fleming, Monica E. Lemmon, Natalie Beck, Maria R. Johnson, Weiyi Mu, David R. Murdock, Joann Bodurtha, Julie Hoover‐Fong, Ronald D. Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

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The First Arch Syndrome gan John S. McKenzie

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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome gan Peter Hammond, Femke Hannes, Michael Suttie, Koenraad Devriendt, Joris Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steven Williams, Dominic McMullan, Sarah T. South, John C. Carey, Oliver Quarrell

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King-Denborough Syndrome: report of two Brazilian cases gan Umbertina Conti Reed, M.B.D. Resende, Lúcio Gobbo Ferreira, Mary S. Carvalho, Aron J. Diament, Milberto Scaff, Suely Kazue Nagahashi Marie

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Anterior encephalocele – AIIMS experience a series of 133 patients gan AK Mahapatra

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MID1 mutations in patients with X-linked Opitz G/BBB syndrome gan Bianca Fontanella, Giorgio Russolillo, Germana Meroni

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Noonan syndrome: a clinical and genetic study of 31 patients gan Débora Romeo Bertola, Sofia M. M. Sugayama, Lílian Maria José Albano, Chong Ae Kim, Claudette Hajaj Gonzalez

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LEOPARD Syndrome: Clinical Features and Gene Mutations gan Efrén Martínez‐Quintana, F. Rodríguez-González

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Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB gan Tatiana Vialôgo Cassab, Sthella Zanchetta, Célia Maria Giacheti, Neivo Luiz Zorzetto, Antônio Richieri‐Costa

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Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study gan Elizabeth A. Manci, José E. Martínez, Marcelo G. Horenstein, Todd M. Gardner, Arsalan Ahmed, M. Mancao, David A. Gremse, David M. Gardner, Prasit Nimityongskul, Paul Maertens, LeRoy Riddick, Maria Inês Kavamura

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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 gan Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, A.M.W. van den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen

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Giant Cell Lesions in Noonan Syndrome: Case Report and Review of The Literature gan Andréia Bufalino, Manoela Carrera, Román Carlos, Ricardo D. Coletta

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Mowat-Wilson syndrome gan Livia Garavelli, Paola Cerruti Mainardi

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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases gan Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz

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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported gan C. Q. Fagali, Fernando Kok, Pablo Domingos Rodrigues de Nicola, Chong Ae Kim, Débora Romeo Bertola, Lílian Maria José Albano, Célia Priszkulnik Koiffmann

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Meningoencefalocele transesfenoidal transpalatina gan Marcia Cristina Lauria de Moraes Monteiro, António Albuquerque, Márcio Costa Nobre, Adriano Teixeira Veloso, Vandete Aguiar Mendes, Lucídio Duarte de Souza Filho, Marcelo José da Silva, Geraldo Vítor Cardoso Bicalho

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Anterior Encephaloceles: A Study of 92 Cases gan Ashok Kumar Mahapatra, Amit Suri

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