Resultats de la cerca

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

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Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up per Francesco Nicita, Martino Ruggieri, Agata Polizzi, Laura Mauceri, Vincenzo Salpietro, Silvana Briuglia, Laura Papetti, Fabiana Ursitti, Salvatore Grosso, Luigi Tarani, Maria Segni, Salvatore Savasta, Pasquale Parisi, Alberto Verrotti, Alberto Spalice

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Subdural hemorrhage in pediatric patients with enlargement of the subarachnoid spaces per Heather McKeag, Cindy W. Christian, David M. Rubin, Carrie Daymont, Avrum N. Pollock, Joanne N. Wood

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Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism per Steven D. Klein, Pantea Sharifi‐Hannauer, Julián A. Martínez-Agosto

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Metastatic breast cancer in a man with nonprogressive ataxia and epilepsy per Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Adrialdo José Santos

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

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Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis per Roberto Sacco, Stefano Gabriele, Antonio M. Persico

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<scp>C</scp>anavan disease: Clinical features and recent advances in research per Hideki Hoshino, Masaya Kubota

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7q11.23 Duplication syndrome: Physical characteristics and natural history per Colleen A. Morris, Carolyn Β. Mervis, Alex P. Paciorkowski, Omar Abdul‐Rahman, Sarah Dugan, Alan F. Rope, Patricia I. Bader, Laura G. Hendon, Shelley L. Velleman, Bonnie Klein-Tasman, Lucy R. Osborne

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Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation per Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie Nguyen, Cyril Goizet, A. Gélot, Robert Surtees, Jean‐Michel Pédespan, X. Hernandoréna, M. Troncoso, G. Uziel, Albee Messing, G Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug‐Tanguy

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Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients per Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez‐Lara, Merlin G. Butler, Elaine H. Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph T.C. Shieh, John B. Moeschler, Barbara F. Crandall, Julie Lauzon, David Viskochil, Brian Harding, John M. Graham

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Watson syndrome: is it a subtype of type 1 neurofibromatosis? per Judith Allanson, Meena Upadhyaya, G. H. Watson, M. W. Partington, Alexander MacKenzie, D Lahey, H. H. B. Macleod, M. Sarfarazi, W Broadhead, Peter S. Harper

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Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report per Gabriela Maria Abreu Gontijo, Clóvis Antônio Lopes Pinto, Sílvia Regina Rogatto, Isabela Werneck da Cunha, Samuel Aguiar, Célia Antônia Xavier de Moraes Alves

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Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis per Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol‐Church

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Brain Magnetic Resonance Imaging in Patients With Cowden Syndrome per Catherine Lok, Valérie Viseux, M.-F. Avril, M.‐A. Richard, Catherine Gondry‐Jouet, H. Deramond, Caroline Desfossez-Tribout, Sandrine Courtade, M. Delaunay, F Piette, D. Legars, Brigitte Dréno, Philippe Saïag, Michel Longy, G. Lorette, L. Laroche, F. Caux

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Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly per Judith A. Hobert, Rebecca Embacher, Jessica L. Mester, Thomas Frazier, Charis Eng

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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes per Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, R.P. Trevor Cole, Nazneen Rahman

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant per Christelle Golzio, Jason R. Willer, Michael E. Talkowski, Edwin C. Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F. Gusella, Atsushi Kamiya, J. Beckmann, Nicholas Katsanis

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Benign external hydrocephalus: a review, with emphasis on management per Sverre Morten Zahl, Arild Egge, Eirik Helseth, Knut Wester

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

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