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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeBend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, BekimClinical epigenetics, 2019-04, Vol.11 (1), p.64-17, Article 64 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ABronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur SEuropean journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probandsCathey, S S ; Leroy, J G ; Wood, T ; Eaves, K ; Simensen, R J ; Kudo, M ; Stevenson, R E ; Friez, M JJournal of medical genetics, 2010-01, Vol.47 (1), p.38-48 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger EPediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]United States: Am Acad PediatricsTexto completo disponível |
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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau depositionGarbern, James Y. ; Neumann, Manuela ; Trojanowski, John Q. ; Lee, Virginia M.-Y. ; Feldman, Gerald ; Norris, Joy W. ; Friez, Michael J. ; Schwartz, Charles E. ; Stevenson, Roger ; Sima, Anders A. F.Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1391-1402 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasHelbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Uysal, Betül ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Billette de Villemeur, Thierry ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Smith, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; Goldmann, Eva ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; McCarrier, Julie ; Botto, Lorenzo D. ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; El Achkar, Christelle M. ; Smith, Lacey A. ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Banka, Siddharth ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Mefford, Heather C.American journal of human genetics, 2018-11, Vol.103 (5), p.666-678 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndromeHijazi, Hadia ; Coelho, Fernanda S. ; Gonzaga‐Jauregui, Claudia ; Bernardini, Laura ; Mar, Soe S. ; Manning, Melanie A. ; Hanson‐Kahn, Andrea ; Naidu, SakkuBai ; Srivastava, Siddharth ; Lee, Jennifer A. ; Jones, Julie R. ; Friez, Michael J. ; Alberico, Thomas ; Torres, Barbara ; Fang, Ping ; Cheung, Sau Wai ; Song, Xiaofei ; Davis‐Williams, Angelique ; Jornlin, Carly ; Wight, Patricia A. ; Patyal, Pankaj ; Taube, Jennifer ; Poretti, Andrea ; Inoue, Ken ; Zhang, Feng ; Pehlivan, Davut ; Carvalho, Claudia M. B. ; Hobson, Grace M. ; Lupski, James R.Human mutation, 2020-01, Vol.41 (1), p.150-168 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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Material Type: Artigo
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Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12Louie, Raymond J. ; Friez, Michael J. ; Skinner, Cindy ; Baraitser, Michael ; Clark, Robin D. ; Schwartz, Charles E. ; Stevenson, Roger E.American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.595-596 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett SyndromeMerritt, Jonathan K ; Fang, Xiaolan ; Caylor, Raymond C ; Skinner, Steven A ; Friez, Michael J ; Percy, Alan K ; Neul, Jeffrey LGenes, 2024-05, Vol.15 (5), p.594 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patientsNampoothiri, Sheela ; Elcioglu, Nursel H ; Koca, Suleyman S ; Yesodharan, Dhanya ; Kk, Chandrababu ; Krishnan, 5th, Vinod ; Bhat, Meenakshi ; Mohandas Nair K ; Radhakrishnan, Natasha ; Kappanayil, Mahesh ; Sheth, Jayesh J ; Alves, Sandra ; Coutinho, Francisca ; Friez, Michael J ; Pauli, Richard M ; Unger, Sheila ; Superti-Furga, Andrea ; Leroy, Jules G ; Cathey, Sara SClinical dysmorphology, 2019-01, Vol.28 (1), p.7-16 [Periódico revisado por pares]EnglandSem texto completo |