Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability von Gribble, Susan, Rosenberg, Carla, de Silva, Rohan, Kalaitzopoulos, Dimitrios, Cumming, Sally, Dunn, Carolyn, Rickman, Lisa, Lees, Andrew J, Prigmore, Elena, Porter, Keith, Koiffmann, Celia P, Carter, Nigel P, Shaw-Smith, Charles, Martin, Howard, Curley, Rebecca, Willatt, Lionel, Krepischi-Santos, Ana C V, Pittman, Alan M, Varela, Monica C, Firth, Helen V

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Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements von D'Angelo, Carla S, Gajecka, Marzena, Kim, Chong A, Gentles, Andrew J, Glotzbach, Caron D, Shaffer, Lisa G, Koiffmann, Célia P

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A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review von Carvalho, Laura M.L., D’Angelo, Carla S., Mustacchi, Zan, da Silva, Israel T., Krepischi, Ana Cristina V., Koiffmann, Celia P., Rosenberg, Carla

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Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint von Valente, Kette D, Varela, Monica Castro, Koiffmann, Celia Priszkulnik, Andrade, Joaquina Queiroz, Grossmann, Rosi, Kok, Fernando, Marques-Dias, Maria Joaquina

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Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency von Capelli, Leonardo P, Krepischi, Ana C.V, Gurgel-Giannetti, Juliana, Mendes, Mirian Fabiola S, Rodrigues, Tatiane, Varela, Monica C, Koiffmann, Célia P, Rosenberg, Carla

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Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects von CASTRO VARELA, Monica, KOK, Fernando, OTTO, Paulo Alberto, PRISZKULNIK KOIFFMANN, Celia

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Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta) von Doyle, Esmeralda D., Prates, Ivan, Sampaio, Iracilda, Koiffmann, Celia, Silva, Wilson Araujo, Carnaval, Ana Carolina, Harris, Eugene E.

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Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity von D'Angelo, Carla S., Moller dos Santos, Mauren F., Alonso, Luis G., Koiffmann, Celia P.

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Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches von D'Angelo, Carla Sustek, Koiffmann, Celia Priszkulnik

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Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR von Cunha, Pricila da Silva, Pena, Heloisa B., D'Angelo, Carla Sustek, Koiffmann, Celia Priszkulnik, Rosenfeld, Jill A., Shaffer, Lisa G., Stofanko, Martin, Gonçalves-Dornelas, Higgor, Pena, Sérgio Danilo Junho

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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity von D'Angelo, Carla Sustek, Varela, Monica Castro, de Castro, Claudia Irene Emílio, Otto, Paulo Alberto, Perez, Ana Beatriz Alvarez, Lourenço, Charles Marques, Kim, Chong Ae, Bertola, Debora Romeo, Kok, Fernando, Garcia-Alonso, Luis, Koiffmann, Celia Priszkulnik

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Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using... von D'Angelo, Carla S, Varela, Monica C, de Castro, Cláudia Ie, Kim, Chong A, Bertola, Débora R, Lourenço, Charles M, Perez, Ana Beatriz A, Koiffmann, Celia P

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Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? von Silva, Amanda G, Krepischi, Ana C V, Torrezan, Giovana T, Capelli, Leonardo P, Carraro, Dirce M, D'Angelo, Carla S, Koiffmann, Celia P, Zatz, Mayana, Naslavsky, Michel S, Masotti, Cibele, Otto, Paulo A, Achatz, Maria I W, Mills, Ryan E, Lee, Charles, Pearson, Peter L, Rosenberg, Carla

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An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior von D'Angelo, Carla S., Jehee, Fernanda S., Koiffmann, Célia Priszkulnik

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Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and be... von D'Angelo, Carla S., Da Paz, José A., Kim, Chong A., Bertola, Débora R., Castro, Claudia I.E., Varela, Monica C., Koiffmann, Célia P.

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Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations von Valente, Kette D., Andrade, Joaquina Q., Grossmann, Rosi M., Kok, Fernando, Fridman, Cintia, Koiffmann, Célia P., Marques‐Dias, Maria J.

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A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome von Quaio, Caio Robledo D'Angioli Costa, de Almeida, Tatiana Ferreira, Albano, Lilian Maria José, Gomy, Israel, Bertola, Debora Romeo, Varela, Monica Castro, Koiffmann, Celia P, Kim, Chong Ae

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Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia von D'Angelo, Carla S., Kohl, Ilana, Varela, Monica Castro, de Castro, Cláudia I.E., Kim, Chong A., Bertola, Débora R., Lourenço, Charles M., Koiffmann, Célia P.

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A new case of interstitial 6q16.2 deletion in a patient with Prader–Willi-like phenotype and investigation of  SIM1 gene deletion in 87 patients with syndromic obesity von Varela, Monica C., Simões-Sato, Alex Y., Kim, Chong A., Bertola, Débora R., De Castro, Claudia I.E., Koiffmann, Celia P.

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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins von Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel‐Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V. M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S. V., Brüggenwirth, Hennie T., Ali‐Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.

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