Search Results - "Koiffmann, Célia"

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia by 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.

“…Rearrangements of 1p36 are the most frequently detected abnormalities in diagnostic testing for chromosomal cryptic imbalances and include variably sized…”
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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins by 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.

“…We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader–Willi syndrome and Pitt–Hopkins…”
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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported by Fagali, Claudia, Kok, Fernando, Nicola, Pablo, Kim, Chong, Bertola, Débora, Albano, Lílian, Koiffmann, Célia P

“…Abstract Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt…”
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Synteny of human chromosomes 14 and 15 in the platyrrhines (Primates, Platyrrhini) by Gifalli-Iughetti, Cristiani, Koiffmann, Célia P

“…In order to study the intra- and interspecific variability of the 14/15 association in Platyrrhini, we analyzed 15 species from 13 genera, including species…”
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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability by 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

“…Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals…”
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Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis? by Valente, Kette D., Freitas, Alessandra, Fridman, Cintia, Varela, Mônica, Silva, Ana Elizabete, Fett, Agnes C., Koiffmann, Célia P.

“…To study the electroclinical phenotype in 5 patients with large supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the…”
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Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns by Valente, Kette D., Fridman, Cintia, Varela, Monica C., Koiffmann, Célia P., Andrade, Joaquina Q., Grossmann, Rosi M., Kok, Fernando, Marques-Dias, Maria J.

“…The authors describe the electroclinical phenotype of four patients with Angelman syndrome (AS) determined by its rarest genetic mechanism—uniparental disomy…”
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A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review by Carvalho, Laura M.L., D’Angelo, Carla S., Mustacchi, Zan, da Silva, Israel T., Krepischi, Ana Cristina V., Koiffmann, Celia P., Rosenberg, Carla

“…•Forms of syndromic obesity are cases in which obesity occurs with additional phenotypes (e.g. intellectual disability, organ-specific developmental…”
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Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint by Valente, Kette D, Varela, Monica Castro, Koiffmann, Celia Priszkulnik, Andrade, Joaquina Queiroz, Grossmann, Rosi, Kok, Fernando, Marques-Dias, Maria Joaquina

“…Summary Objectives Deletion of the chromosome 15q11-q13, the most common genetic mechanism associated with Angelman syndrome (AS), is highly associated with a…”
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Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements by D'Angelo, Carla S, Gajecka, Marzena, Kim, Chong A, Gentles, Andrew J, Glotzbach, Caron D, Shaffer, Lisa G, Koiffmann, Célia P

“…The mechanisms involved in the formation of subtelomeric rearrangements are now beginning to be elucidated. Breakpoint sequencing analysis of 1p36…”
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Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency by Capelli, Leonardo P, Krepischi, Ana C.V, Gurgel-Giannetti, Juliana, Mendes, Mirian Fabiola S, Rodrigues, Tatiane, Varela, Monica C, Koiffmann, Célia P, Rosenberg, Carla

“…Abstract We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay,…”
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Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity by D'Angelo, Carla S., Moller dos Santos, Mauren F., Alonso, Luis G., Koiffmann, Celia P.

“…Obesity is a highly heritable but genetically heterogeneous disorder. Various well-known microdeletion syndromes (e.g. 1p36, 2q37, 6q16, 9q34, 17p11.2) can…”
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Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects by CASTRO VARELA, Monica, KOK, Fernando, OTTO, Paulo Alberto, PRISZKULNIK KOIFFMANN, Celia

“…Angelman syndrome (AS) can result from either a 15q11-q13 deletion (del), paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. Here, we describe…”
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Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR by 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

“…Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual…”
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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 synthetic probes by 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

“…Certain rare syndromes with developmental delay or intellectual disability caused by genomic copy number variants (CNVs), either deletions or duplications, are…”
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Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? by 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 by 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 behavioral problems by D'Angelo, Carla S., Da Paz, José A., Kim, Chong A., Bertola, Débora R., Castro, Claudia I.E., Varela, Monica C., Koiffmann, Célia P.

“…Monosomy 1p36 is one of the most commonly observed mental retardation (MR) syndromes that results in a clinically recognizable phenotype including delayed…”
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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity by 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

“…Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic…”
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Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q by Fridman, Cintia, Varela, Monica C, Nicholls, Robert D, Koiffmann, Célia P

“…We had previously described a patient with an overgrowth syndrome and the chromosome constitution 45,XY,t(15q15q) (Wajntal et al., DNA Cell Biol 1993: 12:…”
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