Publications by authors named "Celia Koiffmann"

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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Giovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, Bruna Lucheze Freire, Thais Kataoka Homma, Celia Priszkulnik Koiffmann

J Autism Dev Disord· March 2024

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Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Laura Machado Lara Carvalho, Elisa Varella Branco, Raquel Delgado Sarafian, Gerson Shigeru Kobayashi, Fabiano Tófoli de Araújo, Celia Priszkulnik Koiffmann

Gene· June 2023

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Genetic investigation of syndromic forms of obesity.
Laura Machado Lara Carvalho, Carla Sustek D'Angelo, Darine Villela, Silvia Souza da Costa, Alexander Augusto de Lima Jorge, Celia Priszkulnik Koiffmann

Int J Obes (Lond)· September 2022

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

Obes Res Clin Pract· September 2021

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Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta).
Esmeralda D Doyle, Ivan Prates, Iracilda Sampaio, Celia Koiffmann, Wilson Araujo Silva

Primates· January 2021

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PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW.
Caroline Buff Gouveia Passone, Paula Lage Pasqualucci, Ruth Rocha Franco, Simone Sakura Ito, Larissa Baldini Farjalla Mattar, Celia Priszkulnik Koiffmann

Rev Paul Pediatr· May 2019

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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
Carla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Celia Priszkulnik Koiffmann

Mol Cytogenet· February 2018

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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Fernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, Rafaella X Pietra, Fernando V M Rubatino, Célia Koiffmann

Am J Med Genet A· September 2017

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

Mol Syndromol· July 2015

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Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.
Pricila da Silva Cunha, Heloisa B Pena, Carla Sustek D'Angelo, Celia P Koiffmann, Jill A Rosenfeld

Dis Markers· January 2015

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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.
Carla S D'Angelo, Monica C Varela, Cláudia Ie de Castro, Chong A Kim, Débora R Bertola, Celia P Koiffmann

Mol Cytogenet· November 2014

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Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Amanda G Silva, Ana C V Krepischi, Giovana T Torrezan, Leonardo P Capelli, Dirce M Carraro, Celia P Koiffmann

Eur J Hum Genet· March 2014

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Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.
Kette D Valente, Monica Castro Varela, Celia Priszkulnik Koiffmann, Joaquina Queiroz Andrade, Rosi Grossmann

Epilepsy Res· July 2013

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Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.
Carla Sustek D'Angelo, Celia Priszkulnik Koiffmann

J Obes· May 2013

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Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.
Carla Sustek D'Angelo, Ilana Kohl, Monica Castro Varela, Cláudia Irene Emílio de Castro, Chong Ae Kim, Celia Priszkulnik Koiffmann

Am J Med Genet A· March 2013

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A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome.
Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola, Celia P Koiffmann

Clinics (Sao Paulo)· August 2012

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

Eur J Med Genet· February 2012

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Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.
Carla S D'Angelo, Mariana A de Oliveira, Claudia I E de Castro, Celia P Koiffmann

Am J Med Genet A· December 2010

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A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
Ade Nubia Xavier Pacanaro, Denise Maria Christofolini, Leslie Domenici Kulikowski, Sintia Iole Nogueira Belangero, Fernanda Teixeira da Silva Bellucco, Celia P Koiffmann

Am J Med Genet A· March 2010

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

Am J Med Genet A· January 2010

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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
Claudia Fagali, Fernando Kok, Pablo Nicola, Chong Kim, Débora Bertola, Célia P Koiffmann

Eur J Med Genet· November 2009

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Synteny of human chromosomes 14 and 15 in the platyrrhines (Primates, Platyrrhini).
Cristiani Gifalli-Iughetti, Célia P Koiffmann

Genet Mol Biol· October 2009

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Infantile autism and 47,XYY karyotype.
Evelyn Kuczynski, Débora Romeo Bertola, Cláudia Irene Emílio de Castro, Célia Priszkulnik Koiffmann, Chong A Kim

Arq Neuropsiquiatr· September 2009

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

Hum Genet· June 2009

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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.
Carla S D'Angelo, Fernanda S Jehee, Célia Priszkulnik Koiffmann

Am J Med Genet A· August 2007

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