Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

por Romeo Bertola, Débora, Honjo, Rachel S., Baratela, Wagner A.R.
Publicado en Mol Syndromol (2016)

Genética na prática pediátrica /

por Kim, Chong Ae, Albano, Lilian Maria José, Bertola, Débora Romeo
Publicado 2010.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl...

por Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Publicado 2013

Genetics and genomics in Brazil: a promising future

por Passos-Bueno, Maria Rita, Bertola, Debora, Horovitz, Dafne Dain Gandelman, de Faria Ferraz, Victor Evangelista, Brito, Luciano Abreu
Publicado 2014

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

por Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R
Publicado en Genet Mol Biol (2018)

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

por Dutra, Roberta Lelis, de Campos Pieri, Patrícia, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae
Publicado 2011

Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp

por Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.
Publicado en Am J Med Genet A (2017)

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

por Dutra Roberta L, Honjo Rachel S, Kulikowski Leslie D, Fonseca Fernanda M, Pieri Patrícia C, Jehee Fernanda S, Bertola Debora R, Kim Chong A
Publicado 2012-01-01

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

por Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Publicado 2012

Visceral Myopathy: Clinical and Molecular Survey of a Cohort of Seven New Patients and State of the Art of Overlapping Phenotypes

por Moreno, Carolina Araujo, Metze, Konradin, Lomazi, Elizete Aparecida, Bertola, Débora Romeo, Barbosa, Ricardo Henrique Almeida, Cosentino, Viviana, Sobreira, Nara, Cavalcanti, Denise Pontes
Publicado en Am J Med Genet A (2016)

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

por Gray, Mary J, Kim, Chong Ae, Bertola, Debora Romeo, Arantes, Paula Ricci, Stewart, Helen, Simpson, Michael A, Irving, Melita D, Robertson, Stephen P
Publicado 2012

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

por Hatagami Marques, Júlia, Lopes Yamamoto, Guilherme, de Cássia Testai, Larissa, da Costa Pereira, Alexandre, Kim, Chong Ae, Passos-Bueno, Maria R., Romeo Bertola, Débora
Publicado en Mol Syndromol (2015)

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using...

por 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
Publicado en Mol Cytogenet (2014)

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

por Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Furusawa, Erika Arai, Zanardo, Evelin Aline, Costa, Larissa Sampaio de Athayde, Kulikowski, Leslie Domenici, Bertola, Debora Romeo, Kim, Chong Ae
Publicado en Biomed Res Int (2015)

Corrigendum to “Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA”

por Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Furusawa, Erika Arai, Zanardo, Evelin Aline, Costa, Larissa Sampaio de Athayde, Kulikowski, Leslie Domenici, Bertola, Debora Romeo, Kim, Chong Ae
Publicado en Biomed Res Int (2015)

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

por Romanelli Tavares, Vanessa L., Kague, Erika, Musso, Camila M., Alegria, Thiago G.P., Freitas, Renato S., Bertola, Debora R., Twigg, Stephen R.F., Passos-Bueno, Maria R.
Publicado en Mol Syndromol (2019)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

por Malvezzi, João VM, H Magalhaes, Ingrid, S Costa, Silvia, Otto, Paulo A, Rosenberg, Carla, Bertola, Debora R, LM Fernandes, Walter, Vianna-Morgante, Angela M, Krepischi, Ana CV
Publicado en Hum Genome Var (2018)

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

por 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
Publicado 2012

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

por Costa, Larissa Sampaio de Athayde, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., Kim, Chong A.
Publicado en Mol Cytogenet (2015)

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

por Ha, Kyungsoo, Anand, Priya, Lee, Jennifer A., Jones, Julie R., Kim, Chong Ae, Bertola, Debora Romeo, Labonne, Jonathan D. J., Layman, Lawrence C., Wenzel, Wolfgang, Kim, Hyung-Goo
Publicado en Genes (Basel) (2016)