Rothmund-Thomson syndrome, a disorder far from solved

por Martins, Davi Jardim, Di Lazzaro Filho, Ricardo, Bertola, Debora Romeo, Hoch, Nícolas Carlos
Publicado 2023

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 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

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

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

por Bonamichi, Beatriz D. S. F., Santiago, Stella L. M., Bertola, Débora R., Kim, Chong A., Alonso, Nivaldo, Mendonca, Berenice B., Bachega, Tania A. S. S., Gomes, Larissa G.
Publicado 2016

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 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 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 2015

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 2018

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism

por Meira, Joanna Goes Castro, Sarno, Manoel Alfredo Curvelo, Faria, Ágatha Cristhina Oliveira, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Scheibler, Gabriela Gayer, Tavares, Dione Fernandes, Acosta, Angelina Xavier
Publicado 2018

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

por Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.
Publicado 2021

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 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 2016

Tegumentary manifestations of Noonan and Noonan-related syndromes

por Quaio, Caio Robledo D'Angioli Costa, de Almeida, Tatiana Ferreira, Brasil, Amanda Salem, Pereira, Alexandre C., Jorge, Alexander A. L., Malaquias, Alexsandra C., Kim, Chong Ae, Bertola, Débora Romeo
Publicado 2013

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

por Carneiro, Thaise NR, Krepischi, Ana CV, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana AM, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla
Publicado 2018

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

por Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Scliar, Marília de Oliveira, Fernandes, Walter Luis Magalhães, Otto, Paulo Alberto, Bertola, Débora Romeo, Rosenberg, Carla, Vianna-Morgante, Angela Maria, Krepischi, Ana Cristina Victorino
Publicado 2020

Targeted massively parallel sequencing for congenital generalized lipodystrophy

por Costa-Riquetto, Aline D., Santana, Lucas S., Caetano, Lílian A., Lerário, Antônio M., Correia-Deur, Joya E. M., Bertola, Débora R., Kim, Chong A., Nery, Márcia, Jorge, Alexander A. L., Teles, Milena G.
Publicado 2020