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

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

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

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

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

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

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

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

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

por Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora R, Cunningham, Michael L, Gustafson, Jonas A, Johnson, David, Morton, Jenny E V, Passos-Bueno, Maria Rita, Timberlake, Andrew T, Lifton, Richard P, Wall, Steven A, Twigg, Stephen R F, Maire, Pascal, Wilkie, Andrew O M
Publicado 2022

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

por Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla
Publicado 2022

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

por Aguiar, Talita Ferreira Marques, Rivas, Maria Prates, Costa, Silvia, Maschietto, Mariana, Rodrigues, Tatiane, Sobral de Barros, Juliana, Barbosa, Anne Caroline, Valieris, Renan, Fernandes, Gustavo R., Bertola, Debora R., Cypriano, Monica, Caminada de Toledo, Silvia Regina, Major, Angela, Tojal, Israel, Apezzato, Maria Lúcia de Pinho, Carraro, Dirce Maria, Rosenberg, Carla, Lima da Costa, Cecilia Maria, Cunha, Isabela W., Sarabia, Stephen Frederick, Terrada, Dolores-López, Krepischi, Ana Cristina Victorino
Publicado 2020

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

por Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.
Publicado 2022

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

por Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Publicado 2018