Denise Pontes Cavalcanti (Denise P Cavalcanti)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 7

Top Venues

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

European journal of medical research

Human genetics

Universidade Estadual de Campinas

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidade Estadual de Campinas

Brazil

Associate Professor / MD, PhD :: Medical Genetics

Publications

Karina da Costa Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise Pontes Cavalcanti, Peter Kannu
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence. Human genetics (2023)
Maria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira, Benilton S Carvalho, Denise Pontes Cavalcanti
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences. American journal of medical genetics. Part A (2023)
Karina C Silveira, Thatiane Y Kanazawa, Cynthia Silveira, Maria D J Lacarrubba-Flores, Benilton S Carvalho, Denise Pontes Cavalcanti
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (2021)
Denise Pontes Cavalcanti, Virginia Fano, Cecilia Mellado, Maria Dora J Lacarrubba-Flores, Cynthia Silveira, Karina C Silveira, Mariana Del Pino, Angelica Moresco, Silvia Caino, Rosario Ramos Mejía, Cristián J García, Guillermo Lay-Son, Carlos R Ferreira
Skeletal dysplasias in Latin America. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
Cristina T N Medina, Renata Sandoval, Gabriela Oliveira, Karina da Costa Silveira, Denise Pontes Cavalcanti, Robert Pogue
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. American journal of medical genetics. Part A 182 (4) (2020)
Maria Dora Jazmin Lacarrubba-Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro, Carolina Araujo Moreno, Ana Carolina Esposito, Fernando Augusto Lima Marson, Thereza Loureiro, Denise Pontes Cavalcanti
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair. American journal of medical genetics. Part A 176 (9) (2018)
Thaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, Carolina Araujo Moreno, Paula Frassinetti Vasconcelos de Medeiros, Renata Moldenhauer Minillo, Débora Gusmão Melo, Chong Ae Kim, Maria Juliana Rodovalho Doriqui, Têmis Maria Felix, Rodrigo Ambrosio Fock, Denise Pontes Cavalcanti
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. European journal of medical research 21 (1) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Denise Pontes Cavalcanti (Denise P Cavalcanti)