Denise Pontes Cavalcanti

7PUBLICATIONS
12CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)OrthopaedicsDevelopmental genetics (incl. sex determination)Medical anthropology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Oct 17, 2023
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences.

Maria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira

|Sep 27, 2023
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.

Karina C Silveira, Inara Chacon Fonseca, Connor Oborn

|Sep 16, 2021
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.

Karina C Silveira, Thatiane Y Kanazawa, Cynthia Silveira

|Nov 21, 2020
Skeletal dysplasias in Latin America.

Denise P Cavalcanti, Virginia Fano, Cecilia Mellado

|Jan 07, 2020
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.

Cristina T N Medina, Renata Sandoval, Gabriela Oliveira

|Aug 03, 2018
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.

Maria Dora Jazmin Lacarrubba-Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro

Pageof 2

Frequent Collaborators

2 joint publications

Karina da Costa Silveira

2 joint publications

Maria Dora Jazmin Lacarrubba-Flores

1 joint publications

Robert Pogue

1 joint publications

Cecilia Mellado