Juliana Forte Mazzeu (J F Mazzeu, Juliana F Mazzeu)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 12

Top Venues

American journal of medical genetics. Part A

Human mutation

Clinical and experimental dermatology

Oral diseases

Universidade de Brasília

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

Affiliation History

Universidade de Brasília Jan 20 2015

Brazil

Professor Adjunto :: Faculdade de Medicina

Universidade de Brasília

Brazil

Professor Visitante :: Instituto de Ciências Biológicas

Publications

Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi, Paulo M Pierry, Adriano Bonaldi, Luiz Gustavo D Almeida, Marcelo G Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G G Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos-Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana Forte Mazzeu, Eduardo Perrone, Roseli M Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Társis Antonio Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina-Neto, Cristovam Scapulatempo-Neto, Fernanda Milanezi, Carla Rosenberg
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American journal of medical genetics. Part A (2024)
Anna Karolina Silva Ramos, Erica Carine Campos Caldas-Rosa, Bárbara Merfort Ferreira, Beatriz Ribeiro Versiani, Patrícia Natalia Moretti, Silviene Fabiana de Oliveira, Aline Pic-Taylor, Juliana Forte Mazzeu
ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization. American journal of medical genetics. Part A (2022)
Ariadne R Lima, Barbara M Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J White, Moez Dawood, Tulio C Lins, Marcela A Chiabai, Ellen van Beusekom, Mara S Cordoba, Erica C C Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri-Costa, Décio Brunoni, Talyta M Canó, Alexander A L Jorge, Chong A Kim, Rachel Honjo, Débora R Bertola, Raissa M Dandalo-Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz-Gulec, Evren Gumus, Gülay C Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban-Akdemir, Tadahiro Mitani, Shalini N Jhangiani, Donna M Muzny, Neysa A P Regattieri, Robert Pogue, Rinaldo W Pereira, Paulo A Otto, Richard A Gibbs, Bassam R Ali, Hans van Bokhoven, Han G Brunner, V Reid Sutton, James R. Lupski, Angela M Vianna-Morgante, Claudia M B Carvalho, Juliana Forte Mazzeu
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human mutation 43 (7) (2022)
Ana Caroline G Gonçalves, Patricia N Moretti, Mara S Cordoba, Renata S Oliveira, Fernanda S C Lopes, Silviene F Oliveira, Aline Pic-Taylor, Luiz Claudio Castro, Juliana Forte Mazzeu
SHORT syndrome in an adult Brazilian patient. American journal of medical genetics. Part A 188 (5) (2022)
S V Braz, R A Benicio, G S S S Tonelli, S N Báo, P N Moretti, A Pic-Taylor, S F Oliveira, A C Acevedo, I M C Costa, Juliana Forte Mazzeu
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant. Clinical and experimental dermatology 47 (4) (2021)
Brian J Shayota, Chaofan Zhang, Roman J Shypailo, Juliana Forte Mazzeu, Cláudia M B Carvalho, Vernon Reid Sutton
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. American journal of medical genetics. Part A 182 (11) (2020)
Chaofan Zhang, Juliana Forte Mazzeu, Jesper Eisfeldt, Christopher M Grochowski, Janson White, Zeynep C Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Anna Lindstrand, James R. Lupski, V Reid Sutton, Cláudia M B Carvalho
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Patricia N Moretti, Ana Carolina V Figueiredo, Aline Saliba, Beatriz R Versiani, Silviene F Oliveira, Aline Pic-Taylor, Juliana Forte Mazzeu
Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4. American journal of medical genetics. Part A 182 (8) (2020)
Cláudio Rodrigues Rezende Costa, Shélida Vasconcelos Braz, Isabela Porto de Toledo, Hercilio Martelli-Júnior, Juliana Forte Mazzeu, Eliete Neves da Silva Guerra, Ricardo Della Coletta, Ana Carolina Acevedo
Syndromes with gingival fibromatosis: A systematic review. Oral diseases 27 (4) (2020)
David D Schwartz, Rachel H Fein, Cláudia M B Carvalho, Vernon Reid Sutton, Juliana Forte Mazzeu, Marni E Axelrad
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Juliana Forte Mazzeu, Han G Brunner
50 years of Robinow syndrome. American journal of medical genetics. Part A 182 (9) (2020)
Antonio Richieri-Costa, Roseli Maria Zechi-Ceide, Rosana M Candido-Souza, Rejane A C Monteiro, Cristiano Tonello, Mariana L de Freitas, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Juliana Forte Mazzeu, Madelief Overes, Roza Ali-Amin, Marjon van Slegtenhorst, Lies H Hoefsloot, Fernanda S Jehee
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome. American journal of medical genetics. Part A 179 (11) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Juliana Forte Mazzeu (J F Mazzeu, Juliana F Mazzeu)