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Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.
Published in:
Molecular Syndromology, 2022, v. 13, n. 4, p. 290, doi. 10.1159/000518872
By:
- de Souza, Vanessa Sodré;
- da Cunha, Gabriela Corassa Rodrigues;
- Versiani, Beatriz R.;
- de Oliveira, Claudiner Pereira;
- Rosa, Maria Teresa Alves Silva;
- de Oliveira, Silviene F.;
- Moretti, Patricia N.;
- Mazzeu, Juliana F.;
- Pic-Taylor, Aline
Publication type:
Article
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.
Published in:
Molecular Syndromology, 2019, v. 10, n. 4, p. 202, doi. 10.1159/000501008
By:
- Hanna, Marcela D.;
- Moretti, Patricia N.;
- P. de Oliveira, Claudiner;
- a. Rosa, Maria T.;
- R. Versiani, Beatriz;
- de Oliveira, Silviene F.;
- Pic-Taylor, aline;
- F. Mazzeu, Juliana
Publication type:
Article
A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability.
Published in:
Molecular Syndromology, 2019, v. 10, n. 4, p. 234, doi. 10.1159/000500397
By:
- Dornelles-Wawruk, Halinna;
- Soledad Heredia, Romina;
- de Paula-Junior, Milton R.;
- Cardoso, Maria Terezinha O.;
- Bonadio, Raphael S.;
- dos Reis, Bianca F.;
- Pic-Taylor, aline;
- de Oliveira, Silviene F.;
- Mazzeu, Juliana F.
Publication type:
Article
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Published in:
Molecular Syndromology, 2017, v. 8, n. 5, p. 227, doi. 10.1159/000477226
By:
- Monteiro, Rejane A. C.;
- de Freitas, Mariana L.;
- Vianna, Gabrielle S.;
- de Oliveira, Valdirene T.;
- Pietra, Rafaella X.;
- Ferreira, Luana C. A.;
- Rocha, Patrícia P. O.;
- da S. Gonçalves, Michele;
- da C. César, Giovana;
- de S. Lima, Joziele;
- Medeiros, Paula F. V.;
- Mazzeu, Juliana F.;
- Jehee, Fernanda S.
Publication type:
Article
Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63802
By:
- Mazzonetto, Patricia C.;
- Villela, Darine;
- Krepischi, Ana C. V.;
- Pierry, Paulo M.;
- Bonaldi, Adriano;
- Almeida, Luiz Gustavo D.;
- Paula, Marcelo G.;
- Bürger, Matheus Carvalho;
- de Oliveira, Ana Gabriela;
- Fonseca, Gustavo G. G.;
- Giugliani, Roberto;
- Riegel‐Giugliani, Mariluce;
- Bertola, Débora;
- Yamamoto, Guilherme Lopes;
- Passos‐Bueno, Maria Rita;
- Campos, Gabriele da Silva;
- Machado, Ana Claudia Dantas;
- Mazzeu, Juliana F.;
- Perrone, Eduardo;
- Zechi‐Ceide, Roseli M.
Publication type:
Article
ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 599, doi. 10.1002/ajmg.a.63052
By:
- Ramos, Anna Karolina Silva;
- Caldas‐Rosa, Erica Carine Campos;
- Ferreira, Bárbara Merfort;
- Versiani, Beatriz Ribeiro;
- Moretti, Patrícia Natalia;
- de Oliveira, Silviene Fabiana;
- Pic‐Taylor, Aline;
- Mazzeu, Juliana F.
Publication type:
Article
SHORT syndrome in an adult Brazilian patient.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1635, doi. 10.1002/ajmg.a.62660
By:
- Gonçalves, Ana Caroline G.;
- Moretti, Patricia N.;
- Cordoba, Mara S.;
- Oliveira, Renata S.;
- Lopes, Fernanda S. C.;
- Oliveira, Silviene F.;
- Pic‐Taylor, Aline;
- Castro, Luiz Claudio;
- Mazzeu, Juliana F.
Publication type:
Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
By:
- Zhang, Chaofan;
- Mazzeu, Juliana F.;
- Eisfeldt, Jesper;
- Grochowski, Christopher M.;
- White, Janson;
- Akdemir, Zeynep C.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Lindstrand, Anna;
- Lupski, James R.;
- Sutton, V. Reid;
- Carvalho, Claudia M. B.
Publication type:
Article
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3576, doi. 10.1002/ajmg.a.61854
By:
- Schwartz, David D.;
- Fein, Rachel H.;
- Carvalho, Claudia M. B.;
- Sutton, V. Reid;
- Mazzeu, Juliana F.;
- Axelrad, Marni E.
Publication type:
Article
Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2632, doi. 10.1002/ajmg.a.61843
By:
- Shayota, Brian J.;
- Zhang, Chaofan;
- Shypailo, Roman J.;
- Mazzeu, Juliana F.;
- Carvalho, Claudia M. B.;
- Sutton, V. Reid
Publication type:
Article
50 years of Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2005, doi. 10.1002/ajmg.a.61756
By:
- Mazzeu, Juliana F.;
- Brunner, Han G.
Publication type:
Article
Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1861, doi. 10.1002/ajmg.a.61620
By:
- Moretti, Patricia N.;
- Figueiredo, Ana Carolina V.;
- Saliba, Aline;
- Versiani, Beatriz R.;
- Oliveira, Silviene F.;
- Pic‐Taylor, Aline;
- Mazzeu, Juliana F.
Publication type:
Article
Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2170, doi. 10.1002/ajmg.a.61305
By:
- Richieri‐Costa, Antonio;
- Zechi‐Ceide, Roseli M.;
- Candido‐Souza, Rosana M.;
- Monteiro, Rejane A. C.;
- Tonello, Cristiano;
- Freitas, Mariana L.;
- Kokitsu‐Nakata, Nancy M.;
- Vendramini‐Pittoli, Siulan;
- Mazzeu, Juliana F.;
- Overes, Madelief;
- Ali‐Amin, Roza;
- Slegtenhorst, Marjon;
- Hoefsloot, Lies H.;
- Jehee, Fernanda S.
Publication type:
Article
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1152, doi. 10.1002/ajmg.a.38172
By:
- Pogue, Robert;
- Marques, Felipe A.;
- Kopacek, Cristiane;
- Rosa, Rosana C. M.;
- Dorfman, Luiza E.;
- Mazzeu, Juliana F.;
- Flores, José A. M.;
- Zen, Paulo R. G.;
- Rosa, Rafael F. M.
Publication type:
Article
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
Published in:
Developmental Dynamics, 2010, v. 239, n. 1, p. 327, doi. 10.1002/dvdy.22156
By:
- Person, Anthony D.;
- Beiraghi, Soraya;
- Sieben, Christine M.;
- Hermanson, Spencer;
- Neumann, Ann N.;
- Robu, Mara E.;
- Schleiffarth, J. Robert;
- Billington, Charles J.;
- van Bokhoven, Hans;
- Hoogeboom, Jeannette M.;
- Mazzeu, Juliana F.;
- Petryk, Anna;
- Schimmenti, Lisa A.;
- Brunner, Han G.;
- Ekker, Stephen C.;
- Lohr, Jamie L.
Publication type:
Article
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2479, doi. 10.1002/ajmg.a.34023
By:
- Bonaldi, Adriano;
- Mazzeu, Juliana F.;
- Costa, Silvia S.;
- Honjo, Rachel S.;
- Bertola, Débora R.;
- Albano, Lilian M.J.;
- Furquim, Isabel M.;
- Kim, Chong A.;
- Vianna-Morgante, Angela M.
Publication type:
Article
Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.
Published in:
Cytogenetic & Genome Research, 2016, v. 148, n. 2/3, p. 174, doi. 10.1159/000445853
By:
- Faria, Rosana S.;
- de Oliveira, Claudiner P.;
- da Costa, Marcella M.;
- da S. Rosa, Maria T.a.;
- Córdoba, Mara S.;
- Pic-Taylor, aline;
- Ferrari, Iris;
- de Oliveira, Silviene F.;
- Mazzeu, Juliana F.
Publication type:
Article
Partial 1q Duplications and Associated Phenotype.
Published in:
Molecular Syndromology, 2016, v. 6, n. 6, p. 297, doi. 10.1159/000443599
By:
- Morris, Marcos L.M.;
- Baroneza, José E.;
- Teixeira, Patricia;
- Medina, Cristina T.N.;
- Cordoba, Mara S.;
- Versiani, Beatriz R.;
- Roese, Liege L.;
- Freitas, Erika L.;
- Fonseca, Ana C.S.;
- dos Santos, Maria C.G.;
- Pic-Taylor, Aline;
- Rosenberg, Carla;
- Oliveira, Silviene F.;
- Ferrari, Iris;
- Mazzeu, Juliana F.
Publication type:
Article

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