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Juliana f Mazzeu
Juliana f Mazzeu
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Cited by
Year
WNT5A mutations in patients with autosomal dominant Robinow syndrome
AD Person, S Beiraghi, CM Sieben, S Hermanson, AN Neumann, ...
Developmental dynamics: an official publication of the American Association …, 2010
2692010
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ...
Cytogenetic and genome research 115 (3-4), 254-261, 2006
1412006
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
J White, JF Mazzeu, A Hoischen, SN Jhangiani, T Gambin, MC Alcino, ...
The American Journal of Human Genetics 96 (4), 612-622, 2015
1372015
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
JF Mazzeu, E Pardono, AM Vianna‐Morgante, A Richieri‐Costa, ...
American journal of medical genetics Part A 143 (4), 320-325, 2007
1192007
WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome
JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ...
The American Journal of Human Genetics 102 (1), 27-43, 2018
1112018
DVL3 alleles resulting in a− 1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome
JJ White, JF Mazzeu, A Hoischen, Y Bayram, M Withers, A Gezdirici, ...
The American Journal of Human Genetics 98 (3), 553-561, 2016
1072016
Integrated assessment of toxic effects of maghemite (γ-Fe2O3) nanoparticles in zebrafish
RAR Villacis, S José Filho, B Pina, RB Azevedo, A Pic-Taylor, JF Mazzeu, ...
Aquatic toxicology 191, 219-225, 2017
592017
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
A Bonaldi, JF Mazzeu, SS Costa, RS Honjo, DR Bertola, LMJ Albano, ...
American journal of medical genetics Part A 155 (10), 2479-2483, 2011
542011
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ...
Nature 617 (7962), 764-768, 2023
532023
Genetic and genomics in congenital heart disease: a clinical review
A Saliba, ACV Figueiredo, JE Baroneza, JY Afiune, A Pic-Taylor, ...
Jornal de Pediatria 96, 279-288, 2020
512020
Novel genes and sex differences in COVID-19 severity
R Cruz, S Diz-de Almeida, M López de Heredia, I Quintela, FC Ceballos, ...
Human Molecular Genetics 31 (22), 3789-3806, 2022
482022
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis …
FS Jehee, ACV Krepischi-Santos, KM Rocha, DP Cavalcanti, CA Kim, ...
Journal of medical genetics 45 (7), 447-450, 2008
422008
Autosomal dominant Robinow syndrome
M Roifman, H Brunner, J Lohr, J Mazzeu, D Chitayat
272019
Major contribution of genomic copy number variation in syndromic congenital heart disease: the use of MLPA as the first genetic test
RAC Monteiro, ML de Freitas, GS Vianna, VT de Oliveira, RX Pietra, ...
Molecular Syndromology 8 (5), 227-235, 2017
272017
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ...
Human Genetics and Genomics Advances 3 (1), 2022
242022
Non-overlapping 22q11. 2 microdeletions in patients with oculo-auriculo-vertebral spectrum
PAC Dos Santos, SF de Oliveira, EL Freitas, HPN Safatle, C Rosenberg, ...
American journal of medical genetics. Part A 164 (2), 551-553, 2014
222014
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
C Zhang, JF Mazzeu, J Eisfeldt, CM Grochowski, J White, ZC Akdemir, ...
American Journal of Medical Genetics Part A 185 (12), 3593-3600, 2021
212021
Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report
PM Yamaguti, PAC dos Santos, BS Leal, VBBM Santana, JF Mazzeu, ...
BMC nephrology 16, 1-6, 2015
212015
Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations
AC Vaqueiro, CP de Oliveira, MS Cordoba, BR Versiani, CX de Carvalho, ...
European Journal of Medical Genetics 61 (1), 29-33, 2018
202018
Baylor-Hopkins Center for Mendelian Genomics: DVL3 alleles resulting in a-1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome
JJ White, JF Mazzeu, A Hoischen, Y Bayram, M Withers, A Gezdirici, ...
Am. J. Hum. Genet 98, 553-561, 2016
192016
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