Gabriela Ferraz Leal
Instituto de Medicina Integral Professor Fernando Figueira(BR)
Publications by Year
Research Areas
Chromosomal and Genetic Variations, Genomic variations and chromosomal abnormalities, Microtubule and mitosis dynamics, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Cleft Lip and Palate Research
Most-Cited Works
- → Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome(2011)257 cited
- → Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders(2013)135 cited
- → A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2(2003)79 cited
- → Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature(2013)67 cited
- → Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case(2013)51 cited
- → The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene(2019)49 cited
- → Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities(2014)28 cited
- → Implementing the Brazilian Database on Orofacial Clefts(2013)24 cited
- → Effect of chromosome constitution variations on the expression of Turner phenotype(2013)23 cited
- → Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2(2017)23 cited