Lucia R. Martelli

3900 Bandeirantes Avenue
Ribeirao Preto, SP 14049900, Brazil

Last Updated: 09/26/2026

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Found 11 publications

Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis.

Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis.

Journal: Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia

Published: September 23, 2023

Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion.

Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion.

Journal: Cytogenetic and genome research

Published: May 25, 2023

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Journal: HGG advances

Published: July 13, 2021

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Journal: Andrology

Published: July 09, 2019

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Journal: Molecular syndromology

Published: June 25, 2019

Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay.

Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay.

Journal: Genetics and molecular biology

Published: September 27, 2018

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Journal: Molecular syndromology

Published: October 04, 2016

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Journal: Molecular cytogenetics

Published: July 07, 2016

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Journal: Molecular cytogenetics

Published: February 19, 2016

Smoking-induced chromosomal segregation anomalies identified by FISH analysis of sperm.

Smoking-induced chromosomal segregation anomalies identified by FISH analysis of sperm.

Journal: Molecular cytogenetics

Published: May 19, 2014

Messenger RNAs in metaphase II oocytes correlate with successful embryo development to the blastocyst stage.

Messenger RNAs in metaphase II oocytes correlate with successful embryo development to the blastocyst stage.

Journal: Zygote (Cambridge, England)

Published: October 11, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026