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View article: Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service
Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service Open
Background Genomic medicine has allowed for an improvement in the diagnosis and molecular understanding of congenital defects. However, its implementation into routine clinical practice demands enormous challenges worldwide. This study des…
View article: A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project Open
Background/Objectives: Genodermatoses are genetic conditions with clinical symptoms manifesting in the skin and adjoining tissues, individually rare but comprising a large and heterogeneous group of disorders that represents 15% of genetic…
View article: Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)
Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC) Open
The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify several causative genes, often with reduced penetrance. Among these, the Rho GTPase activati…
View article: Novel variants in the SOX11 gene: clinical description of seven new patients
Novel variants in the SOX11 gene: clinical description of seven new patients Open
View article: Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil Open
Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, di…
View article: Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate
Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate Open
The pathophysiological basis of non-syndromic cleft lip and/or palate (NsCL/P) is still largely unclear. However, exome sequencing (ES) has allowed to associate several genes with NsCL/P, often with reduced penetrance. Among these genes, t…
View article: Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil Open
View article: 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity Open
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the del…
View article: Syndromic Retinitis Pigmentosa: A 15-Patient Study
Syndromic Retinitis Pigmentosa: A 15-Patient Study Open
Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syn…
View article: Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome Open
22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22…
View article: Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome Open
The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinica…
View article: Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism
Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism Open
Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH, OMIM # 615866). In this article, we report seven …
View article: Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years
Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years Open
View article: Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries Open
We recently demonstrated that low-pass whole-genome sequencing (LP-WGS) with 1x coverage is equally sensitive and specific as chromosome microarray analysis (CMA) for detecting copy number variants (CNVs). Although in Europe and USA the fi…
View article: Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil
Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil Open
Background The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emp…
View article: Exploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil
Exploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil Open
Background Health literacy enables individuals to access, comprehend, and utilize essential health information and services to make informed decisions about their well-being. In Brazil, disparities in access to education persist, raising c…
View article: Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability Open
Insertions are rare balanced chromosomal rearrangements with an increased risk of imbalances for the offspring. Moreover, balanced rearrangements in individuals with abnormal phenotypes may be associated to the phenotype by different mecha…
View article: SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review
SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review Open
SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the…
View article: Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum
Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum Open
Orofacial clefts (OC) are the most common birth defects in humans and approximately 30% of them form the group of syndromic orofacial clefts (SOCs). Microphthalmia/anophthalmia/coloboma spectrum (MAC) can be associated with OC, however the…
View article: How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?
How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? Open
Characterization of specific birth defects is essential for conducting scientific investigations, care and therapeutic strategies. This article describes demographic, clinical and genetic aspects, risk factors and access to treatment of Br…
View article: A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication Open
A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial…
View article: Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review Open
The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenoty…
View article: Demographic history differences between Hispanics and Brazilians imprint haplotype features
Demographic history differences between Hispanics and Brazilians imprint haplotype features Open
Admixture is known to greatly impact the genetic landscape of a population and, while genetic variation underlying human phenotypes has been shown to differ among populations, studies on admixed subjects are still scarce. Latin American po…
View article: An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis Open
View article: Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis
Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis Open
Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/…
View article: Demographic-history-differences-between-Hispanics-and-Brazilians-imprint-haplotype-features.zip
Demographic-history-differences-between-Hispanics-and-Brazilians-imprint-haplotype-features.zip Open
Complete dataset in Cruz & Ananina et al. 2022 (Demographic history differences between Hispanics and Brazilians imprint haplotype features. G3) The dataset represents the combined individuals in binary pedigree (bed/bim/fam) format, as w…
View article: Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis
Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis Open
Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/…
View article: Supplemental material for Cruz and Ananina et al., 2022
Supplemental material for Cruz and Ananina et al., 2022 Open
Complete dataset in Cruz & Ananina et al. 2022 (Demographic history differences between Hispanics and Brazilians imprint haplotype features. G3) The dataset represents the combined individuals in binary pedigree (bed/bim/fam) format, as w…
View article: An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.
An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis. Open
Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a rare disease that has as an important characteristic the clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updati…
View article: Evidence of cytogenetic and histological damage in specimens of Astyanax lacustris (Pisces, Characidae) exposed to the hydrogen cyanide-based herbicide Dormex®
Evidence of cytogenetic and histological damage in specimens of Astyanax lacustris (Pisces, Characidae) exposed to the hydrogen cyanide-based herbicide Dormex® Open
The herbicide Dormex®, a solution of hydrogen cyanamide, is a growth regulator capable of breaking the dormancy of fruit plants, and is commonly applied in agriculture. However, the biological effects of this product on non-target organism…