A5040691205- Cleft Lip and Palate Research
- Connective tissue disorders research
- Craniofacial Disorders and Treatments
- Genomics and Rare Diseases
- Bone fractures and treatments
- Genetics and Neurodevelopmental Disorders
- dental development and anomalies
- Genomic variations and chromosomal abnormalities
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- Bone and Dental Protein Studies
- Health Systems, Economic Evaluations, Quality of Life
- Congenital heart defects research
- Hearing, Cochlea, Tinnitus, Genetics
- Hedgehog Signaling Pathway Studies
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Congenital Ear and Nasal Anomalies
- Neurogenetic and Muscular Disorders Research
- Health, Nursing, Elderly Care
- Maternal and Neonatal Healthcare
- Congenital Heart Disease Studies
- Esophageal and GI Pathology
- Ear Surgery and Otitis Media
- Tissue Engineering and Regenerative Medicine
Hospital de Clínicas de Porto Alegre
2016-2025
Heidelberg University
2025
University Hospital Heidelberg
2025
Universidade Federal do Rio Grande do Sul
2013-2024
Hospital de Clínicas
1997-2024
Universidade Federal do Rio Grande
2020
National Institute on Population Medical Genetics
2015-2017
Services Hospital
2015
Office of Adolescent Health
2015
Felix Scholarship
2014
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis this by sequencing most coding exons in affected individuals.Through search available case studies communication with collaborators, we identified families that included at least one individual three five main features DOORS syndrome: deafness, intellectual disability, seizures. Participants were recruited...
Nonsyndromic or isolated cleft lip with without palate (CL/P) occurs in wide geographic distribution an average birth prevalence of 1/700. We used direct sequencing as approach to study candidate genes for CL/P. report here the results on 20 clefts 184 cases CL/P selected emphasis severity and positive family history. Genes were based expression patterns, animal models, and/or role known human clefting syndromes. For seven identified coding mutations that are potentially etiologic, we...
<i>Objectives:</i> Non-syndromic orofacial clefts, i.e. cleft lip (CL) and palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions genes for CL with or without CP (CL/P). <i>Methods:</i> We performed linkage analyses a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant results were followed by association 1,476 SNPs candidate regions, utilizing weighted false discovery rate (wFDR)...
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
It is currently unknown how often and in which ways a genetic diagnosis given to patient with epilepsy associated clinical management outcomes. To evaluate diagnoses patients are This was retrospective cross-sectional study of referred for multigene panel testing between March 18, 2016, August 3, 2020, outcomes reported May November 2020. The setting included commercial laboratory multicenter practices. Patients epilepsy, regardless sociodemographic features, who received pathogenic/likely...
Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry Health to reduce morbidity and mortality improve quality life people rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated Public System, 18 specialised centres so far at university hospitals (UH) in capitals Southern, Southeastern Northeastern regions. However, whether available human technological resources...
DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP).However, an etiologic variant IRF6 has been found only 70% VWS families.To test whether variants regulatory elements cause VWS, we sequenced three conserved near 70 families that lack mutation within exons.A rare (350dupA) was a enhancer element (MCS9.7) Brazilian family.The 350dupA abrogated binding p63 E47 transcription factors to...
Intellectual disability affects approximately 1–3% of the population and can be caused by genetic environmental factors. Although many studies have investigated etiology intellectual in different populations, few been performed middle‐income countries. The present study estimated prevalence causes related to a cohort children from city south Brazil who were followed birth. Children showed poor performance development intelligence tests at ages 2 4 included. Out 4,231 liveborns enrolled...
Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate were evaluated via in vitro, silico, or segregation analyses. Three probably pathogenic (c.760G>A [p.Asp254Asn], c.1023T>G [p.Tyr341*], and c.2351G>A [p.Arg784His]) segregated according autosomal dominant inheritance four nonsyndromic lip with without palate (NSCL/P)...
to characterize mastication and electrical activation of the masseter anterior temporalis muscles in children adolescents with osteogenesis imperfecta (OI), relate results guided occlusion occlusal interference. This observational, analytical cross-sectional study included 22 subjects divided into mild OI (MOI) (type 1) (n=15) moderate-to-severe (MSOI) (types 3, 4, 5) (n=7) groups. The Orofacial Myofunctional Evaluation Scores (OMES) form was used evaluate clinical aspects mastication....
Abstract Background Nucleoside diphosphate kinase B (NDPKB) deficiency in endothelial cells (ECs) promotes the activation of hexosamine biosynthesis pathway (HBP), leading to vascular damage retina. The aim this study was investigate consequences NDPKB mouse heart. Methods deficient mice were used study. Echocardiography employed assess cardiac function vivo. Characterization contractility hiPSC-derived cardiomyocytes (hiPSC-CMs) measured with IonOptix system. Immunoblotting and...
Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic environmental factors. Abnormalities in homocysteine metabolism may play a role its etiology polymorphisms genes involved this pathway. Because of the involvement MTHFR, MTR MTRR with folate evidence that maternal use folic acid early pregnancy reduces risk for CL/P, we evaluated influence their on CL/P through case-control study. The analyses 114 non-syndromic phenotypically white children clefts (case) 110...
Osteogenesis imperfecta (OI) is a group of genetic disorders collagen biosynthesis, characterized by low bone density leading to fractures. Most patients exhibit functional impairment and require the aid caregiver. The aim this study assess quality life (QoL) caregivers with OI. In cross-sectional study, convenience sampling strategy was used enroll adult children adolescents OI who attended referral center in southern Brazil. WHOQOL-BREF instrument QoL. Twenty-four 27 (10 type I, 4 III, 13...
In Brief Purpose: To analyze clinical and functional features of children adolescents with osteogenesis imperfecta (OI). Methods: A cross-sectional study 62 participants examined clinical, body structure function activity features. Results: total 31 had OI type I, 9 III, 22 IV. Mild (type I) moderate/severe (types III IV) differed significantly in occurrence fractures, presence bone deformities, the use intramedullary rods, mineral density, bisphosphonate therapy. Age gait acquisition showed...
Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort middle-income countries.To estimate prevalence, factors related to ID among children prospectively followed since birth a Southern Brazilian city (Pelotas).In 2004, maternity hospitals were visited daily births identified. Live-born infants (n = 4,231) whose family lived urban area have been for...