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Lista de obras de Lavinia Schuler-Faccini

A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case-control study.

artículo científico publicado en 2014

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

artículo científico publicado en 2019

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

artículo científico publicado en 2016

A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

artículo científico publicado en 2016

A genome-wide association study identifies multiple loci for variation in human ear morphology

artículo científico publicado en 2015

A large family with CYLD cutaneous syndrome: medical genetics at the community level

scientific article published on 03 December 2019

ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder

scientific article published on 16 January 2019

Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

artículo científico publicado en 2014

Albumin permeability in isolated glomeruli in incipient experimental diabetes mellitus

artículo científico publicado en 2000

An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast

scientific article published on 16 March 2020

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants

artículo científico publicado en 2019

Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil

artículo científico publicado en 2017

Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder

artículo científico publicado en 2019

Angiogenesis and oxidative stress-related gene variants in recurrent pregnancy loss

article

Angiogenesis-related genes and thalidomide teratogenesis in humans: an approach on genetic variation and review of past in vitro studies

artículo científico publicado en 2017

Apheresis in primary focal segmental glomerulosclerosis of native and transplanted kidneys: a therapeutic protocol.

artículo científico publicado en 2000

Apolipoproteins prevent glomerular albumin permeability induced in vitro by serum from patients with focal segmental glomerulosclerosis

artículo científico publicado en 2001

Assembling systems biology, embryo development and teratogenesis: What do we know so far and where to go next?

artículo científico publicado en 2019

Assessment of fetal risk associated with exposure to cancer chemotherapy during pregnancy: a multicenter study

artículo científico publicado en 2001

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

artículo científico publicado en 2016

Association of the HLA-G 14-bp insertion/deletion polymorphism with juvenile idiopathic arthritis and rheumatoid arthritis

artículo científico publicado en 2008

Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma

artículo científico publicado en 2002

Behavior of blood lactate after oral glucose load in normal subjects. Effect of phenethylbiguanide administration

artículo científico

Biochemical composition of the saliva and dental biofilm of children with Down syndrome

artículo científico publicado en 2015

Blood acetoacetate, 3-hydroxybutyrate, lactate, pyruvate and alpha-ketoglutarate behavior in chronic uremia during a single hemodialysis

artículo científico

CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation

artículo científico publicado en 2020

Cancer Genetic Counseling in Public Health Care Hospitals: The Experience of Three Brazilian Services

article

Causes of death in children with congenital Zika syndrome in Brazil, 2015 to 2018: A nationwide record linkage study

artículo científico publicado en 2023

Central alpha-adrenergic agonist antihypertensive drugs and renal failure

artículo científico publicado el 31 de mayo de 1984

Changes in the lactate and pyruvate levels of the blood and of the lactate-pyruvate ratio in patients with diabetes treated with phenethylbiguanide

artículo científico

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

article

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

artículo científico publicado en 2014

Clusters of genetic diseases in Brazil

article

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta

article

Community diagnosis of maternal exposure to risk factors for congenital defects

artículo científico publicado en 2003

Congenital Zika virus syndrome in Brazil: a case series of the first 1501 livebirths with complete investigation.

artículo científico publicado en 2016

Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10

scientific article published on 04 December 2020

Consistency of self-reported first-degree family history of cancer in a population-based study

scientific article published on 20 January 2009

Contrast agent nephrotoxicity: comparison of ionic and nonionic contrast agents

artículo científico publicado en 1987

Contrast media nephrotoxicity: urinary protein and enzyme pattern in patients with or without saline infusion during digital subtracting angiography.

artículo científico publicado en 1993

Correction: Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations.

artículo científico publicado en 2017

Defeitos congênitos em uma região de mineração de carvão

scientific article published on 01 April 2001

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

article

Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

artículo científico publicado en 2009

Dipyrone use during pregnancy and adverse perinatal events

artículo científico publicado en 2008

Dose effect of nitrendipine on urinary enzymes and microproteins following non-ionic radiocontrast administration

artículo científico publicado en 1996

Effects of a dimeric vs a monomeric nonionic contrast medium on renal function in patients with mild to moderate renal insufficiency: a double-blind, randomized clinical trial

artículo científico publicado en 1998

Enzymuria (alpha-glucosidase, muramidase, ribonuclease) and proteinuria (total proteins, beta 2-microglobulin, electrophoretic pattern) after cephalosporin and aminoglycoside administration

artículo científico publicado en 1984

Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil

artículo científico publicado en 2011

Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series

artículo científico publicado en 2020

Erythema Nodosum Leprosum: Update and challenges on the treatment of a neglected condition.

artículo científico publicado en 2018

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

artículo científico publicado en 2015

Evaluation of C677T and A1298C polymorphisms of theMTHFRgene as maternal risk factors for Down syndrome and congenital heart defects

artículo científico publicado en 2009

Evaluation of dietary compliance in patients with chronic renal failure on conservative treatment: comparison of methods to assess dietary intake

scientific article published on 01 January 1990

Evaluation of the teratogenic risks in gestations exposed to misoprostol

artículo científico publicado en 2010

Evidence for Association Between OXTR Gene and ASD Clinical Phenotypes

article

Exercise-Induced Proteinuria ⬇️

artículo científico publicado el 1 de enero de 1981

Fetal Alcohol Spectrum Disorders: Health Needs Assessment in Brazil

artículo científico publicado en 2020

Fetal Effects of Metoclopramide Therapy for Nausea and Vomiting of Pregnancy

Fetal safety of loratadine use in the first trimester of pregnancy: a multicenter study

artículo científico publicado en 2003

From abortion-inducing medications to Zika Virus Syndrome: 27 years experience of the First Teratogen Information Service in Latin America

artículo científico publicado en 2019

From rumors to genetic isolates

scientific article published on March 2014

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening.

artículo científico publicado en 2012

Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil

article

Genetic analysis of human and swine influenza A viruses isolated in Northern Italy during 2010-2015.

artículo científico publicado en 2017

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

artículo científico publicado en 2019

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

artículo científico publicado en 2014

Genetic susceptibility to thalidomide embryopathy in humans: Study of candidate development genes

artículo científico publicado en 2017

Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town

artículo científico publicado en 2019

Genetics and human rights. Two histories: Restoring genetic identity after forced disappearance and identity suppression in Argentina and after compulsory isolation for leprosy in Brazil

artículo científico publicado en 2014

Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

article

Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans

artículo científico publicado en 2016

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: a comprehensive review

artículo científico publicado en 2020

Genotypic diversity and acidogenicity of Streptococcus mutans in Down syndrome children

artículo científico publicado en 2019

Glycogen storage disease type I: clinical and laboratory profile

artículo científico publicado en 2014

HLA diversity in Brazil

artículo científico publicado en 2019

Haplotype analysis of DQ2.5 and DQ8 by simple nucleotide polymorphism technique (TAG-SNP) in type 1 diabetes and/or celiac disease patients.

artículo científico publicado en 2015

Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil

artículo científico publicado en 2013

High twinning rate in Candido Godoi: a new role for p53 in human fertility

artículo científico publicado en 2012

Impact on pregnancies in south Brazil from the influenza A (H1N1) pandemic: cohort study.

artículo científico publicado en 2014

Implications of the admixture process in skin color molecular assessment

artículo científico publicado en 2014

Inclusion of medical genetics in primary health care: report of a pilot project in Brazil

artículo científico publicado en 2012

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

artículo científico publicado en 2006

Influence of the 5-HTTLPR polymorphism and environmental risk factors in a Brazilian sample of patients with autism spectrum disorders

artículo científico publicado en 2009

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Interaction between TP63 and MDM2 genes and the risk of recurrent pregnancy loss

artículo científico publicado en 2014

Intrafamilial clinical variability in four families with incontinentia pigmenti

scientific article published on 27 August 2018

Is intrauterine exposure to acetaminophen associated with emotional and hyperactivity problems during childhood? Findings from the 2004 Pelotas birth cohort

article published in 2018

Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin births in a Brazilian population (Cândido Godói, Rio Grande do Sul).

artículo científico publicado en 2018

Lack of association between thrombophilic gene variants and recurrent pregnancy loss

article

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

scientific article published in Nature Communications

Leprosy in Southern Brazil: a twenty-year epidemiological profile

artículo científico publicado en 2017

MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis

artículo científico publicado en 2013

MTHFR C677T is not a risk factor for autism spectrum disorders in South Brazil

artículo científico publicado en 2010

Maple syrup urine disease in Brazil: a panorama of the last two decades

artículo científico publicado en 2014

Maternal SNPs in the p53 pathway: risk factors for trisomy 21?

artículo científico publicado en 2013

Maternal drinking behavior and Fetal Alcohol Spectrum Disorders in adolescents with criminal behavior in southern Brazil.

artículo científico publicado en 2012

Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil.

artículo científico publicado en 2010

Mechanisms of malnutrition in uremia

scientific article published on 01 November 1997

Metoclopramide for nausea and vomiting of pregnancy: a prospective multicenter international study

artículo científico publicado en 2002

Microcephaly in Brazil: how to interpret reported numbers?

artículo científico publicado en 2016

Microcephaly infant mortality in Brazil before zika outbreak

scientific article published on 03 December 2019

Modulation of incipient glomerular lesions in experimental diabetic nephropathy by hypotensive and subhypotensive dosages of an ACE inhibitor

artículo científico publicado en 2001

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

artículo científico publicado en 2017

Muscle Cathepsin D Activity, and RNA, DNA and Protein Content in Maintenance Hemodialysis Patients ⬇️

artículo científico publicado el 1 de enero de 1984

Muscle biopsy studies in chronically uremic patients: evidence for malnutrition

scientific article published on 01 December 1983

Muscle glucose content and hexokinase activity in patients with chronic uremia

artículo científico publicado el 1 de febrero de 1975

Music genetics research: Association with musicality of a polymorphism right now in the AVPR1A gene

artículo científico publicado en 2017

NR3C1, ABCB1, TNF and CYP2C19 polymorphisms association with the response to the treatment of erythema nodosum leprosum

artículo científico publicado en 2019

Neurodevelopment of Nonmicrocephalic Children, After 18 Months of Life, Exposed Prenatally to Zika Virus

scientific article published on 26 December 2019

New Findings in eNOS gene and Thalidomide Embryopathy Suggest pre-transcriptional effect variants as susceptibility factors

artículo científico publicado en 2016

New cases of thalidomide embryopathy in Brazil

article

Nifedipine reduces postexercise proteinuria in young volunteers

artículo científico publicado en 1995

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

scientific article published on 01 February 2020

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia

article

On the constitution of body fluids in hyperazotemic chronic renal insufficiency. VI. Hematic 3-hydroxybutyrate and the 3-hydroxybutrate-acetoacetate ratio

artículo científico

Oral Health Status and Salivary Levels of Mutans Streptococci in Children with Down Syndrome

artículo científico publicado en 2015

Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL.

artículo científico publicado en 1994

Pharmacoepidemiology and thalidomide embryopathy surveillance in Brazil

artículo científico publicado en 2015

Polymorphisms and genetic susceptibility of type 1 diabetes mellitus and celiac disease.

artículo científico publicado en 2015

Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil

article

Polymorphisms in the endothelial nitric oxide synthase gene in thalidomide embryopathy

artículo científico publicado en 2013

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil ⬇️

artículo científico publicado en 2009

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

artículo científico publicado en 2016

Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study

article

Prenatal alcohol exposure as a risk factor for dysfunctional behaviors: the role of the pediatrician

Prenatal alcohol exposure as a risk factor for dysfunctional behaviors: the role of the pediatrician.

artículo científico publicado en 2008

Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing

artículo científico publicado en 2011

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil

artículo científico publicado en 2018

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

artículo científico publicado en 2012

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.

artículo científico publicado en 2011

Primary prevention of neural tube defects in Brazil: insights into anencephaly

artículo científico publicado en 2015

Profile of congenital anomalies among live births in the municipality of Tangará da Serra, Mato Grosso, Brazil, 2006-2016

article

Project REENCONTRO: ethical aspects of genetic identification in families separated by the compulsory isolation of leprosy patients in Brazil

artículo científico publicado en 2015

Prospective evaluation of pregnant women vaccinated against rubella in southern Brazil

article

Protein-calorie melnutrition in hemodialysis patients

artículo científico publicado en 1980

Psychomotor agitation and mood instability in patients with autism spectrum disorders: A possible effect of SLC6A4 gene?

article

Recent trends in the therapy of hyperlipidemia in nephrotic syndrome

artículo científico publicado el 1 de octubre de 1973

Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings

artículo científico publicado en 2013

Relationship between whole-body protein turnover and serum creatinine in chronically uremic patients

artículo científico publicado en 1998

Renal clearance of lysozyme in various kidney diseases

artículo científico publicado el 15 de diciembre de 1975

Renal clearance of malate dehydrogenase in various kidney diseases

artículo científico publicado el 15 de diciembre de 1975

Reproductive Risk Factors Related to Socioeconomic Status in Pregnant Women in Southern Brazil

article

Reproductive results associated with misoprostol and other substances utilized for interruption of pregnancy

artículo científico publicado en 2005

Retinoblastoma in a pediatric oncology reference center in Southern Brazil

artículo científico publicado en 2016

Salivary secretory IgA concentration and dental caries in children with Down syndrome

artículo científico publicado en 2017

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

artículo científico publicado en 2016

Self-assessment of color categories and its relationship with HLA profiling in Brazilian bone marrow donors.

artículo científico publicado en 2015

So close, so far away: analysis of surnames in a town of twins (Cândido Godói, Brazil).

artículo científico publicado en 2013

Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations.

artículo científico publicado en 2017

Spatial analyzes of HLA data in Rio Grande do Sul, south Brazil: genetic structure and possible correlation with autoimmune diseases

article

Spatial and temporal analysis of infant mortality from congenital malformations in Brazil (1996-2010).

artículo científico publicado en 2013

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

artículo científico publicado en 2015

Teratogens: a public health issue - a Brazilian overview

artículo científico publicado en 2017

Thalidomide embryopathy: Follow-up of cases born between 1959 and 2010.

artículo científico publicado en 2015

The Genetic Basis of Autism Spectrum Disorder

scholarly article published 2015

The HLA-A, -B and -DRB1 polymorphism in a large dataset of South Brazil bone marrow donors from Rio Grande do Sul.

artículo científico publicado en 2016

The impact of thalidomide use in birth defects in Brazil

artículo científico publicado en 2016

The phenotypic spectrum of congenital Zika syndrome

scientific article (publication date: 22 March 2017)

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis

artículo científico publicado en 2019

The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss

scientific article published on 02 April 2019

The role of β3 integrin gene variants in Autism Spectrum Disorders--diagnosis and symptomatology

artículo científico publicado en 2014

Twin Peaks: A spatial and temporal study of twinning rates in Brazil

scientific article published on 20 July 2018

Twin Town in South Brazil: a Nazi's experiment or a genetic founder effect?

artículo científico publicado en 2011

Urinary excretion of alpha-glucosidase in various kidney diseases

artículo científico publicado el 15 de diciembre de 1975

Use of some enzymological research in clinical nephrology. Study of renal clearance of lysozyme and malate dehydrogenase and urinary alpha-glucosidase

artículo científico publicado el 1 de marzo de 1975

Why is congenital Zika syndrome asymmetrically distributed among human populations?

artículo científico publicado en 2018

ZIKA Virus and Neuroscience: the Need for a Translational Collaboration

artículo científico publicado en 2017

Zika Virus as a Possible Risk Factor for Autism Spectrum Disorder: Neuroimmunological Aspects

artículo científico publicado en 2018

Zika rash and increased risk of congenital brain abnormalities - Authors' reply

artículo científico publicado en 2017

Zika virus infection and congenital anomalies in the Americas: opportunities for regional action

artículo científico publicado en 2017

Zika virus: A new human teratogen? Implications for women of reproductive age.

artículo científico publicado en 2016

[Captopril in the treatment of arterial hypertension. Studies of the therapeutic effectiveness and the alleged nephrotoxicity of the drug]

artículo científico publicado en 1981

[Nutritional disorders in patients with chronic liver disease]

artículo científico publicado en 1982

[Paraneoplastic syndromes and the kidney]

artículo científico publicado en 1988

[Recent acquisitions in proteinuria. Physiopathological significance, methodological advance, clinical interpretation of urinary findings]

artículo científico publicado en 1981

p53 signaling pathway polymorphisms associated to recurrent pregnancy loss

artículo científico publicado en 2014

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