Genetic Counseling
Mostrando 1-12 de 115 artigos, teses e dissertações.
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1. Autopsy in a Neonatal Intensive Care Unit: pathological and clinical agreement
Abstract Objectives To evaluate neonatal autopsy rates at a tertiary hospital in southern Brazil ascertain the level of agreement between premortem and postmortem diagnosis. Methods The authors reviewed all neonatal autopsies performed over a 10-year period and described the percentage of neonates who died and underwent autopsy. The authors tested for agre
Jornal de Pediatria. Publicado em: 2022
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2. Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome
SUMMARY OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing
Revista da Associação Médica Brasileira. Publicado em: 2022
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3. Identification of genomic imbalances in oral clefts
Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defec
J. Pediatr. (Rio J.). Publicado em: 2021-06
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4. Merging Pediatric Index of Mortality (a physiologic instability measure), lactate, and Systemic Inflammation Mortality Risk to better predict outcome in pediatric sepsis
Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defec
J. Pediatr. (Rio J.). Publicado em: 2021-06
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5. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the ter
J. Pediatr. (Rio J.). Publicado em: 2021-04
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6. Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach,
Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In
An. Bras. Dermatol.. Publicado em: 2021-03
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7. Anais Brasileiros de Dermatologia: 2016-2020 Administration. Actions and acknowledgements
Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In
An. Bras. Dermatol.. Publicado em: 2021-03
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8. Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be n
Int. J. Cardiovasc. Sci.. Publicado em: 2020-07
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9. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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10. Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases
Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have
Genet. Mol. Biol.. Publicado em: 14/11/2019
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11. Prevalência de hemoglobinopatias na população adulta brasileira: Pesquisa Nacional de Saúde 2014-2015
RESUMO: Objetivo: Descrever a prevalência das hemoglobinopatias da população adulta brasileira, segundo exames laboratoriais da Pesquisa Nacional de Saúde. Métodos: Estudo descritivo realizado com os dados laboratoriais da Pesquisa Nacional de Saúde coletados entre os anos de 2014 e 2015. A pesquisa de hemoglobinopatias foi feita pelo método da cr
Rev. bras. epidemiol.. Publicado em: 07/10/2019
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12. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019