Genetic Counseling
Mostrando 13-24 de 115 artigos, teses e dissertações.
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13. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12
Rev. paul. pediatr.. Publicado em: 03/06/2019
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14. The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
Abstract Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioi
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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15. Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital
Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to th
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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16. Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected
Genet. Mol. Biol.. Publicado em: 11/04/2019
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17. Overview of Approaches to Mitochondrial Disease Therapy
Abstract Mitochondrial respiratory chain diseases are the most prevalent group of inherited neurometabolic disorders and are clinically, biochemically, and genetically heterogeneous. They may present at any stage of life and often manifest with severe multisystem disease, although single organ involvement is characteristic of some conditions such as Leber he
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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18. Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
Abstract X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptomatology of heterozygotes depends on the inactivation pattern of X chromosome. Hyperammonemic episodes
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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19. Androgen insensitivity syndrome: a review
ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8
Arch. Endocrinol. Metab.. Publicado em: 2018-03
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20. A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we h
Genet. Mol. Biol.. Publicado em: 21/09/2017
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21. Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to ute
An. Bras. Dermatol.. Publicado em: 2017
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22. Congenital hemangioma in spondylocostal dysostosis: a novel association
Abstract Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel asso
An. Bras. Dermatol.. Publicado em: 2016-10
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23. Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes re
Genet. Mol. Biol.. Publicado em: 2016-09
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24. Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital
Abstract The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of Brazilian genetic services providing oncogenetic care is extremely low for the continental dimension of the country and its population. Therefore, at-risk patients do not receive appropriate as
Genet. Mol. Biol.. Publicado em: 13/05/2016