Mlpa
Mostrando 1-12 de 66 artigos, teses e dissertações.
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1. Investigação Citogenômica de Crianças com Doença Cardíaca Congênita: Experiência de um Centro no Brasil
Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar
Arquivos Brasileiros de Cardiologia. Publicado em: 2022
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2. 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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3. Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabet
Arch. Endocrinol. Metab.. Publicado em: 02/05/2019
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4. Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (h
Arch. Endocrinol. Metab.. Publicado em: 2017-12
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5. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromos
Genet. Mol. Biol.. Publicado em: 02/10/2017
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6. Desequilíbrios genômicos na cardiopatia congênita sindrômica,
Resumo Objetivo: Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Métodos: Foram avaliados por microarray cromossômico (CMA) 78 pacientes negativos para a deleção 22q11.2, previamente testados por hibridaç
J. Pediatr. (Rio J.). Publicado em: 2017-10
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7. Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagno
Clinics. Publicado em: 2017-09
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8. Detection of tuberculosis drug resistance: a comparison by Mycobacterium tuberculosis MLPA assay versus Genotype®MTBDRplus
BACKGROUND To cope with the emergence of multidrug-resistant tuberculosis (MDR-TB), new molecular methods that can routinely be used to screen for a wide range of drug resistance related genetic markers in the Mycobacterium tuberculosis genome are urgently needed. OBJECTIVE To evaluate the performance of multiplex ligaton-dependent probe amplification (M
Mem. Inst. Oswaldo Cruz. Publicado em: 2017-06
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9. A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy
SUMMARY Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to repo
Arch. Endocrinol. Metab.. Publicado em: 25/08/2016
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10. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible
Genet. Mol. Biol.. Publicado em: 2016-06
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11. Estudo retrospectivo de cariótipo em pacientes com retardo mental
RESUMO Objetivo: descrever as alterações cromossômicas em pacientes com retardo mental (RM) pela análise do cariótipo com bandas G. Método: foi realizado um estudo retrospectivo dos resultados de cariótipo com bandas G de 369 pacientes em investigação de RM. A partir dos rearranjos estruturais encontrados, foram levantadas todas as regiões cromos
Rev. Assoc. Med. Bras.. Publicado em: 2016-06
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12. Investigação da Variação no Número de Cópias Gênicas em Crianças com Defeito Cardíaco Conotruncal
Fundamento:Os defeitos cardíacos congênitos são o grupo de anormalidades estruturais mais prevalentes ao nascimento e uma das principais causas de morbidade e mortalidade infantil. Estudos têm mostrado a contribuição da variação no número de cópias na gênese das malformações cardíacas.Objetivos:Investigar a variação no número de cópias gên
Arq. Bras. Cardiol.. Publicado em: 11/11/2014