A5064162463- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Aging, Health, and Disability
- Health, Nursing, Elderly Care
- Academic Research in Diverse Fields
- CRISPR and Genetic Engineering
- Down syndrome and intellectual disability research
- Sexual Differentiation and Disorders
- Lysosomal Storage Disorders Research
- Hearing, Cochlea, Tinnitus, Genetics
- Maternal and Neonatal Healthcare
- Children's Physical and Motor Development
- Trypanosoma species research and implications
- Cellular transport and secretion
- Psychology and Mental Health
- Genomics and Chromatin Dynamics
- Oral and Craniofacial Lesions
- Sperm and Testicular Function
- Cleft Lip and Palate Research
- Healthcare during COVID-19 Pandemic
- Tracheal and airway disorders
- Reproductive Health and Technologies
- Ophthalmology and Eye Disorders
- Healthcare Regulation
Universidade Federal do Ceará
2021-2025
Universidade de São Paulo
2016-2023
Clinics Hospital of Ribeirão Preto
2023
Universidade Federal de Mato Grosso do Sul
2021
Universidade Federal de Campina Grande
2021
Universidade Federal de Uberlândia
2021
Universidade Federal do Triângulo Mineiro
2021
Universidade de Ribeirão Preto
2019
Abstract Background The routine genetic analysis for diagnosing male infertility has not changed over the last twenty years, and currently available tests can only determine etiology of 4% unselected infertile patients. Thus, to create new diagnostic assays, we must better understand molecular mechanisms infertility. Although next‐generation sequencing allows simultaneous hundreds genes discovery novel candidates related infertility, so far a few gene have enough sound evidence support...
Bi-allelic loss-of-function variants in FKBP6 cause human male infertility due to round spermatid arrest.Absence of this piRNA factor leads a reduction pachytene piRNAs, which likely disrupts piRNA-mediated translational regulation germ cells from midmeiosis on.In contrast many piRNA-factor mouse models, LINE-1 overexpression is not observed.
ABSTRACT Objective To describe a case of multiple endocrine neoplasia type 1 in the pediatric age group and its molecular diagnosis. Case description: An 11-year-old boy began to present generalized tonic-clonic seizures presence hypoglycemia, with high insulin dosage, leading suspicion insulinoma. Abdominal magnetic resonance imaging confirmed pancreatic nodule, which was surgically resected, resulting glycemic normalization. Low growth hormone levels hyperprolactinemia, secondary...
Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for phenotype. Male carriers of X-autosome are almost invariably infertile due interruption spermatogenesis, but mechanism is not fully understood. In this case report, we performed a combination classical cytogenetics (G-banding), molecular (fluorescence...
Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations GJB2 and GJB6 genes, pathogenic variants SLC26A4 gene have been reported as a cause of hereditary HL due to its role physiology inner ear. In this research we wanted investigate prevalence Brazilian patients with nonsyndromic prelingual HL. We applied high-resolution melting technique screen 88 DNA samples from unrelated deaf individuals that were previously screened for GJB2, MT-RNR1...
Jacobsen syndrome (JBS) is a contiguous gene deletion involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include variant Paris-Trousseau syndrome, transient thrombocytopenia related FLI1 hemizygous deletion. We investigated boy with features JBS using classic cytogenetic methods, FISH and high-resolution array CGH. proband was found have mosaic ring 11 resulting in 11q 8.6 Mb, leading copy number loss 52 genes....
ABSTRACT Objective: To describe an infant with craniofacial microsomia and recurrent respiratory distress associated aberrant right subclavian artery in order to review its most frequent congenital anomalies alert the pediatrician rarer more severe complications. Case description: This case report involves 18-month-old male infant, only son of non-consanguineous parents. At birth, child presented dysmorphisms (facial asymmetry, maxillary mandibular hypoplasia, macrostomia, grade 3 microtia,...