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Candidate de novo variants and pathways in asd uncovered by whole-exome sequencing in a south american cohort
(Maestría en Ciencias BiológicasFacultad de CienciasDepartamento de Biología, 2014)
Further evidence of the importance of RIT1 in Noonan syndrome
(John Wiley & Sons, Inc.Hoboken, 2014-08-13)
Noonan syndrome (NS) is an autosomal dominant disorder consisting of short stature, short and/or webbed neck, distinctive facial features, cardiac abnormalities, cryptorchidism, and coagulation defects. NS exhibits genetic ...
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
(Karger, 2017)
Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal ...
Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack
(Springer, 2019)
Hereditary Hearing Loss (HHL) is a common trait affecting 1 in 2000 new born children. The presence of over 100 different genes involved in HHL, lead us to go on board with Whole Exome Sequencing (WES) in order to search ...
Germline variants in DNA repair genes are associated with young-onset head and neck cancer
(2021-11-01)
The genetic predisposition to head and neck carcinomas (HNSCC) and how the known risk factors (papillomavirus infection, alcohol, and tobacco consumption) contribute to the early-onset disease are barely explored. Although ...
Genetic epidemiology of familial ALS in Brazil
(Elsevier, 2023)
GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
(BioMed Central, 2018-01)
Background: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a ...
Whole-exome sequencing identifies RXRG and TH germline variants in familial isolated prolactinoma
(Universidade Federal de Minas GeraisUFMG, 2016-05-03)
Pituitary adenomas are common intracranial tumors that occur sporadically. In some rare cases this condition is identified in familial clusters and has no involvement with other endocrine tumors, a disorder identified as ...
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
(2022)
Background: Pediatric nonmalignant lymphoproliferative disorders (PLPDs) are clinically and genetically heterogeneous. Long-standing immune dysregulation and lymphoproliferation in children may be life-threatening, and a ...