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E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common mediterranean ancestor
(Freund Publishing House Ltd, 2008)
Mutations in the GH receptor gene have been identified as the cause of growth hormone insensitivity syndrome (GHIS), a rare autosomal recessive disorder. We studied the clinical and biochemical characteristics and the ...
Porphyria cutanea tarda due to primary hemochromatosis
(Elsevier, 2020)
Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach
(SAGE, 2020)
Prognostic markers for cancer can assist in the evaluation of survival probability of patients and help clinicians to assess the available treatment modalities. Gallbladder cancer (GBC) is a rare tumor that causes 165 087 ...
NOTCH3 gene mutation in a chilean cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family
(Elsevier, 2020)
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean ...
Macrozoospermia associated with mutations of AURKC gene: First case report in Latin America and literature review
(Elsevier, 2020)
A Chilean 35-year-old male patient with a history of primary infertility made an appointment at the Unit of Reproductive Medicine at Clinica Las Condes, Santiago, Chile. Multiple semen analyses revealed abnormal sperm ...
Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families Análisis molecular directo de mutaciones en el gen FMR-1 en pacientes con Síndrome de Xq frágil y sus familias
(1998)
Background: The unequivocal diagnosis of fragile Xq syndrome is based in the direct analysis of the underlying FMR-1 gene mutation, that consists in an increased number of trinucleotide CGG repetitions. Aim: To study ...
Premature thelarche from phenotype to genotype
(2008)
Premature thelarche is a benign condition, which has been described as a "variant of puberty". Early breast development is especially prevalent during the first year of life, when the gonadal axis is usually active. ...
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families
(Taylor and Francis Ltd, 2019)
Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which ...
BRCA1 and BRCA2 mutations in a South American population
(ELSEVIER, 2006-04-01)
A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes ...
Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel
(Elsevier, 2015)
Objective: Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. ...