María Silvia Pérez

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We have developed a simple and efficient SSCP (single strand conformational polymorphism) method for haplotype determination of beta2AR using four polymorphisms. The six different SSCP patterns were grouped into three major haplotypes named I, II and III. We studied a population of 199 individuals displaying all the haplotypes: 34.9% (group I), 36.1% (group(More)
BACKGROUND The Pro12Ala polymorphism (rs1801282), a nonsynonymous substitution of peroxisome proliferator-activated receptor-gamma (PPARG), has been robustly associated with type 2 diabetes. However, its role in metabolic syndrome (MetS) remains poorly understood. The associations among rs1801282, MetS and surrogate measures of insulin resistance (IR) were(More)
INTRODUCTION There are at least six subtypes of Maturity Onset Diabetes of the Young (MODY) with distinctive genetic causes. MODY 3 is caused by mutations in HNF1A gene, an insulin transcription factor, so mutations in this gene are associated with impaired insulin secretion. MODY 3 prevalence differs according to the population analyzed, but it is one of(More)
We have used fragments of the TSH receptor (TSHR) expressed in E. coli as glutathione S-transferase fusion proteins to produce rabbit polyclonal antibodies and a panel (n=5) of monoclonal antibodies to the extracellular fragment of the TSHR. The binding characteristics of the antibodies to linear, conformational, glycosylated and unglycosylated forms of the(More)
The polycystic ovary syndrome (PCOS) is a heterogeneous multifactorial endocrine metabolic disorder with genetic predisposition affecting 6% of women in the reproductive age. This syndrome is characterized by the presence of oligo-anovulation, hyperandrogenism and polycystic ovaries. Several genes have been postulated as responsible for the etiology of this(More)
OBJECTIVES The aim of the study was to understand which human papillomavirus (HPV) types are involved in external genital warts (GWs) in a group of Argentinian women in Buenos Aires. METHODS One hundred sixty consecutive women 15 to 45 years old with GWs were enrolled. All patients underwent confirmatory biopsy. In 150 of 160 patients, the diagnosis of(More)
OBJECTIVE To search for molecular changes in two Argentinian sisters with a clinical and biochemical diagnosis of 17alpha-hydroxylase deficiency. SUBJECTS Both patients had 46 XX karyotype, with sexual infantilism, primary amenorrhea, and hypertension. Other member of the first degree family did not have this deficiency. HORMONAL RESULTS: The patients(More)
Autoantibodies (Abs) to steroid 21-hydroxylase (21-OH) are a major component of adrenal cortex Abs and are characteristic of autoimmune Addison's disease. We have developed a new method for measuring Abs to 21-OH based on 125I-labeled recombinant human 21-OH produced in yeast. With this assay, 21-OH Abs were detected in 43 of 60 (72%) sera from patients(More)
In the present study, the molecular characterization of HPV variants 16, 18, 31, 58, 6 and 11 within the MY06/MY11 L1 genomic region was performed in 128 sequences. For HPV 16, all of the sequences analyzed had a 3 nucleotide insertion resulting in the insertion of serine in the L1 protein sequence; and 4 sequences had at least one single nucleotide(More)
BACKGROUND Maturity-onset diabetes of the young 2 (MODY2) is a form of diabetes that is clinically characterized by early age at onset and mild hyperglycemia, and has a low risk of late complications. It is often underdiagnosed due to its mild symptoms. To date, over 600 different GCK/MODY2 mutations have been reported. Despite only a few de novo mutations(More)