Brazilian patients
Clinical and molecular analysis of human reproductive disorders in Brazilian patients
... these patients (35). Although the number of Brazilian patients evaluated was small, these findings support the hypothesis that C566T mutation is prob- ably restricted to ...
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Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
... MLII patients have functionally impaired im- mune system that contributes to predisposition to ...three Brazilian patients with ML III ...in patients with ML III gamma is enough to allow the ...
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p53 immunostaining pattern in Brazilian patients with hepatocellular carcinoma
... difference in the results obtained (Fig. 2). Nontumorous areas either in the vicinity of HCC or in the 30 purely cirrhotic cases showed no p53 expression, even in foci of large cell dysplasia or adenomatous hyperplasia. ...
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Smith-Lemli-Opitz syndrome: Clinical and biochemical findings in Brazilian patients
... 30 patients clinically and determined their plasma levels of cholesterol and ...11 patients, the diagnosis was confirmed by ultraviolet spectrophotometry ...19 patients with normal laboratory ...
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Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
... We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the poly- merase ...
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BRCA1 mutations in Brazilian patients
... 47 Brazilian patients with breast/ovarian cancer, selected based on age at diagnosis, family history, tumor laterality, and presence of breast cancer in male ...(four patients), one four base-pair ...
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FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia
... 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy ...screen Brazilian patients with deleterious mutations on FANCD2 ...
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Copy number variation (CNV) identification, interpretation, and database from Brazilian patients
... The Brazilian population is highly admixed and still underrepresented in genomic databanks (Naslavsky et ...from Brazilian patients in order to improve the interpretation of their clinical ...
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Osteogenesis imperfecta in Brazilian patients
... in patients can provide the basis for accurate counseling re- garding prognosis and reproductive purposes, allowing the prevention of new cases of the disease in the ...OI patients for muta- tions in the 11 ...
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Nephrolithiasis in gout: prevalence and characteristics of Brazilian patients
... The main factors associated with nephrolithiasis in pa- tients with gout were described by Yu and Gutman [ 7 ]: low urine pH, elevated serum uric acid levels and ele- vated daily urine urate excretion, leading to mainly ...
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CLINICAL AND MOLECULAR ANALYSIS OF SPINAL MUSCULAR ATROPHY IN BRAZILIAN PATIENTS
... SMA patients. We studied both genes in 87 Brazilian SMA patients (20 type I, 14 type II and 53 type III) from 74 unrelated families, by using PCR and single strand conformation polymorphism ...
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Trypanosoma cruzi: parasite persistence in tissues in chronic chagasic Brazilian patients
... Patients and samples - The study was approved by the Research Ethics Committee of the Faculty of Medi- cal Sciences, State University of Campinas. DNA sam- ples isolated from paraffin-embedded tissue sections of ...
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Chronic symptoms and pulmonary dysfunction in post-tuberculosis Brazilian patients
... Conclusion: The high prevalence of chronic respiratory symptoms and pulmonary dysfunc-.. tion in post-tuberculosis patients indicates a need for further interventions to reduce social.[r] ...
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Risk factors and comorbidities in Brazilian patients with orofacial clefts
... as well as low supplementation of vitamins and minerals and use of analgesics, antibiotics, and antihypertensives during pregnancy. In addition, a high frequency of familial recurrence and mainly of parental ...
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Melanoma inhibitory activity in Brazilian patients with cutaneous melanoma
... 34. Garbe C, Leiter U, Ellwanger U, Blaheta HJ, Meier F, Rassner G, et al. Diagnostic value and prognostic significance of protein S-100beta, melanoma-inhibitory activity, and tyrosinase/MART-1 reverse ...
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The prevalence of human cytomegalovirus DNA in gliomas of Brazilian patients
... Members of the Herpesviridae family have been implicated in a number of tumours in humans. At least 75% of the human population has had contact with cytomegalovirus (HCMV). In this work, we screened 75 Brazilian ...
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Rarea -thalassemia deletions detected by MLPA in five unrelated Brazilian patients
... Patients P1 and P3 appear to have a 15 kb deletion (positions 162735-177934 according to the USCS Genome Browser, March 2006), which is similar to that described as -- GB by Harteveld et al. (2005) in a Dutch ...
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Genomic analysis of Brazilian patients with Fabry disease
... these patients are on enzyme replacement therapy with agalsidase α (patients 1, 2, 3, 4, 5, 6, and 7, belonging to families A, B, and C) or agalsidase ß (patient 8, family E) and have been described ...
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Genetic hearing loss: a study of 228 Brazilian patients
... In a study of over 3,100 patients with hearing loss, Fraser (1976) reported rates of 66% for AR, 30% for AD and 4% for XL inheritance. These figures vary in the other studies (Chung and Brown, 1970; Konigsmark and ...
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Idiopathic dystonia clinical, profile of 76 brazilian patients
... of the orbicularis oculi muscles. Tricks, such as opening the mouth widely or producing sounds may enable the patients to open their eyes. This decrease in intensity of the dystonia produced by voluntary movements ...
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