Ester S Ramos

Publications (9)24.45 Total impact

• Article: Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.

  Ana C Laus, Wagner A R Baratela, Lucimar A F Laureano, Silvio A Santos, Jair Huber, Ester S Ramos, Camila C Rebelo, Jeremy A Squire, Lucia Martelli
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  ABSTRACT: Trisomy 16q is a clinically recognizable entity presenting with a wide spectrum of abnormalities. Only five infants with a diagnosis of partial trisomy 16q13 → qter have been previously reported, and all died during the first year of life. We report the clinical and molecular cytogenetic findings in a patient with trisomy 16q13 → qter due to the presence of a supernumerary marker chromosome (SMC). The child presented with microcephaly, ambiguous genitalia, cardiac malformations and dysmorphic features. Cytogenetic investigation using GTG-banding, spectral karyotyping (SKY) and fluorescence in situ hybridization analyses revealed an SMC of maternal origin with karyotype der(15)t(15;16)(q13;q13). Specific genotype-phenotype correlations among different segments of the 16q region cannot yet be defined. We suggest that the involvement of the entire region spanning from 16q11 to 16q22 is necessary for the characteristic phenotype of the trisomy 16q.
  American Journal of Medical Genetics Part A 02/2012; 158A(4):821-7. · 2.39 Impact Factor
• Article: Identification of X chromosome copies by quantitative real-time polymerase chain reaction for population screening tests.

  Ester S Ramos, Juliana V Serafim, Paula L Takeuchi, Cintia R Marcondes, Adriane Araújo
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  ABSTRACT: We adapted a method that allows the identification of X chromosome copy number by quantitative real-time polymerase chain reaction (PCR) in a short amount of time. It may be used for sex and aneuploidy involving X chromosome large population screening tests.
  Fertility and sterility 11/2010; 94(6):2476-8. · 3.97 Impact Factor
• Article: Evaluation of IGF-2/ApaI polymorphism in pregnant women infected with human immunodeficiency virus type 1 taking antiretroviral drugs.

  Alessandra C Marcolin, Geraldo Duarte, Silvana M Quintana, Francielle M Araújo, Patrícia El Beitune, Carla V Gonçalves, Ester S Ramos
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  ABSTRACT: Studies carried out to assess the effects of antiretroviral drugs (ARV) in HIV-1 infected pregnant women have demonstrated carbohydrate intolerance. Some reports also refer to the effect of disturbances in the expression of the insulin-like growth factor (IGF) system on pancreas beta-cell function in humans and IGF-2/ApaI polymorphisms have been associated with obesity and features of the metabolic syndromes. In the present study, we tested the association between IGF-2/ApaI genotype and hyperglycemia in HIV-1 infected pregnant women receiving ARV. We studied IGF-2/ApaI polymorphism in 87 healthy pregnant women, 43 HIV-1 infected pregnant women taking ARV with hyperglycemia during pregnancy, and 43 HIV-1-negative pregnant women with gestational diabetes. Blood samples were obtained for DNA extraction, PCR and genotyping. Data were analyzed statistically by the Kolmogorov-Smirnov normality, ANOVA and chi-square tests. There were no significant differences in genotype frequency among the three groups analyzed. Considering the HIV-1-infected pregnant women, there were no significant differences in genotype frequency between the zidovudine group and the triple antiretroviral treatment group. There were no significant differences in allele frequencies among the groups evaluated. Non-white pregnant women tended to present the GG genotypes compared to white pregnant women. These results contribute to a better understanding of metabolic glycemic disorders in HIV-1-infected pregnant women using ARV, showing that IGF-2/ApaI polymorphisms are not responsible as a single causative factor of glycemic alterations. These data indicate that other variables should be studied in order to explain these glycemic abnormalities.
  Growth hormone & IGF research: official journal of the Growth Hormone Research Society and the International IGF Research Society 07/2009; 19(6):513-6. · 2.35 Impact Factor
• Article: Vascular endothelial growth factor genotypes and haplotypes are associated with pre-eclampsia but not with gestational hypertension.

  Valeria C Sandrim, Ana C T Palei, Ricardo C Cavalli, Francielle M Araújo, Ester S Ramos, Geraldo Duarte, Jose E Tanus-Santos
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  ABSTRACT: Vascular endothelial growth factor (VEGF) is relevant for normal pregnancy, and abnormalities in VEGF functions are associated with hypertensive disorders of pregnancy. Because there are few studies on how VEGF genetic polymorphisms affect susceptibility to pre-eclampsia (PE), and no studies on how they affect susceptibility to gestational hypertension (GH), we compared VEGF genotype and haplotype distributions in normotensive and hypertensive pregnancies. Genotypes and haplotypes for VEGF polymorphisms (C-2578A, G-1154A and G-634C) were determined in 303 pregnant women (108 healthy pregnant, HP; 101 with GH and 94 with PE). When white and non-white pregnant women were considered together, no significant differences were found in the distributions of VEGF genotypes or haplotypes (P > 0.05) in the three groups. However, with only white subjects, significant differences were found in genotypes distributions for two (C-2578A and G-634C) VEGF polymorphisms (both P < 0.05) between the HP and the PE groups. Importantly, the haplotype including the variants C-2578, G-1154 and C-634, which is associated with higher VEGF gene expression, was less common in the PE group compared with the HP group (4% versus 16%; P = 0.0047). However, we found no significant differences in VEGF haplotypes distributions when the HP and GH groups were compared (P > 0.05). These findings suggest a protective effect for the 'C-2578, G-1154 and C-634' haplotype against the development of PE, but no major effects of VEGF gene variants on susceptibility to GH.
  Molecular Human Reproduction 01/2009; 15(2):115-20. · 3.85 Impact Factor
• Article: eNOS haplotypes associated with gestational hypertension or preeclampsia.

  Valeria C Sandrim, Ana Ct Palei, Ricardo C Cavalli, Francielle M Araújo, Ester S Ramos, Geraldo Duarte, Jose E Tanus-Santos
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  ABSTRACT: Polymorphisms in the endothelial nitric oxide synthase (eNOS) gene have been inconsistently associated with preeclampsia. We compared genotype and haplotype frequencies of three eNOS gene polymorphisms in normotensive and hypertensive pregnancies. Genotypes and haplotypes for eNOS polymorphisms (T-786C, Glu298Asp and intron 4 b/a) were determined in 326 pregnant women (110 healthy pregnancies, 103 gestational hypertensives and 113 preeclamptic). No differences were observed in the frequencies of genotypes and alleles of the three polymorphisms among the groups (all p > 0.05). However, the haplotype 'T Glu a' was more common in healthy pregnancies than in gestational hypertensives or preeclamptic (20 vs 6 and 6%, respectively; p < 0.0032). Conversely, the haplotype 'C Glu a' was more common in gestational hypertensives and preeclamptic than in healthy pregnancies (17 vs 17 and 5%; p = 0.0061). These findings suggest a contribution of eNOS haplotypes to the development of hypertensive disorders of pregnancy that is obscured when specific eNOS genotypes alone are considered.
  Pharmacogenomics 10/2008; 9(10):1467-73. · 3.97 Impact Factor
• Article: Preliminary molecular studies on blepharocheilodontic syndrome.

  Erika L Freitas, Ciro D Martinhago, Ester S Ramos, Jeffrey C Murray, Vera L Gil-da-Silva-Lopes
  American Journal of Medical Genetics Part A 12/2007; 143A(22):2757-9. · 2.39 Impact Factor
• Article: Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

  Paula Sandrin-Garcia, Dagma V M Abramides, Lúcia R Martelli, Ester S Ramos, Antônio Richieri-Costa, Geraldo A S Passos
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  ABSTRACT: Velocardiofacial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients present hemizygous deletions on part of chromosome 22q11.2; suggestive that haploinsufficiency in this region is responsible for this etiology. Most 22q11.2 deletions occur sporadically, although in some cases the deletion may be transmitted. A total of 29 VCFS patients and their parents were genotyped using six consecutive polymorphic markers (STS) of the chromosome 22q11.2: D22S420, D22S941, D22S264, D22S306, D22S425, and D22S257. The results revealed that 72% (21/29) of the patients harbored a deletion involving the polymorphic markers D22S420, D22S941, and/or D22S264. Haplotype analysis showed that among the patients studied, the deletions were either of maternal or paternal origin. Our findings demonstrated that independently of their size, any deletion occurring in the VCFS critical region is enough to confer the patient phenotype.
  Molecular and Cellular Biochemistry 09/2007; 303(1-2):9-17. · 2.06 Impact Factor
• Article: Velocardiofacial syndrome with a rare t(2;22).

  Jair Huber, Claudia A Rainho, Marcus V Gomes, Silvio A Santos, Ester S Ramos
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  ABSTRACT: Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in some specific regions in these chromosomes. Patients with DiGeorge and Velocardiofacial syndromes have a deletion on 22q11 leading to haploinsufficiency for one or more gene(s). We report a patient with velocardiofacial syndrome in which cytogenetic and fluorescence in situ hybridization analysis showed a rare t(2;22) and deletion in the 22q11 region.
  Clinical Dysmorphology 08/2007; 16(3):181-3. · 0.54 Impact Factor
• Article: Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY.

  Carlos A Scrideli, Marcelo R Baruffi, Jeremy A Squire, Ester S Ramos, Jana Karaskova, Benjamin Heck, Luiz G Tone
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  ABSTRACT: Patients with 1q duplication have demonstrated a wide range of multiple congenital abnormalities. Alterations involving this chromosomal region have being described in hematopoietic malignancies and a series of candidate genes that may be associated with neoplasias have been mapped in this region. We describe a case of partial trisomy 1q "syndrome" and acute monocytic leukemia. Cytogenetic study of the bone marrow cells by GTG-banding and spectral karyotyping (SKY) showed dup(1)(q23q44) in all cells analyzed. The dismorphological features with the dup(1q) suggest a constitutional chromosome alteration and the first, in our knowledge, association of a trisomy 1q "syndrome" with AML.
  Leukemia Research 01/2006; 29(12):1465-7. · 2.92 Impact Factor