Research Article

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05/25/2017
Animals; Carcinosarcoma; Chromosome aberrations; Dogs; Female; genomic instability; Heterochromatin; Karyotype; Mammary Neoplasms, Animal; Ploidies

This study searched a rare and aggressive type of cancer in dogs and humans, the breast carcinosarcoma. Both clinical and pathological traits of mammary carcinosarcomas in dogs are similar to humans, such as infrequent occurrence, fast tumor growth, and unfavorable prognosis when compared to carcinomas. Other possible alterations include chromosomal abnormalities that can be useful for the ... more

C.S.D. Morais; P.R.A.M. Affonso; J.A. Bitencourt; A.A. Wenceslau
06/29/2017
Droughts; environment; genomic instability; Hybridization, Genetic; Models, Genetic; Plant breeding; Quantitative Trait, Heritable; Stress, Physiological; Zea mays

In several crops, the water deficit is perhaps the main limiting factor in the search for high yields. The objective of this study was to evaluate the phenotypic stability of maize hybrids in environments with and without water restriction using the analytical factor (AF) approach. We evaluated 171 maize hybrids in 14 environments, divided into environments with (A1, A2, A3, A4, A5, A6, and A7 ... more

A.O. Santos; J.J. Nuvunga; C.P. Silva; L.P.M. Pires; R.G. Von Pinho; L.J.M. Guimarães; M. Balestre
09/27/2017
Brazil; Edible Grain; environment; genomic instability; Genotype; Plant breeding; Quantitative Trait, Heritable; Selection, Genetic; Selective breeding; Soybeans

Biplot analysis has often been used to recommend genotypes from different crops in the presence of the genotype x environment interaction (GxE). The objective of this study was to verify the association between the AMMI and GGE biplot methods and to select soybean genotypes that simultaneously meet high grain yield and stability to the environments belonging to the Edaphoclimatic Region 402, ... more

E.U.Ramos Junior; R.L. Brogin; V.P.C. Godinho; F.J.E. Botelho; F.D. Tardin; P.E. Teodoro
09/27/2017
Gene-Environment Interaction; Genetic variation; genomic instability; Hypocotyl; Models, Genetic; Plant breeding; Plant Leaves; Quantitative Trait, Heritable; Selective breeding; Soybeans

In order to obtain the certificate of cultivar protection, it is necessary to prove its distinctiveness, homogeneity, and stability. Currently, there are 37 descriptors for differentiating soybeans cultivars. However, they are still not enough and, as a result, it is necessary to create, identify, and evaluate new descriptors. This study was aimed at evaluating the genotypic and environment ... more

M.V.A. Chaves; N.S. Silva; R.H.O. Silva; G.L. Jorge; I.C. Silveira; L.A. Medeiros; R.L. Hamawaki; O.T. Hamawaki; A.P.O. Nogueira; C.D.L. Hamawaki
10/18/2013
Down syndrome; GATA1 mutation; Minimal residual disease; Myeloid leukemia in DS; Transient myeloproliferative disorder

It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of ... more

L.B. Queiroz; B.D. Lima; J.F. Mazzeu; R. Camargo; M.S. Córdoba; I.Q. Magalhães; C. Martins-de-Sá; I. Ferrari
08/28/2015
Down syndrome; Fertility; Heredity; Reciprocal translocation

We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman’s husband had a normal male karyotype and was phenotypically normal. During this first ... more

X.Y. Liu; Y.T. Jiang; R.X. Wang; L.L. Luo; Y.H. Liu; R.Z. Liu
04/26/2016
Congenital heart defect; Down syndrome; Individualized pathway aberrance score (iPAS)

The aim of this study was to identify disrupted pathways related to Down syndrome (DS), and DS-associated congenital heart defects (DS-CHD). The gene expression profile and pathway data of 10 human DS patients and 5 control samples in E-GEOD-1789 were recruited and analyzed by the individualized pathway aberrance score (iPAS) method, consisting of the data processing, gene-level ... more

Y.Q. Chen; T. Li; W.Y. Guo; F.J. Su; Y.X. Zhang; Y.Q. Chen; T. Li; W.Y. Guo; F.J. Su; Y.X. Zhang; Y.Q. Chen; T. Li; W.Y. Guo; F.J. Su; Y.X. Zhang
08/17/2017
Adolescent; Adult; Case-control studies; Child; Child, Preschool; Down syndrome; Female; Humans; Infant; Interleukin-6; male; Polymorphism, Single Nucleotide

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS ... more

M.F. Mattos; L. Uback; P.M. Biselli-Chicote; J.M. Biselli; E.M. Goloni-Bertollo; E.C. Pavarino
09/27/2017
Down syndrome; Heart Defects, Congenital; Humans; Infant; Karyotype; Klinefelter syndrome; male

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro

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