1. Cytogenetic abnormalities, WHO classification, and evolution of children and adolescents with acute myeloid leukemia

ABSTRACT Objectives: To describe cytogenetic and molecular abnormalities observed in children and adolescents with acute myeloid leukemia (AML), classify AML according to the World Health Organization (WHO) classifications from 2008 and 2016, and evaluate the prognosis according to clinical characteristics and cytogenetic abnormalities. Methods: A retrospe

Hematol., Transfus. Cell Ther.. Publicado em: 10/10/2019

2. How diseases became “genetic”

Resumo O presente artigo tem o objetivo de examinar as origens do termo “doença genética. No final do século XIX e início do XX, a vaga ideia que a doença manifesta entre familiares refletia uma “predisposição” familiar, foi substituída pela visão que essas doenças possuem causas específicas, enquanto a genética mendeliana forneceu as pista

Ciênc. saúde coletiva. Publicado em: 26/09/2019

3. Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog

Abstract: Here we describe an eight-year-old miniature schnauzer (MS) dog from Brazil with Persistent Mullerian Duct Syndrome (PMDS) and the single base pair substitution in AMHR2 exon 3, first detected in this breed in the USA. This finding is evidence of mutation dissemination to South America. In PMDS, a type of XY Disorder of Sex Development (DSD), dogs

An. Acad. Bras. Ciênc.. Publicado em: 19/06/2019

4. Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2 associated with CdCs using syste

Genet. Mol. Biol.. Publicado em: 11/04/2019

5. Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births

Abstract Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APO

Genet. Mol. Biol.. Publicado em: 31/07/2017

6. Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of su

Int. braz j urol.. Publicado em: 2015-10

7. Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses

Braz J Med Biol Res. Publicado em: 25/07/2014

8. Recognition of facial emotional expressions and its correlation with cognitive abilities in children with Down syndrome

Down syndrome (DS) is one of the most common chromosomal abnormalities. Delays in cognitive development are found in the first years of life. As years pass, it may turn into intellectual deficiencies that unfold into several aspects, including difficulty recognizing emotional facial expressions. The present study investigated the recognition of six universal

Psychol. Neurosci.. Publicado em: 2014-06

9. Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome

The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography

An. Bras. Dermatol.. Publicado em: 2014-01

10. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

Introduction  Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromoso

Int. Arch. Otorhinolaryngol.. Publicado em: 2014-01

11. Homicide and Klinefelter syndrome: a complex interaction

Introduction: Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. Methods: We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment

Rev. Bras. Psiquiatr.. Publicado em: 23/12/2013

12. Aspectos clínicos e citogenéticos da síndrome de Bloom / Clinical and citogenetics aspects of Bloom syndrome

Introdução: A síndrome de Bloom (SB) é uma síndrome de instabilidade cromossômica rara, transmitida por herança autossômica recessiva. Caracteriza-se por deficiência de crescimento pré e pós-natal, microcefalia, hipoplasia malar, eritema telangiectásico em face e comprometimento do sistema imunológico. Os pacientes com SB apresentam predisposiç

IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/04/2012