Now showing items 1-10 of 2026
SINDROME DE DUBOWITZ
A presentation of two cases of Dubowitz syndrome in monozigous twin girls. The syndrome is a rare congenital disorder, the main clinical aspects of which include retarded intrauterine and post-natal growth, microcephaly, ...
SINDROME DE DUBOWITZ
Shared Genetic Factors Influence Risk for Bipolar Disorder and Alcoholism
Bipolar disorder and alcoholism have high rate comorbidity, with more than 50% of alcoholism occurrence in bipolar disorder. While there is evidence that both disorders are heritable, it is unclear if the same genetic ...
Genetics of Thyroid Disorders
(De Gruyter - Sciendo, 2019)
Aspectos genéticos do transtorno obsessivo-compulsivo
(Associação Brasileira de Psiquiatria - ABP, 2001-10-01)
Since the first descriptions of obsessive-compulsive disorder (OCD), genetic factors have been implicated in the etiology of the illness. Twin studies show a high concordance rate for monozygotic twins. Family studies found ...
CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample
To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′-UTR of the gene ...
Genetics in eating disorders: extending the boundaries of research
(Associação Brasileira de Psiquiatria - ABP, 2006-09-01)
OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. ...
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders
(Public Library Science, 2015-09-18)
Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is ...
Ginecomastia em caprino da raça Moxotó.
(In: CONGRESSO BRASILEIRO DE MEDICINA VETERINÁRIA, 22., 1992, Curitiba. Resumos... Curitiba: Sociedade Paranaense de Medicina Veterinária, 1992. p. 397., 1992)