Diagnosis

Human Genetics Research Article

Ectodermal dysplasias (group A): elaborationof a computerized database to help withgenetic-clinical diagnosis(Displasias ectod�?©rmicas do grupo A:elabora�?§�?£o de um banco de dadosinformatizado para aux�?lio ao diagn�?³sticogen�?©tico-cl�?nico)

Authors: Toni Lisboa Costa

Ectodermal dysplasias are conditions that involve structures derived from the ectoderm, such as the epidermis and its enclosures, constituting a large and complex nosologic group, composed of rare entities with genetic etiology (in their majority). Freire-Maia, in 1971 and 1977, proposed a clinical definition and a clinical-mn.. Read More»

Genet. Mol. Res. 1(3):

Human Genetics Research Article

Molecular detection of XO - Turner syndrome

Authors: Carlos Alberto Longui, Mylene Neves Rocha,Liana Carla Albuquerque Peres Martinho,Gustavo Gir Gomes, Ricardo Eustachio de Miranda,Thomas Alves de Souza Lima, M�?´nica Barbosa Melo and Osmar Monte

Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclea.. Read More»

Genet. Mol. Res. 1(3):

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Ectodermal dysplasias (group A): elaborationof a computerized database to help withgenetic-clinical diagnosis(Displasias ectod�?©rmicas do grupo A:elabora�?§�?£o de um banco de dadosinformatizado para aux�?­lio ao diagn�?³sticogen�?©tico-cl�?­nico)

Molecular detection of XO - Turner syndrome

Ectodermal dysplasias (group A): elaborationof a computerized database to help withgenetic-clinical diagnosis(Displasias ectod�?©rmicas do grupo A:elabora�?§�?£o de um banco de dadosinformatizado para aux�?lio ao diagn�?³sticogen�?©tico-cl�?nico)