Results 21 to 30 of about 70 (41)

OSTEOCONDRODISPLASIA EM ESCÁPULA DE DIDELPHIS ALBIVENTRIS

, 2022
Didelphis albiventris, o gambá-de-orelha-branca, também conhecido por saruê, sariguê, timbu, cassaco, mucura e sariguê micurê, é um marsupial da ordem dos Didelfimorfos e família Didelphidae, sendo uma espécie nativa de países da América do Sul, como ...
Ramos do Amaral, Micaela, Borges Rodrigues Santos, Matheus, Candiota Souza, Erick, Stephany Bezerra Alves, Lorena, De Souza Junior, Paulo, Neri Siqueira, Giovana   +5 more
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Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I

Acta Médica del Centro, 2015
Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández, Noel Taboada Lugo, Lourdes Rodríguez Royero, Eliecer Anoceto Armiñana   +3 more
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Congenital spondyloepiphyseal dysplasia

Revista de Ciencias Médicas de Pinar del Río, 2017
Introduction: congenital spondyloepiphyseal dysplasia, a type of bone dysplasia manifest from the infancy stage, is caused by mutations in the COL2A1 gene, located on chromosome 12, causing defects in type II collagen, a major component of cartilage ...
Elayne Esther Santana
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Diastrophic dysplasia: prenatal diagnosis and review of the literature Displasia diastrófica: diagnóstico pré-natal e revisão da literatura

São Paulo Medical Journal, 2013
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
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Condrodisplasia metafisaria tipo Schmid: Reporte de un caso clínico

RESUMEN Las osteocondrodisplasias son un grupo heterogéneo de anormalidades en el desarrollo de huesos y cartílago. La condroplasia metafisaria tipo Schmid es la más frecuente dentro de su subgrupo, sin embargo, tiene una baja incidencia en comparación ...
Hernández P.,Vicente, Olivares L.,Claudia   +1 more
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Estudo genético-clinico, radiológico e anatomopatologico de osteocondrodisplasias letais

, 1994
BV UNIFESP: Teses e ...
Galera, Marcial Francis [UNIFESP]
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Qualitative and quantitative determination of urinary glycosaminoglycans in patients with osteochondrodysplasias [Determinación cualitativa y cuantitativa de glucosaminoglucanos urinarios en pacientes con osteocondrodisplasias.]

, 1990
A quantitative and qualitative assay of urinary glycosaminoglycans (GAGs) was performed, by means of spectrophotometry and electrophoresis in 37 patients with a suspected diagnosis of osteo-chondrodysplasia.
Contreras-Sanchez, O., Sanchez-Corona, J., Gallegos-Arreola, M.P.   +2 more
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Qualitative and quantitative determination of urinary glycosaminoglycans in patients with osteochondrodysplasias [Determinaci�n cualitativa y cuantitativa de glucosaminoglucanos urinarios en pacientes con osteocondrodisplasias.]

, 1990
A quantitative and qualitative assay of urinary glycosaminoglycans (GAGs) was performed, by means of spectrophotometry and electrophoresis in 37 patients with a suspected diagnosis of osteo-chondrodysplasia.
Contreras-Sanchez, O., Sanchez-Corona, J., Gallegos-Arreola, M.P.   +2 more
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Study of mutations in the COL2A1 gene in a cohort of patients with skeletal dysplasias of type 2 collagenopathy group according to clinical and radiological criteria

, 2018
Orientadores: Denise Pontes Cavalcanti, Luciana Cardoso BonadiaDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: As displasias esqueléticas ou osteocondrodisplasias são doenças genéticas que afetam o ...
Silveira, Karina da Costa, 1989-
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New contributions about the genotype-phenotype correlation of the FGFR3 group from the study of a cohort of patients with typical or suggestive phenotype

, 2018
Orientadores: Denise Pontes Cavalcanti, Luciana Cardoso BonadiaTexto em português e inglêsDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: Entre as osteocondrodisplasias (OCD) destacam-se as displasias ...
Kanazawa, Thatiane Yoshie, 1988-
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