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Displasia campomélica. Descripción de un caso.
(2013-10-24)
La displasia campomélica es una alteración del desarrollo óseo que se presenta de forma austosómica dominante. Se caracteriza
por el encorvamiento de los fémures y tibias, junto con otras alteraciones orofaciales, ...
Osteocondrodisplasia de tipo displasia campomélica
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2018-04-26)
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
(2022)
Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene. Case ...
Clinical And Molecular Characterization Of A Brazilian Cohort Of Campomelic Dysplasia Patients, And Identification Of Seven New Sox9 Mutations
(SOC BRASIL GENETICARIBEIRAO PRET, 2015)
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
(2013)
Abstract
Background
The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box ...
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
(2013-05-07)
Abstract
Background
The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities ...
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
(2013-05-07)
Abstract
Background
The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities ...
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
(Nature Publishing, 2015)
Duplications in the similar to 2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46, XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its ...
Medida do volume pulmonar fetal por US 3D como marcador de letalidade em fetos com displasias ósseas
(Universidade Federal de Minas GeraisUFMG, 2013-06-28)
Objective: to study the capacity of three-dimensional ultrasound (3D US) in predicting lethality in fetuses with skeletal dysplasia. Methods: 24 fetuses were studied and bilateral lung scans were performed during one ...