Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Karina C. Silveira"'
Autor:
Thatiane Yoshie Kanazawa, Karina C. Silveira, Cynthia Silveira, Benilton S. Carvalho, Denise P. Cavalcanti, Maria Dora Jazmin Lacarrubba-Flores
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 187(3)
Molecular diagnosis is important to provide accurate genetic counseling of skeletal dysplasias (SD). Although next-generation sequencing (NGS) techniques are currently the preferred methods for analyzing these conditions, some of the published result
Autor:
Carlos Ferreira, Karina C. Silveira, Virginia Fano, Rosario Ramos Mejía, Cristián García, Cecilia Mellado, Cynthia Silveira, Denise P. Cavalcanti, Maria Dora Jazmin Lacarrubba-Flores, Mariana del Pino, Angélica Moresco, Silvia Caino, Guillermo Lay-Son
Publikováno v:
Am J Med Genet C Semin Med Genet
Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources
Publikováno v:
American Journal of Medical Genetics Part A. 173:1186-1189
Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer synd
Autor:
Renata Lazari Sandoval, Karina C. Silveira, Robert Pogue, Gabriela Pintar de Oliveira, Denise P. Cavalcanti, Cristina Touguinha Neves Medina
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(4)
The thyroid hormone receptor interactor 11 (TRIP11) gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), a protein essential for the operation of the Golgi apparatus. It is known that null mutations in TRIP11 disrupt Golgi function a