Literature DB >> 17823719

Omodysplasia: the first reported Brazilian case.

Lílian Maria Albano, Luiz A N Oliveira, Débora R Bertola, Juliana F Mazzu, Chong Ae Kim.   

Abstract

Entities:  

Mesh：

Year:  2007        PMID： 17823719     DOI： 10.1590/s1807-59322007000400023

Source DB:  PubMed          Journal:  Clinics (Sao Paulo)        ISSN： 1807-5932            Impact factor:   2.365


× No keyword cloud information.
  4 in total

1.  Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Authors:  Ana Belinda Campos-Xavier; Danielle Martinet; John Bateman; Dan Belluoccio; Lynn Rowley; Tiong Yang Tan; Alica Baxová; Karl-Henrik Gustavson; Zvi U Borochowitz; A Micheil Innes; Sheila Unger; Jacques S Beckmann; Lauréane Mittaz; Diana Ballhausen; Andrea Superti-Furga; Ravi Savarirayan; Luisa Bonafé
Journal:  Am J Hum Genet       Date:  2009-05-28       Impact factor: 11.025

2.  Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Authors:  Allan Bayat; Morton Dunø; Maria Kirchhoff; Finn S Jørgensen; Gen Nishimura; Hanne B Hove
Journal:  Mol Syndromol       Date:  2020-03-07

3.  The Heparan Sulfate Proteoglycan Glypican-6 Is Upregulated in the Failing Heart, and Regulates Cardiomyocyte Growth through ERK1/2 Signaling.

Authors:  Arne O Melleby; Mari E Strand; Andreas Romaine; Kate M Herum; Biljana Skrbic; Christen P Dahl; Ivar Sjaastad; Arnt E Fiane; Jorge Filmus; Geir Christensen; Ida G Lunde
Journal:  PLoS One       Date:  2016-10-21       Impact factor: 3.240

4.  Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.

Authors:  Yue-Ping Wang; Da-Jia Wang; Zhi-Bin Niu; Wan-Ting Cui
Journal:  Mol Med Rep       Date:  2017-04-03       Impact factor: 2.952
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.