首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
spherophakia-brachymorphia syndrome相关文献:
The spherophakia-brachymorphia syndrome.
ROSENTHAL JW, KLOEPFER HW.
AMA Arch Ophthalmol. 1956 Jan;55(1):28-36. doi: 10.1001/archopht.1956.00930030030007.
PMID:13275173
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY, Keene DR, Renard M, De Backer J.
Gene. 2016 Oct 10;591(1):279-291. doi: 10.1016/j.gene.2016.07.033. Epub 2016 Jul 18.
PMID:27437668
[Spherophakia-brachymorphia syndrome].
Sonoda T.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):670-1.
PMID:11528957
[Spherophakia-brachymorphia syndrome].
Li ZH.
Zhonghua Yan Ke Za Zhi. 1985 Jul;21(4):232-4.
PMID:3930184
Weill-Marchesani Syndrome.
Marzin P, Cormier-Daire V, Tsilou E.
2007 Nov 1 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301293
Possible genetic carriers in the spherophakia-brachymorphia syndrome.
KLOEPFER HW, ROSENTHAL JW.
Am J Hum Genet. 1955 Dec;7(4):398-425.
PMID:13275462
Fibrillins.
Kumra H, Reinhardt DP.
Methods Cell Biol. 2018;143:223-246. doi: 10.1016/bs.mcb.2017.08.013. Epub 2017 Dec 8.
PMID:29310780
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.
Marelli S, Micaglio E, Taurino J, Salvi P, Rurali E, Perrucci GL, Dolci C, Udugampolage NS, Caruso R, Gentilini D, Trifiro' G, Callus E, Frigiola A, De Vincentiis C, Pappone C, Parati G, Pini A.
Diagnostics (Basel). 2023 Jul 5;13(13):2284. doi: 10.3390/diagnostics13132284.
PMID:37443678
Fibrillin protein pleiotropy: Acromelic dysplasias.
Sakai LY, Keene DR.
Matrix Biol. 2019 Jul;80:6-13. doi: 10.1016/j.matbio.2018.09.005. Epub 2018 Sep 13.
PMID:30219651
THE SPHEROPHAKIA-BRACHYMORPHIA SYNDROME: TWO CASES AMONG FIVE BROTHERS.
HOBBS IH.
Med J Aust. 1965 Jan 16;1(3):80-1. doi: 10.5694/j.1326-5377.1965.tb71405.x.
PMID:14265222
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3