Results 151 to 160 of about 9,471 (216)

Generation of a human induced pluripotent stem cell line (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1 variants (c.2613A > C and c.684_736 + 4del)

, 2019
Baihui Ma, Mingyao Luo, Hang Yang, Tianjiao Li, Weiwei Liu, Faxiang Xu, Chang Shu, Guokai Chen, Zhou Zhou   +8 more
openalex   +1 more source

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation [PDF]

, 2008
Laurence Faivre, Gwenaëlle Collod‐Béroud, Bert Callewaert, A. H. Child, Christine Binquet, Élodie Gautier, Bart Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, C. Stheneur, Anatoli Kiotsekoglou, Paolo Comeglio, Nicola Marziliano, J. E. Wolf, O. Bouchot, Philippe Khau Van Kien, Christophe Béroud, Mireille Claustres, C. Bonithon-Kopp, Peter N. Robinson, Lesley C. Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Guillaume Jondeau, Cathérine Boileau   +27 more
openalex   +1 more source

Construction of a HSC activation-related lncRNA-miRNA-mRNA ceRNA regulatory network reveals potential molecules involved in liver fibrosis. [PDF]

Front Genet
Wan K, Zhou Q, Feng R, Liu T, Fan C, Pang X, Li Z, Zhou Q.   +7 more
europepmc   +1 more source

A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia. [PDF]

Cureus
Fakih H.
europepmc   +1 more source

FGF12 induces aberrant mechanosignaling in aortic smooth muscle cells during thoracic aortic aneurysm formation in Marfan syndrome mice. [PDF]

Exp Mol Med
Kim KL, Kim M, Hwang Y, Kim DK, Kim J, Lee JH, Son YW, Jang JH, Heo KS, Iwashita M, Kosodo Y, Suh W.   +11 more
europepmc   +1 more source

Identification of pathogenic variants for the development of ultra-long axial length in myopic children. [PDF]

PLoS One
Zhu Y, Li X, Chen Y, Xie H, Liu Y, Xu X, Wang J.   +6 more
europepmc   +1 more source

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. [PDF]

, 1996
Menglin Wang, Priya S. Kishnani, M Decker-Phillips, Stephen G. Kahler, Y T Chen, Maurice Godfrey   +5 more
openalex   +1 more source

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study. [PDF]

J Transl Med
Shen X, Chen Z, Jia W, Wang Y, Chen X, Xiao Y, Huo Q, Chen T, Jiang Y.   +8 more
europepmc   +1 more source

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1 [PDF]

, 2019
Eline Overwater, Kelly van Rossum, Marieke J.H. Baars, Alessandra Maugeri, Arjan C. Houweling   +4 more
openalex   +1 more source

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. [PDF]

PLoS Genet
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H.   +6 more
europepmc   +1 more source