Results 121 to 130 of about 10,344 (220)

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

, 2015
Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have beendemonstrated.We investigated the ...
Marc Sznajder, Chantal Stheneur, Boileau, Catherine, Catherine Boileau, Marie-thérèse Zabot, Nadine Hanna, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Sznajder, Marc, Gouya, Laurent, Mélodie Aubart, Delphine Detaint, Marie-sylvie Gross, Jondeau, Guillaume, Guillaume Jondeau, Laurent Gouya, Zabot, Marie-Thérèse, Stheneur, Chantal, Detaint, Delphine   +19 more
core   +1 more source

Familial Spontaneous Pneumothorax and FBN1 Mutations

American Journal of Respiratory and Critical Care Medicine, 2004
Cardy, CM, Maskell, NA, Handford, PA, Arnold, AG, Davies, RJ, Morrison, PJ, Thornley, PE   +6 more
openaire   +3 more sources

BMP15 Prevents Cumulus Cell Apoptosis Through CCL2 and FBN1 in Porcine Ovaries

, 2013
Background: Bone morphogenetic protein-15 (BMP15) is a maternal gene necessary for mammalian reproduction. BMP15 expression increased in oocytes accompanied by follicle growth and development.
Huiyu Liu, Changhong Li, Yan Gao, Lianjiang Zhang, Yu Ding, Xianfeng Yu, Jiabao Zhang, Lisheng Dai, Bo Zhai, Xu Li   +9 more
core   +1 more source

Identification of Novel FBN1 Mutations in Patients with Marfan Syndrome using DHPLC Analysis.

, 2003
Identification of Novel FBN1 Mutations in Patients with Marfan Syndrome using DHPLC Analysis. M. Grasso 1, S. Ansaldi 1, A. Mori 1, A. Pisani 1, L. Lanzarini 2, A. Pilotto 1, C. Lucchelli 1, L. Tavazzi 2, E.
M. Grasso, MORI, Antonio, E. Arbustini, A. Pisani, L. Lanzarini, S. Ansaldi, A. Pilotto, C. Lucchelli, L. Tavazzi   +8 more
core  

An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?

, 2014
Item does not contain fulltextMarfan syndrome (MFS) is caused by mutations in the FBN1 (fibrillin-1) gene, but approximately 10% of MFS cases remain genetically unsolved.
Laer, L. van, Salemink, Simone, Timmermans, Janneke, Cheriex, E.C., Timmermans, J., Fransen, Erik, Die-Smulders, C.E.M. de, Loeys, Bart L., Cheriex, Emile C., Bekkers, S.C., Gillis, E., Bekkers, Sebastiaan C. A. M., Kempers, Marlies, Bekkers, Sebastiaan C.A.M., Loeys, B.L., Fransen, E., De Die-Smulders, Christine E. M., Salemink, S., De Die-Smulders, Christine E.M., Kempers, M., Van Laer, Lut, Gillis, Elisabeth, Loeys, Bart   +22 more
core   +1 more source

Generation of an induced pluripotent stem cell line, JHUi005-A, from a Marfan Syndrome patient harboring a pathogenic c.3338-2A>C intronic splicing variant

Stem Cell Research
Marfan Syndrome, a connective tissue disorder caused by Fibrillin-1 (FBN1) gene mutations, induces disease in the ocular, musculoskeletal, and cardiovascular systems and increases aortic vulnerability to rupture associated with high mortality rates.
Franklyn D. Hall, III, Christine N. Miller, Sharon Gerecht, Kenneth R. Boheler   +3 more
doaj   +1 more source

FBN1 wt Allele [PDF]

, 2020
openaire   +1 more source

Large genomic fibrillin-1 ( FBN1 ) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome [PDF]

, 2018
Mutations in the FBN1 gene are the major cause of Marfan syndrome (MFS), an autosomal dominant connective tissue disorder, which displays variable manifestations in the cardiovascular, ocular, and skeletal systems.
Mátyás, Gábor, Marti, Myriam, Carrel, Thierry, Magyar, István, Patrignani, Andrea, Steinmann, Beat, Berger, Wolfgang, Henggeler, Caroline, Alonso, Sira, Arnold, Eliane   +9 more
core  

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

, 2003
FBN1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue. One of the unexplained features of MFS is the pathogenic mechanism that leads to marked inter- and intra-familial clinical variability, despite complete ...
Judge, DP, Furger, A, Halliday, D, Jefferson, A, Dietz, HC, Hutchinson, S, Firth, H, Handford, Penelope, Handford, PA   +8 more
core   +1 more source

FBN1 Coding Variants and Nonsyndromic Aortic Disease [PDF]

Circulation: Genomic and Precision Medicine, 2019
Scott M, Damrauer, Kara, Hardie, Rachel L, Kember, Renae, Judy, David, Birtwell, Heather, Williams, Daniel J, Rader, Reed E, Pyeritz   +7 more
openaire   +2 more sources