Results 141 to 150 of about 9,471 (216)

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation

, 2017
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Yan Hong, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao   +11 more
openalex   +2 more sources

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome [PDF]

, 2020
Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi   +6 more
openalex   +1 more source

A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse. [PDF]

Sci Rep
Esdaile E, Houston K, Till BJ, Sutton RB, Scurrell E, Ling M, Hartley C, Bellone RR.   +7 more
europepmc   +1 more source

Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants. [PDF]

Mol Syndromol
Kolambage YD, Cooray AL, Priyawansha YGT, Hendalage DPB, Liyanage UA, Dissanayake VHW.   +5 more
europepmc   +1 more source

Discovering paracrine regulators of cell type composition from spatial transcriptomics using SPER. [PDF]

Bioinform Adv
Zhao T, Haber AL.
europepmc   +1 more source

A novel compound heterozygous mutation in <i>ADAMTS17</i> identified in a Chinese family with Weill-Marchesani syndrome. [PDF]

Int J Ophthalmol
Wu HY, Liu SW, Liu Z, Pei C, Wu CR, Gao S.   +5 more
europepmc   +1 more source

Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the <i>FBN1</i> gene

, 2021
Т. В. Маркова, Vladimir Kenis, Evgenii V. Melchenko, Tatyana Nagornova, Aysylu Murtazina, Е. Л. Дадали   +5 more
openalex   +1 more source

Marfan Syndrome and FBN1 Mutations _ Genome Disfunction Review

Marfan Syndrome is an autosomal dominant disorder that affects connective tissue integrity, primarily caused by mutations in the FBN1 gene. The syndrome manifests in the skeletal, cardiovascular, and ocular systems, often with life-threatening aortic complications.
openaire   +1 more source

Degradation of Elastic Fiber Triggers Lacrimal Gland Dysfunction in Marfan Syndrome Mice. [PDF]

Invest Ophthalmol Vis Sci
Xiao B, Hu L, Zhang X, Liu L, Young C, Liu X, Ye Q, Zheng D, Liang L, Jin G.   +9 more
europepmc   +1 more source

Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management. [PDF]

Cureus
Bahir AW, Bahir MA, Bahir Q, Shao G, Ying X.   +4 more
europepmc   +1 more source