scholarly journals Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

2015 ◽  
Vol 60 (5) ◽  
pp. 241-252 ◽  
Author(s):  
Linnea M Baudhuin ◽  
Katrina E Kotzer ◽  
Susan A Lagerstedt
Keyword(s):  
Marfan Syndrome ◽  
Missense Variants

scholarly journals 166 Functional characterization of missense variants in ABCC6, the gene responsible for pseudoxanthoma elasticum

2021 ◽  
Vol 141 (5) ◽  
pp. S29
Author(s):  
J. Huang ◽  
L. Kowal ◽  
J. Singh ◽  
A.E. Snook ◽  
J. Uitto ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Pseudoxanthoma Elasticum ◽  
Missense Variants

scholarly journals Characterization of microRNA Profile in the Blood of Patients with Marfan Syndrome

2017 ◽  
Vol 65 (S 02) ◽  
pp. S111-S142
Author(s):  
L. Motsch ◽  
M. Abu-Halima ◽  
E. Meese ◽  
A. Keller ◽  
T. Rädle-Hurst ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Microrna Profile

scholarly journals Structural characterization of rare missense variants within known neurodegenerative disease proteins

2020 ◽  
Vol 16 (S2) ◽  
Author(s):  
Ellen L. Palmer ◽  
Christopher Moth ◽  
Penelope Benchek ◽  
Nicholas R. Wheeler ◽  
Brian W. Kunkle ◽  
...  
Keyword(s):  
Neurodegenerative Disease ◽  
Structural Characterization ◽  
Missense Variants

scholarly journals MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

2018 ◽  
Vol 21 (1) ◽  
pp. 144-151 ◽  
Author(s):  
Stephanie E. Wallace ◽  
Ellen S. Regalado ◽  
Limin Gong ◽  
Alexandra L. Janda ◽  
Dong-chuan Guo ◽  
...  
Keyword(s):  
Aortic Disease ◽  
Pregnancy Risk ◽  
Missense Variants ◽  
Pathogenic Variants

A method for morphological characterization of dural ectasia in marfan syndrome

2009 ◽  
Author(s):  
M.I. Iacono ◽  
K. Passera ◽  
L. Magrassi ◽  
R. Dore ◽  
P. Lago ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Morphological Characterization ◽  
Dural Ectasia

scholarly journals Pharmacological Characterization of Human Incretin Receptor Missense Variants

2009 ◽  
Vol 332 (1) ◽  
pp. 274-280 ◽  
Author(s):  
Jean-Philippe Fortin ◽  
Jonathan C. Schroeder ◽  
Yuantee Zhu ◽  
Martin Beinborn ◽  
Alan S. Kopin
Keyword(s):  
Pharmacological Characterization ◽  
Missense Variants

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants inGATM

2016 ◽  
Vol 37 (9) ◽  
pp. 926-932 ◽  
Author(s):  
Caro-Lyne DesRoches ◽  
Theodora Bruun ◽  
Peixiang Wang ◽  
Christian R. Marshall ◽  
Saadet Mercimek-Mahmutoglu
Keyword(s):  
Functional Characterization ◽  
Missense Variants
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