scholarly journals Epigenetic Silencing of Lysyl Oxidase-Like-1 through DNA Hypermethylation in an Autosomal Recessive Cutis Laxa Case

2010 ◽  
Vol 130 (11) ◽  
pp. 2594-2601 ◽  
Author(s):  
Romain Debret ◽  
Valérie Cenizo ◽  
Géraldine Aimond ◽  
Valérie André ◽  
Martine Devillers ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Lysyl Oxidase ◽  
Epigenetic Silencing ◽  
Cutis Laxa ◽  
Dna Hypermethylation

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

Autosomal Recessive Cutis Laxa Type 1

2009 ◽  
pp. 196-196
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

scholarly journals ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

2014 ◽  
Vol 1 ◽  
pp. 203-212 ◽  
Author(s):  
D. Bahena-Bahena ◽  
J. López-Valdez ◽  
K. Raymond ◽  
R. Salinas-Marín ◽  
A. Ortega-García ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Syndrome Type ◽  
Mexican Mestizo

scholarly journals Epigenetic silencing of TTF-1/NKX2-1 through DNA hypermethylation and histone H3 modulation in thyroid carcinomas

2009 ◽  
Vol 89 (7) ◽  
pp. 791-799 ◽  
Author(s):  
Tetsuo Kondo ◽  
Tadao Nakazawa ◽  
Defu Ma ◽  
Dongfeng Niu ◽  
Kunio Mochizuki ◽  
...  
Keyword(s):  
Histone H3 ◽  
Epigenetic Silencing ◽  
Dna Hypermethylation ◽  
Thyroid Carcinomas

scholarly journals Autosomal recessive cutis laxa syndrome revisited

2009 ◽  
Vol 17 (9) ◽  
pp. 1099-1110 ◽  
Author(s):  
Éva Morava ◽  
Maïlys Guillard ◽  
Dirk J Lefeber ◽  
Ron A Wevers
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa
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