Joana Cobilanschi
Overview
Explore the profile of Joana Cobilanschi including associated specialties, affiliations and a list of published articles.
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5
Citations
140
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0
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Recent Articles
1.
Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, et al.
J Med Genet
. 2014 Aug;
51(10):677-88.
PMID: 25106414
Background: Despite abundant evidence for pathogenicity of large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs <500 kb has not been well elucidated...
2.
Cobilanschi J
Praxis (Bern 1994)
. 2013 Nov;
102(24):1475-82.
PMID: 24280604
Cancer is caused by genetic alterations, but only 10% of the cancer diseases are inherited. The probability for an individual or a family of having inherited cancer, individual consequences of...
3.
Hempelmann A, Cobilanschi J, Heils A, Muhle H, Stephani U, Weber Y, et al.
Epilepsy Res
. 2007 Jan;
74(1):28-32.
PMID: 17215107
Purpose: Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902)...
4.
Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber Y, et al.
Ann Neurol
. 2006 May;
59(6):983-7.
PMID: 16718694
Objective: To detect mutations in GABRA1 in idiopathic generalized epilepsy. Methods: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected...
5.
Tilgen N, Pfeiffer H, Cobilanschi J, Rau B, Horvath S, Elger C, et al.
Neurosci Lett
. 2002 Nov;
334(1):68-70.
PMID: 12431777
Recently, an association between a regulatory polymorphism in the gene encoding the pro-inflammatory cytokine interleukin (IL)-1beta and febrile convulsions (FC) has been reported. In this study we attempted to confirm...