C T Thiel
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Explore the profile of C T Thiel including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
148
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Recent Articles
1.
Ekici A, Hilfinger D, Jatzwauk M, Thiel C, Wenzel D, Lorenz I, et al.
Mol Syndromol
. 2010 Oct;
1(3):99-112.
PMID: 21031079
The etiology of non-syndromic hydrocephalus is poorly understood. Via positional cloning in a consanguineous family with autosomal recessive hydrocephalus we have now identified a homozygous splice site mutation in the...
2.
Huffmeier U, Lascorz J, Becker T, Schurmeier-Horst F, Magener A, Ekici A, et al.
J Med Genet
. 2009 Jun;
46(11):736-44.
PMID: 19525279
Background: Psoriasis is a genetically complex, chronic inflammatory skin disease. The authors have previously identified a susceptibility locus on chromosome 19p13 (PSORS6). Methods And Results: In a follow-up linkage disequilibrium...
3.
Bergmann C, Senderek J, Anhuf D, Thiel C, Ekici A, Poblete-Gutierrez P, et al.
Am J Hum Genet
. 2006 Dec;
79(6):1105-9.
PMID: 17186469
Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German nonconsanguineous family with four affected and five unaffected siblings with isolated...
4.
Rauch A, Zink S, Zweier C, Thiel C, Koch A, Rauch R, et al.
J Med Genet
. 2005 Apr;
42(11):871-6.
PMID: 15831592
Introduction: Clinical variability associated with the common 22q11.2 microdeletion is well known, and has led to a broad application of FISH diagnostics with probes for loci TUPLE1 or D22S75 (N25),...