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Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20.
Sander T, Hildmann T, Wienker TF, Ramel C, Beck-Mannagetta G, Bianchi A, Sailer U, Berek K, Bauer G, Neitzel H, Schmitz B, Durner M, Johnson KJ, Janz D. Sander T, et al. Among authors: neitzel h. Am J Med Genet. 1996 Feb 16;67(1):31-9. doi: 10.1002/(SICI)1096-8628(19960216)67:1<31::AID-AJMG5>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8678111
Breakpoints around the HOXD cluster result in various limb malformations.
Dlugaszewska B, Silahtaroglu A, Menzel C, Kübart S, Cohen M, Mundlos S, Tümer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Dlugaszewska B, et al. Among authors: neitzel h. J Med Genet. 2006 Feb;43(2):111-8. doi: 10.1136/jmg.2005.033555. Epub 2005 Jun 24. J Med Genet. 2006. PMID: 15980115 Free PMC article.
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H, Neitzel H, Sperling K, Kroisel PM. Varon R, et al. Among authors: neitzel h. Am J Med Genet A. 2007 Jan 1;143A(1):92-4. doi: 10.1002/ajmg.a.31540. Am J Med Genet A. 2007. PMID: 17103455 No abstract available.
103 results