Lichtner P - Search Results

1

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.

Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H. Rudolph G, et al. Among authors: lichtner p. Am J Ophthalmol. 2003 May;135(5):681-7. doi: 10.1016/s0002-9394(02)02155-4. Am J Ophthalmol. 2003. PMID: 12719077

2

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

Bettecken T, Rubie C, Lichtner P, Siekiera M, Meitinger T, Stöber G. Bettecken T, et al. Among authors: lichtner p. Mol Cell Probes. 2002 Oct;16(5):379-84. doi: 10.1006/mcpr.2002.0438. Mol Cell Probes. 2002. PMID: 12477442

3

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Rubie C, Lichtner P, Gärtner J, Siekiera M, Uziel G, Kohlmann B, Kohlschütter A, Meitinger T, Stöber G, Bettecken T. Rubie C, et al. Among authors: lichtner p. Hum Mutat. 2003 Jan;21(1):45-52. doi: 10.1002/humu.10145. Hum Mutat. 2003. PMID: 12497630

4

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Lichtner P, König R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S. Lichtner P, et al. J Med Genet. 2000 Jan;37(1):33-7. doi: 10.1136/jmg.37.1.33. J Med Genet. 2000. PMID: 10633131 Free PMC article. Review.

5

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.

Winkelmann J, Lichtner P, Pütz B, Trenkwalder C, Hauk S, Meitinger T, Strom T, Muller-Myhsok B. Winkelmann J, et al. Among authors: lichtner p. Mov Disord. 2006 Jan;21(1):28-33. doi: 10.1002/mds.20627. Mov Disord. 2006. PMID: 16124010

6

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Rivera A, et al. Among authors: lichtner p. Hum Mol Genet. 2005 Nov 1;14(21):3227-36. doi: 10.1093/hmg/ddi353. Epub 2005 Sep 20. Hum Mol Genet. 2005. PMID: 16174643

7

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.

Wjst M, Lichtner P, Meitinger T, Grimbacher B. Wjst M, et al. Among authors: lichtner p. Eur J Hum Genet. 2009 Mar;17(3):352-6. doi: 10.1038/ejhg.2008.169. Epub 2008 Oct 8. Eur J Hum Genet. 2009. PMID: 18841165 Free PMC article.

8

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T. Schuffenhauer S, et al. Among authors: lichtner p. Eur J Hum Genet. 1998 May-Jun;6(3):213-25. doi: 10.1038/sj.ejhg.5200183. Eur J Hum Genet. 1998. PMID: 9781025

9

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

Hinney A, Bettecken T, Tarnow P, Brumm H, Reichwald K, Lichtner P, Scherag A, Nguyen TT, Schlumberger P, Rief W, Vollmert C, Illig T, Wichmann HE, Schäfer H, Platzer M, Biebermann H, Meitinger T, Hebebrand J. Hinney A, et al. Among authors: lichtner p. J Clin Endocrinol Metab. 2006 May;91(5):1761-9. doi: 10.1210/jc.2005-2056. Epub 2006 Feb 21. J Clin Endocrinol Metab. 2006. PMID: 16492696

10

Linkage disequilibrium patterns and tagSNP transferability among European populations.

Mueller JC, Lõhmussaar E, Mägi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. Mueller JC, et al. Among authors: lichtner p. Am J Hum Genet. 2005 Mar;76(3):387-98. doi: 10.1086/427925. Epub 2005 Jan 6. Am J Hum Genet. 2005. PMID: 15637659 Free PMC article.

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