Lichtner P - Search Results

1

Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.

Holzinger A, Roscher AA, Landgraf P, Lichtner P, Kammerer S. Holzinger A, et al. Among authors: lichtner p. FEBS Lett. 1998 Apr 17;426(2):238-42. doi: 10.1016/s0014-5793(98)00354-8. FEBS Lett. 1998. PMID: 9599016 Free article.

2

Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.

Holzinger A, Mayerhofer P, Berger J, Lichtner P, Kammerer S, Roscher AA. Holzinger A, et al. Among authors: lichtner p. Biochem Biophys Res Commun. 1999 May 10;258(2):436-42. doi: 10.1006/bbrc.1999.0535. Biochem Biophys Res Commun. 1999. PMID: 10329405

3

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. Holzinger A, et al. Among authors: lichtner p. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/10.12.1299. Hum Mol Genet. 2001. PMID: 11406611

4

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P. Schuffenhauer S, et al. Among authors: lichtner p. J Med Genet. 1999 Mar;36(3):233-6. J Med Genet. 1999. PMID: 10204852 Free PMC article.

5

Genetic and structural characterization of the human mitochondrial inner membrane translocase.

Bauer MF, Gempel K, Reichert AS, Rappold GA, Lichtner P, Gerbitz KD, Neupert W, Brunner M, Hofmann S. Bauer MF, et al. Among authors: lichtner p. J Mol Biol. 1999 May 28;289(1):69-82. doi: 10.1006/jmbi.1999.2751. J Mol Biol. 1999. PMID: 10339406

6

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

7

Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.

Klopstock T, Elstner M, Lücking CB, Müller-Myhsok B, Gasser T, Botz E, Lichtner P, Hörtnagel K. Klopstock T, et al. Among authors: lichtner p. Neurosci Lett. 2005 May 13;379(3):195-8. doi: 10.1016/j.neulet.2004.12.061. Neurosci Lett. 2005. PMID: 15843062

8

Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping.

Hofmann S, Lichtner P, Schuffenhauer S, Gerbitz KD, Meitinger T. Hofmann S, et al. Among authors: lichtner p. Cytogenet Cell Genet. 1998;83(3-4):226-7. doi: 10.1159/000015185. Cytogenet Cell Genet. 1998. PMID: 10072584 No abstract available.

9

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.

10

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM. Giehl KA, et al. Among authors: lichtner p. Am J Hum Genet. 2012 Oct 5;91(4):754-9. doi: 10.1016/j.ajhg.2012.08.024. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000146 Free PMC article.

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