Petek E - Search Results

1

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: petek e. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786

2

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

Schaflinger E, Blatterer J, Khan AS, Kaufmann L, Auinger L, Tatrai B, Abbasi SW, Zeeshan Ali M, Abbasi AA, Al Kaissi A, Petek E, Wagner K, Ahmad Khan M, Windpassinger C. Schaflinger E, et al. Among authors: petek e. Gene. 2022 Jul 30;833:146582. doi: 10.1016/j.gene.2022.146582. Epub 2022 May 18. Gene. 2022. PMID: 35597529 Free article.

3

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment.

Windpassinger C, Petek E, Wagner K, Langmann A, Buiting K, Kroisel PM. Windpassinger C, et al. Among authors: petek e. Clin Genet. 2003 Apr;63(4):297-302. doi: 10.1034/j.1399-0004.2003.00059.x. Clin Genet. 2003. PMID: 12702163

4

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Ali MZ, Blatterer J, Khan MA, Schaflinger E, Petek E, Ahmad S, Khan E, Windpassinger C. Ali MZ, et al. Among authors: petek e. Mol Genet Genomic Med. 2020 Feb;8(2):e1060. doi: 10.1002/mgg3.1060. Epub 2020 Jan 10. Mol Genet Genomic Med. 2020. PMID: 31923348 Free PMC article.

5

Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly.

Petek E, Kroisel PM, Wagner K. Petek E, et al. Clin Genet. 1998 Nov;54(5):406-12. doi: 10.1111/j.1399-0004.1998.tb03754.x. Clin Genet. 1998. PMID: 9842993

6

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Windpassinger C, Wagner K, Petek E, Fischer R, Auer-Grumbach M. Windpassinger C, et al. Among authors: petek e. Hum Genet. 2003 Dec;114(1):99-109. doi: 10.1007/s00439-003-1021-6. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680364

7

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Muzammal M, Ali MZ, Brugger B, Blatterer J, Ahmad S, Taj S, Shah SK, Khan S, Enzinger C, Petek E, Wagner K, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: petek e. Metab Brain Dis. 2022 Jan;37(1):243-252. doi: 10.1007/s11011-021-00832-2. Epub 2021 Nov 1. Metab Brain Dis. 2022. PMID: 34719772 Free PMC article.

8

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.

Windpassinger C, Kroisel PM, Wagner K, Petek E. Windpassinger C, et al. Among authors: petek e. Gene. 2002 Jun 12;292(1-2):25-31. doi: 10.1016/s0378-1119(02)00649-2. Gene. 2002. PMID: 12119096

9

Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation.

Petek E, Windpassinger C, Egger H, Kroisel PM, Wagner K. Petek E, et al. Cytogenet Cell Genet. 2000;89(3-4):141-2. doi: 10.1159/000015594. Cytogenet Cell Genet. 2000. PMID: 10965104 No abstract available.

10

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: petek e. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520

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