Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 70

1.

Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.

Mann K, Petek E, Pertl B.

Methods Mol Biol. 2019;1885:139-160. doi: 10.1007/978-1-4939-8889-1_10.

PMID:
30506196
2.

Epigenetics of the molecular clock and bacterial diversity in bipolar disorder.

Bengesser SA, Mörkl S, Painold A, Dalkner N, Birner A, Fellendorf FT, Platzer M, Queissner R, Hamm C, Maget A, Pilz R, Rieger A, Wagner-Skacel J, Reininghaus B, Kapfhammer HP, Petek E, Kashofer K, Halwachs B, Holzer P, Waha A, Reininghaus EZ.

Psychoneuroendocrinology. 2019 Mar;101:160-166. doi: 10.1016/j.psyneuen.2018.11.009. Epub 2018 Nov 10.

PMID:
30465968
3.

Time-lapse imaging provides further evidence that planar arrangement of blastomeres is highly abnormal.

Ebner T, Höggerl A, Oppelt P, Radler E, Enzelsberger SH, Mayer RB, Petek E, Shebl O.

Arch Gynecol Obstet. 2017 Dec;296(6):1199-1205. doi: 10.1007/s00404-017-4531-5. Epub 2017 Sep 20.

PMID:
28932956
4.

Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL.

Bengesser SA, Reininghaus EZ, Lackner N, Birner A, Fellendorf FT, Platzer M, Kainzbauer N, Tropper B, Hörmanseder C, Queissner R, Kapfhammer HP, Wallner-Liebmann SJ, Fuchs R, Petek E, Windpassinger C, Schnalzenberger M, Reininghaus B, Evert B, Waha A.

World J Biol Psychiatry. 2018;19(sup2):S21-S29. doi: 10.1080/15622975.2016.1231421. Epub 2016 Oct 14.

PMID:
27739341
5.

Characterization of the injection funnel during intracytoplasmic sperm injection reflects cytoplasmic maturity of the oocyte.

Krause I, Pohler U, Grosse S, Shebl O, Petek E, Chandra A, Ebner T.

Fertil Steril. 2016 Oct;106(5):1101-1106. doi: 10.1016/j.fertnstert.2016.06.015. Epub 2016 Jun 20.

PMID:
27336210
6.

Oocyte competence in in vitro fertilization and intracytoplasmic sperm injection patients suffering from endometriosis and its possible association with subsequent treatment outcome: a matched case-control study.

Shebl O, Sifferlinger I, Habelsberger A, Oppelt P, Mayer RB, Petek E, Ebner T.

Acta Obstet Gynecol Scand. 2017 Jun;96(6):736-744. doi: 10.1111/aogs.12941. Epub 2016 Jul 22.

PMID:
27317364
7.

Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender.

Ebner T, Tritscher K, Mayer RB, Oppelt P, Duba HC, Maurer M, Schappacher-Tilp G, Petek E, Shebl O.

J Assist Reprod Genet. 2016 Jan;33(1):49-57. doi: 10.1007/s10815-015-0609-9. Epub 2015 Nov 14.

8.

HLA-frequencies of Austrian umbilical cord blood samples.

Nerstheimer S, Tauscher P, Petek E, Schappacher-Tilp G.

Hum Immunol. 2015 Nov;76(11):863-7. doi: 10.1016/j.humimm.2015.09.049. Epub 2015 Sep 30.

PMID:
26431889
9.

Yellow laser acupuncture - A new option for prevention and early intervention of lifestyle-related diseases: A randomized, placebo-controlled trial in volunteers.

Litscher D, Wang G, Gaischek I, Wang L, Wallner-Liebmann S, Petek E.

Laser Ther. 2015 Mar 31;24(1):53-61. doi: 10.5978/islsm.15-OR-07.

10.

Viability of cumulus cells is associated with basal AMH levels in assisted reproduction.

Ebner T, Shebl O, Holzer S, Oppelt P, Petek E, Schappacher-Tilp G, Mayer RB.

Eur J Obstet Gynecol Reprod Biol. 2014 Dec;183:59-63. doi: 10.1016/j.ejogrb.2014.10.015. Epub 2014 Oct 20.

PMID:
25461354
11.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB.

Neurogenetics. 2014 May;15(2):117-27. doi: 10.1007/s10048-014-0394-0. Epub 2014 Mar 19.

PMID:
24643514
12.

Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.

Casper M, Petek E, Henn W, Niewald M, Schneider G, Zimmer V, Lammert F, Raedle J.

QJM. 2014 Jul;107(7):521-7. doi: 10.1093/qjmed/hcu036. Epub 2014 Feb 18.

PMID:
24554300
13.

Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

Marschik PB, Bartl-Pokorny KD, Tager-Flusberg H, Kaufmann WE, Pokorny F, Grossmann T, Windpassinger C, Petek E, Einspieler C.

Dev Neurorehabil. 2014 Feb;17(1):34-8. doi: 10.3109/17518423.2013.837537. Epub 2013 Oct 2.

14.

Efficacy of a sperm-selection chamber in terms of morphology, aneuploidy and DNA packaging.

Seiringer M, Maurer M, Shebl O, Dreier K, Tews G, Ziehr S, Schappacher-Tilp G, Petek E, Ebner T.

Reprod Biomed Online. 2013 Jul;27(1):81-8. doi: 10.1016/j.rbmo.2013.03.013. Epub 2013 Mar 27.

PMID:
23665264
15.

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW.

Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7.

PMID:
23393157
16.

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.

Zung A, Petek E, Ben-Zeev B, Schwarzbraun T, Ben-Yehoshua SJ.

Am J Med Genet A. 2011 Oct;155A(10):2469-72.

PMID:
22043488
17.

Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR.

Mann K, Petek E, Pertl B.

Methods Mol Biol. 2011;688:207-26. doi: 10.1007/978-1-60761-947-5_14.

PMID:
20938841
18.

Automatic retrieval of single microchimeric cells and verification of identity by on-chip multiplex PCR.

Kroneis T, Gutstein-Abo L, Kofler K, Hartmann M, Hartmann P, Alunni-Fabbroni M, Walcher W, Dohr G, Petek E, Guetta E, Sedlmayr P.

J Cell Mol Med. 2010 Apr;14(4):954-69. doi: 10.1111/j.1582-4934.2009.00784.x. Epub 2009 May 19.

19.

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903.

PMID:
19086034
20.

Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR.

Mann K, Petek E, Pertl B.

Methods Mol Biol. 2008;444:71-94. doi: 10.1007/978-1-59745-066-9_6.

PMID:
18425473
21.

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).

Kroepfl T, Petek E, Schwarzbraun T, Kroisel PM, Plecko B.

Clin Genet. 2008 May;73(5):492-5. doi: 10.1111/j.1399-0004.2008.00982.x. Epub 2008 Mar 12.

PMID:
18341605
22.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

23.

Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease").

Oliveira JR, Sobrido MJ, Spiteri E, Hopfer S, Meroni G, Petek E, Baquero M, Geschwind DH.

J Mol Neurosci. 2007;33(2):151-4.

PMID:
17917073
24.

Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification ("Fahr" Disease').

Oliveira JRM, Sobrido MJ, Spiteri E, Hopfer S, Meroni G, Petek E, Baquero M, Geschwind DH.

J Mol Neurosci. 2007 Oct;33(2):151-154. doi: 10.1007/s12031-007-0030-7. Epub 2007 Aug 1.

PMID:
29349717
25.

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.

Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.

Genet Couns. 2007;18(1):9-16.

PMID:
17515297
26.

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.

Schwarzbraun T, Ofner L, Gillessen-Kaesbach G, Schaperdoth B, Preisegger KH, Windpassinger C, Wagner K, Petek E, Kroisel PM.

Am J Med Genet A. 2007 Mar 15;143A(6):619-24. No abstract available.

PMID:
17318840
27.

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.

Am J Med Genet A. 2007 Jan 1;143A(1):92-4. No abstract available.

PMID:
17103455
28.

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.

Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB.

Mol Genet Genomics. 2007 Jan;277(1):71-81. Epub 2006 Oct 17.

PMID:
17043892
29.

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.

Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E.

Cytogenet Genome Res. 2006;115(1):84-9.

PMID:
16974087
30.

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E.

Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. Epub 2005 Nov 28.

PMID:
16829355
31.

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Ofner L, Raedle J, Windpassinger C, Schwarzbraun T, Kroisel PM, Wagner K, Petek E.

J Hum Genet. 2006;51(2):141-6. Epub 2005 Dec 20.

PMID:
16365682
32.

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.

Singer G, Schalamon J, Ainoedhofer H, Petek E, Kroisel PM, Höllwarth ME.

J Pediatr Surg. 2005 Nov;40(11):e47-50.

PMID:
16291141
33.

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

Hörl G, Kroisel PM, Wagner E, Tiran B, Petek E, Steyrer E.

Atherosclerosis. 2006 Jul;187(1):101-9. Epub 2005 Oct 10.

PMID:
16216249
34.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E.

Genomics. 2004 Sep;84(3):577-86.

PMID:
15498464
35.

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.

Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW, Spiel G, Artner V, Valtiner E.

Am J Med Genet A. 2004 Aug 15;129A(1):98-100. No abstract available.

PMID:
15266626
36.

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.

Nat Genet. 2004 Mar;36(3):271-6. Epub 2004 Feb 22.

PMID:
14981520
37.

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.

Hum Genet. 2003 Dec;114(1):99-109. Epub 2003 Sep 16.

PMID:
13680364
38.

Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome.

Petek E, Pertl B, Tschernigg M, Bauer M, Mayr J, Wagner K, Kroisel PM.

Genet Couns. 2003;14(2):239-44.

PMID:
12872820
39.

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H.

J Med Genet. 2003 Jul;40(7):520-5. No abstract available.

40.

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel PM.

J Hum Genet. 2003;48(6):283-7. Epub 2003 Apr 24.

PMID:
12836054
41.

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.

Clin Genet. 2003 Apr;63(4):297-302.

PMID:
12702163
42.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

43.

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.

Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel PM.

J Med Genet. 2003 Apr;40(4):e47. No abstract available.

44.

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM.

Am J Med Genet A. 2003 Mar 1;117A(2):122-6.

PMID:
12567408
45.

Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.

Windpassinger C, Kroisel PM, Wagner K, Petek E.

Cytogenet Genome Res. 2002;97(3-4):155-7.

PMID:
12438705
46.

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).

Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM.

Genet Couns. 2002;13(3):303-7.

PMID:
12416638
47.

The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.

Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, Scherer SW.

Genomics. 2002 Sep;80(3):283-94.

PMID:
12213198
48.

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

Windpassinger C, Kroisel PM, Wagner K, Petek E.

Gene. 2002 Jun 12;292(1-2):25-31.

PMID:
12119096
49.

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry.

Hennerbichler S, Schmied R, Petek E, Kroisel PM, Pertl B, Tiran B, Dohr G, Wintersteiger R, Sedlmayr P.

Cytometry. 2002 Jun 1;48(2):87-92.

50.

Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.

Tschernigg M, Petek E, Wagner K, Kroisel PM.

Genet Couns. 2002;13(1):29-33.

PMID:
12017235

Supplemental Content

Support Center