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Papers authored by Petek E

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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.

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

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 150B(6):817-26, 2009 Sep 5 - Who cited this? | PubMed ID: 19086034 | Fulltext

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

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

Clinical genetics 73(5):492-5, 2008 May - Who cited this? | PubMed ID: 18341605 | Fulltext

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1.

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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, and Quasthoff S

American journal of human genetics 82(1):88-99, 2008 Jan - Who cited this? | PubMed ID: 18179888 | Fulltext

Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR.

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Mann K, Petek E, and Pertl B

Methods in molecular biology (Clifton, N.J.) 444:71-94, 2008 - Who cited this? | PubMed ID: 18425473 | Fulltext

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

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

American journal of medical genetics. Part A 143(6):619-24, 2007 Mar 15 - Who cited this? | PubMed ID: 17318840 | Fulltext

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

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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, and Vincent JB

Molecular genetics and genomics : MGG 277(1):71-81, 2007 Jan - Who cited this? | PubMed ID: 17043892 | Fulltext

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

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Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H, Neitzel H, Sperling K, and Kroisel PM

American journal of medical genetics. Part A 143(1):92-4, 2007 Jan 1 - Who cited this? | PubMed ID: 17103455 | Fulltext

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

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

Genetic counseling (Geneva, Switzerland) 18(1):9-16, 2007 - Who cited this? | PubMed ID: 17515297 | Fulltext

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

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

Journal of molecular neuroscience : MN 33(2):151-4, 2007 - Who cited this? | PubMed ID: 17917073 | Fulltext

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

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

Atherosclerosis 187(1):101-9, 2006 Jul - Who cited this? | PubMed ID: 16216249 | Fulltext

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

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

Journal of human genetics 51(2):141-6, 2006 - Who cited this? | PubMed ID: 16365682 | Fulltext

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

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

European journal of medical genetics 49(4):338-45, 2006 - Who cited this? | PubMed ID: 16829355 | Fulltext

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

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

Cytogenetic and genome research 115(1):84-9, 2006 - Who cited this? | PubMed ID: 16974087 | Fulltext

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

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

Journal of pediatric surgery 40(11):e47-50, 2005 Nov - Who cited this? | PubMed ID: 16291141 | Fulltext

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

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

Genomics 84(3):577-86, 2004 Sep - Who cited this? | PubMed ID: 15498464 | Fulltext

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

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

American journal of medical genetics. Part A 129(1):98-100, 2004 Aug 15 - Who cited this? | PubMed ID: 15266626 | Fulltext

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

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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,

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Nature genetics 36(3):271-6, 2004 Mar - Who cited this? | PubMed ID: 14981520 | Fulltext

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

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Windpassinger C, Wagner K, Petek E, Fischer R, and Auer-Grumbach M

Human genetics 114(1):99-109, 2003 Dec - Who cited this? | PubMed ID: 13680364 | Fulltext

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.

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

Journal of medical genetics 40(7):520-5, 2003 Jul - Who cited this? | PubMed ID: 12843325 | Fulltext

Human chromosome 7: DNA sequence and biology.

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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,

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Science (New York, N.Y.) 300(5620):767-72, 2003 May 2 - Who cited this? | PubMed ID: 12690205 | Fulltext

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

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

Journal of medical genetics 40(4):e47, 2003 Apr - Who cited this? | PubMed ID: 12676920 | Fulltext

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

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Windpassinger C, Petek E, Wagner K, Langmann A, Buiting K, and Kroisel PM

Clinical genetics 63(4):297-302, 2003 Apr - Who cited this? | PubMed ID: 12702163 | Fulltext

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

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

American journal of medical genetics. Part A 117(2):122-6, 2003 Mar 1 - Who cited this? | PubMed ID: 12567408 | Fulltext

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

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

Journal of human genetics 48(6):283-7, 2003 - Who cited this? | PubMed ID: 12836054 | Fulltext

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

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

Genetic counseling (Geneva, Switzerland) 14(2):239-44, 2003 - Who cited this? | PubMed ID: 12872820 | Fulltext

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

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

Genomics 80(3):283-94, 2002 Sep - Who cited this? | PubMed ID: 12213198 | Fulltext

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

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

Gene 292(1-2):25-31, 2002 Jun 12 - Who cited this? | PubMed ID: 12119096 | Fulltext

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

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

Cytometry 48(2):87-92, 2002 Jun 1 - Who cited this? | PubMed ID: 12116369 | Fulltext

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection.

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Kroisel PM, Wagner K, Zierler H, and Petek E

Prenatal diagnosis 22(3):267-9, 2002 Mar - Who cited this? | PubMed ID: 11920908 | Fulltext

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

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

Genetic counseling (Geneva, Switzerland) 13(1):29-33, 2002 - Who cited this? | PubMed ID: 12017235 | Fulltext

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

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

Genetic counseling (Geneva, Switzerland) 13(3):303-7, 2002 - Who cited this? | PubMed ID: 12416638 | Fulltext

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

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

Cytogenetic and genome research 97(3-4):155-7, 2002 - Who cited this? | PubMed ID: 12438705 | Fulltext

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.

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Emberger W, Petek E, Kroisel PM, Zierler H, and Wagner K

American journal of medical genetics 104(4):312-8, 2001 Dec 15 - Who cited this? | PubMed ID: 11754067 | Fulltext

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

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Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, and Scherer SW

Genomics 78(1-2):7-11, 2001 Nov - Who cited this? | PubMed ID: 11707066 | Fulltext

Phenotype of five patients with Greig syndrome and microdeletion of 7p13.

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Kroisel PM, Petek E, and Wagner K

American journal of medical genetics 102(3):243-9, 2001 Aug 15 - Who cited this? | PubMed ID: 11484201 | Fulltext

Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11).

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Emberger W, Behmel A, Tschernigg M, Seewann HL, Petek E, Kroisel PM, and Wagner K

Cancer genetics and cytogenetics 129(1):76-9, 2001 Aug - Who cited this? | PubMed ID: 11520571 | Fulltext

Candidate region for Gilles de la Tourette syndrome at 7q31.

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Kroisel PM, Petek E, Emberger W, Windpassinger C, Wladika W, and Wagner K

American journal of medical genetics 101(3):259-61, 2001 Jul 1 - Who cited this? | PubMed ID: 11424142 | Fulltext

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

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Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, and Wagner K

American journal of human genetics 68(4):848-58, 2001 Apr - Who cited this? | PubMed ID: 11254443 | Fulltext

Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter).

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Petek E, Köstl G, Rauter L, Mutz I, Wagner K, and Kroisel PM

Clinical dysmorphology 10(2):151-3, 2001 Apr - Who cited this? | PubMed ID: 11310998 | Fulltext

A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity.

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Emberger W, Petek E, Plecko-Starting B, Kroisel PM, Zierler H, and Wagner K

Journal of medical genetics 37(11):892-6, 2000 Nov - Who cited this? | PubMed ID: 11185078 | Fulltext

Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q.

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Kroisel PM, Petek E, and Wagner K

Journal of medical genetics 37(9):723-5, 2000 Sep - Who cited this? | PubMed ID: 11182938 | Fulltext

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.

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Auer-Grumbach M, Löscher WN, Wagner K, Petek E, Körner E, Offenbacher H, and Hartung HP

Brain : a journal of neurology 123 ( Pt 8):1612-23, 2000 Aug - Who cited this? | PubMed ID: 10908191 | Fulltext

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.

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Petek E, Wagner K, Steiner H, Schaffer H, and Kroisel PM

Prenatal diagnosis 20(4):349-52, 2000 Apr - Who cited this? | PubMed ID: 10740212 | Fulltext

Complex chromosomal translocation in a patient with Kallmann syndrome.

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Kroisel PM, Petek E, Wagner K, and Kurnik P

American journal of medical genetics 91(3):240, 2000 Mar 20 - Who cited this? | PubMed ID: 10756352 | Fulltext

Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.

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Petek E, Köstl G, Mutz I, Wagner K, and Kroisel PM

Clinical dysmorphology 9(1):55-7, 2000 Jan - Who cited this? | PubMed ID: 10649799 | Fulltext

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

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Petek E, Windpassinger C, Egger H, Kroisel PM, and Wagner K

Cytogenetics and cell genetics 89(3-4):141-2, 2000 - Who cited this? | PubMed ID: 10965104 | Fulltext

Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.

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Emberger W, Windpassinger C, Petek E, Kroisel PM, and Wagner K

Cytogenetics and cell genetics 89(3-4):281-2, 2000 - Who cited this? | PubMed ID: 10965146 | Fulltext

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.

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Petek E, Kroisel PM, Schuster M, Zierler H, and Wagner K

American journal of medical genetics 84(3):229-32, 1999 May 28 - Who cited this? | PubMed ID: 10331598 | Fulltext

Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611.

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Petek E, Emberger W, Kroisel PM, and Wagner K

Cytogenetics and cell genetics 84(3-4):184-5, 1999 - Who cited this? | PubMed ID: 10393425 | Fulltext

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

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Petek E, Kroisel PM, and Wagner K

Clinical genetics 54(5):406-12, 1998 Nov - Who cited this? | PubMed ID: 9842993 | Fulltext

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