P M Kroisel

Summary

Affiliation: University of Graz
Country: Austria

Publications

  1. ncbi request reprint Phenotype of five patients with Greig syndrome and microdeletion of 7p13
    P M Kroisel
    Institute of Medical Biology and Human Genetics, Graz, Austria
    Am J Med Genet 102:243-9. 2001
  2. ncbi request reprint Candidate region for Gilles de la Tourette syndrome at 7q31
    P M Kroisel
    Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
    Am J Med Genet 101:259-61. 2001
  3. ncbi request reprint Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype
    M Mach
    Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz, Austria
    Genet Couns 18:9-16. 2007
  4. ncbi request reprint Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome
    W Emberger
    Institute of Medical Biology and Human Genetics, University of Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Am J Med Genet 104:312-8. 2001
  5. ncbi request reprint Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development
    T Schwarzbraun
    Institute of Medical Biology and Human Genetics, Medical University Graz, Austria
    Cytogenet Genome Res 115:84-9. 2006
  6. ncbi request reprint Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH
    E Petek
    Institute of Medical Biology and Human Genetics, University of Graz, Austria
    Clin Dysmorphol 9:55-7. 2000
  7. pmc Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome
    E Petek
    University of Graz, Institute for Medical Biology and Human Genetics, Graz, Austria
    Am J Hum Genet 68:848-58. 2001
  8. ncbi request reprint Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping
    W Emberger
    Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
    Cytogenet Cell Genet 89:281-2. 2000
  9. ncbi request reprint Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene
    C Windpassinger
    Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
    Cytogenet Genome Res 97:155-7. 2002
  10. ncbi request reprint Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome
    E Petek
    Institute of Medical Biology and Human Genetics, Karl Franzens University of Graz, Austria
    Genet Couns 14:239-44. 2003

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Phenotype of five patients with Greig syndrome and microdeletion of 7p13
    P M Kroisel
    Institute of Medical Biology and Human Genetics, Graz, Austria
    Am J Med Genet 102:243-9. 2001
    ..Our observations suggest that in all cases of atypical GCPS, the presence of a cytogenetically detectable microdeletion or a submicroscopic deletion of 7p13 should be suspected...
  2. ncbi request reprint Candidate region for Gilles de la Tourette syndrome at 7q31
    P M Kroisel
    Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
    Am J Med Genet 101:259-61. 2001
    ..Together, these cases provide evidence that a gene located in the breakpoint region at 7q31 can be involved in the formation of GTS...
  3. ncbi request reprint Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype
    M Mach
    Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz, Austria
    Genet Couns 18:9-16. 2007
    ..We were able to demonstrate an unbalanced translocation that the patient inherited from his father resulting in a submicroscopic monosomy 16p13.3 and a trisomy 2p24.2-pter...
  4. ncbi request reprint Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome
    W Emberger
    Institute of Medical Biology and Human Genetics, University of Graz, Harrachgasse 21 8, A 8010 Graz, Austria
    Am J Med Genet 104:312-8. 2001
    ....
  5. ncbi request reprint Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development
    T Schwarzbraun
    Institute of Medical Biology and Human Genetics, Medical University Graz, Austria
    Cytogenet Genome Res 115:84-9. 2006
    ..Our investigations resulted in the following karyotype: 46,XY,t(2;12)(2pter-->2p25.3::2p23.3-->2p25.2::2p23.3-->2p14::2q14.3-->2p14::2q14.3-->2q14.3::12q 12-->12qter;12pter-->12q12::2p25.3-->2p25.2::2q14.3-->2qter)...
  6. ncbi request reprint Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH
    E Petek
    Institute of Medical Biology and Human Genetics, University of Graz, Austria
    Clin Dysmorphol 9:55-7. 2000
    ..Clinical features of this 9-year-old patient such as mental and motor retardation, microcephaly, microphthalmia and hypogenitalism are compared with other cases showing this rare chromosomal aberration...
  7. pmc Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome
    E Petek
    University of Graz, Institute for Medical Biology and Human Genetics, Graz, Austria
    Am J Hum Genet 68:848-58. 2001
    ..The 7q31 breakpoint interval has also been implicated in other neuropsychiatric diseases that demonstrate some clinical overlap with GTS, including autism and speech-language disorder...
  8. ncbi request reprint Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping
    W Emberger
    Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
    Cytogenet Cell Genet 89:281-2. 2000
  9. ncbi request reprint Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene
    C Windpassinger
    Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
    Cytogenet Genome Res 97:155-7. 2002
    ..AC112166). The genomic structure of the human LAT gene consists of 11 exons, encompassing 5.7 kb. Alternative splicing variants were identified...
  10. ncbi request reprint Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome
    E Petek
    Institute of Medical Biology and Human Genetics, Karl Franzens University of Graz, Austria
    Genet Couns 14:239-44. 2003
    ..This study supports evidence for an apparently pure form of trisomy 18 in this "long-living" patient with Edwards syndrome...
  11. ncbi request reprint Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes
    K Wagner
    Institute of Medical Biology and Human Genetics, University of Graz, Austria
    Genomics 8:487-91. 1990
    ..2; Hox 1.4 and IFNB2 distal to 7p14.2. Our results suggest a location of the TCRG gene more proximal than that reported previously. Furthermore, we were able to exclude the Hox 1.4 gene from involvement in the pathogenesis of GCPS...
  12. ncbi request reprint Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment
    C Windpassinger
    Institute of Medical Biology and Human Genetics, and University Clinic for Ophthalmology, University of Graz, Austria
    Clin Genet 63:297-302. 2003
    ..These results provide evidence that haploinsufficiency for genes in 15q13-q14, not affected in common PWS deletions, is associated with the additional features found in the patient, including a central visual impairment...
  13. ncbi request reprint Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11)
    W Emberger
    Institute of Medical Biology and Human Genetics, University of Graz, Harrochgasse 21 8, A 8010 Graz, Austria
    Cancer Genet Cytogenet 129:76-9. 2001
    ..With a BCR/ABL-specific probe, the known rearrangement on the derivative chromosome 22 was found. The prognostic implications as well as the relevance of the additional breakpoint region 10q22 are discussed...
  14. ncbi request reprint Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation
    E Petek
    Institute of Medical Biology and Human Genetics, University of Graz, Austria
    Cytogenet Cell Genet 89:141-2. 2000
  15. ncbi request reprint Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly
    E Petek
    Institute of Medical Biology and Human Genetics, University of Graz, Austria
    Clin Genet 54:406-12. 1998
    ..From this chimeric YAC we generated a site specific probe of about 370 kb by digestion of the YAC-DNA, which will be assessed for gene alterations that could underlie HPE in this patient...
  16. doi request reprint Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)
    T Kroepfl
    Department of Paediatrics and Adolescence Medicine, Medical University Graz, Graz, Austria
    Clin Genet 73:492-5. 2008
    ..Loss of these two genes seems to be responsible for the severe mental retardation and mild facial dysmorphic features in our young patient. It might show the phenotypic picture of this specified deletion...
  17. ncbi request reprint Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
    M Tschernigg
    Institute of Medical Biology and Human Genetics, Karl Franzens University of Graz, Austria
    Genet Couns 13:29-33. 2002
    ..3 might be responsible for some of the MPS like facial features. A phenotype-genotype correlation analysis in combination with literature review was undertaken to allow a further delineation of partial trisomy 4p syndromes...
  18. ncbi request reprint Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611
    E Petek
    Institute of Medical Biology and Human Genetics, University of Graz, Austria
    Cytogenet Cell Genet 84:184-5. 1999
  19. ncbi request reprint Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13)
    M Tschernigg
    Genet Couns 13:303-7. 2002
    ..Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16...
  20. pmc Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies
    E Petek
    J Med Genet 40:e47. 2003
  21. ncbi request reprint [Psoriasis and hypogonadism in chronic blepharokeratoconjunctivitis. A case report]
    J Horwath-Winter
    Universitats Augenklinik, Auenbruggerplatz 4, 8036 Graz, Osterreich
    Ophthalmologe 99:380-3. 2002
    ..Ocular symptoms occur in approximately 10% of patients with psoriasis vulgaris...
  22. ncbi request reprint Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
    C Constantinou Deltas
    The Cyprus Institute of Neurology and Genetics, Nicosia
    Cytogenet Cell Genet 75:230-3. 1996
    ..We isolated a 65-kb clone that was used for localizing this gene on chromosome 19q13.2 by fluorescence in situ hybridization...
  23. ncbi request reprint Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease
    S Kumar-Singh
    Laboratory of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Universiteitsplein 1, B 2610, Antwerpen, Belgium
    Hum Mol Genet 9:2589-98. 2000
    ..Importantly, inhibiting secretion of full-length A beta(42 )by therapeutic targeting of APP processing should not result in secretion of an equally toxic N-truncated A beta(42)...
  24. pmc 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
    E Petek
    J Med Genet 40:520-5. 2003
  25. ncbi request reprint Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis
    J Löffler
    Institut fur Medizinische Biologie und Humangenetik, Universitat Innsbruck, Austria
    Am J Med Genet 95:174-7. 2000
    ..Furthermore, our findings suggest the usefulness of molecular studies of stored material in similarly affected cases where no material for biochemical analysis is available...