Research Topics
| P M KroiselSummaryAffiliation: University of Graz Country: Austria Publications
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Detail Information
Publications
Phenotype of five patients with Greig syndrome and microdeletion of 7p13P 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...- Candidate region for Gilles de la Tourette syndrome at 7q31P 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... - Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotypeM 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... - Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndromeW 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.... - Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech developmentT 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)... - Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISHE 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... 
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndromeE 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...- Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mappingW Emberger
Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria
Cytogenet Cell Genet 89:281-2. 2000 - Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) geneC 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... - Characterisation of a 19-year-old "long-term survivor" with Edwards syndromeE 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... - Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genesK 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... - Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairmentC 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... - 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... - Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisationE Petek
Institute of Medical Biology and Human Genetics, University of Graz, Austria
Cytogenet Cell Genet 89:141-2. 2000 - Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephalyE 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... 
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...- Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical regionM 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... - Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611E Petek
Institute of Medical Biology and Human Genetics, University of Graz, Austria
Cytogenet Cell Genet 84:184-5. 1999 - 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... - Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomaliesE Petek
J Med Genet 40:e47. 2003 - [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... - Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing geneC 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... - 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 diseaseS 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)... - 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 manifestationsE Petek
J Med Genet 40:520-5. 2003 - Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosisJ 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...