Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Zierler Hannelore |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2007
Originalarbeit (Zeitschrift)
** Varon, R; Müer, A; Wagner, K; Zierler, H; Sodia, S; Rauter, L; Petek, E; Tönnies, H; Neitzel, H; Sperling, K; Kroisel, PM
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Am J Med Genet A. 2007; 143(1): 92-94.
Doi: 10.1002/ajmg.a.31540
(- Case Report)
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2005
Originalarbeit (Zeitschrift)
** Ledig, S; Jakubiczka, S; Neulen, J; Aulepp, U; Burck-Lehmann, U; Mohnike, K; Thiele, H; Zierler, H; Brewer, C; Wieacker, P
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
Horm Res. 2005; 63(6):263-269
Doi: 10.1159/000086018
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** Schuster, A; Weisschuh, N; Jägle, H; Besch, D; Janecke, AR; Zierler, H; Tippmann, S; Zrenner, E; Wissinger, B
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Br J Ophthalmol. 2005; 89(10):1258-1264
Doi: 10.1136/bjo.2004.063933
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Abstract (Zeitschrift)
** Emberger, W; Regauer, S; Sodial, S; Reich, O; Zierler, H; Wagner, K; Pfragner, R
Endometrial stromal sarcoma: cytogenetic and molecular cytogenetic analyses
EUR J CELL BIOL 2005 84: 17-17.
Web of Science
2003
Originalarbeit (Zeitschrift)
** Hennerbichler, S; Kroisel, PM; Zierler, H; Pertl, B; Wintersteiger, R; Dohr, G; Sedlmayr, P
Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry.
Prenat Diagn. 2003; 23(9):710-715
Doi: 10.1002/pd.668
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2002
Kurzbericht/Letter
** Kroisel, PM; Wagner, K; Zierler, H; Petek, E
Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection.
Prenat Diagn. 2002; 22(3):267-269
Doi: 10.1002/pd.298
(- Case Report)
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Abstract (Zeitschrift)
** Emberger, W; Olipitz, W; Sodia, S; Petek, E; Zierler, H; Kroisel, PM; Wagner, K
Blast crisis in Philadelphia negative CML: Clinical findings and molecular cytogenetic characterization of a 47,XX,+i(11)(q10) cell line.
EUR J HUMAN GENET 2002 10: 105-106.
Web of Science
** Kroisel, PM; Windpassinger, C; Zierler, H; Wagner, K; Petek, E
Constitutional microdeletion del(22)(q12.1q12.3) including the NF2 gene region.
EUR J HUMAN GENET 2002 10: 133-133.
Web of Science
2001
Übersichtsarbeit
** Emberger, W; Petek, E; Kroisel, PM; Zierler, H; Wagner, K
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.
Am J Med Genet. 2001; 104(4):312-318
Doi: 10.1002/ajmg.10096
(- Case Report)
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2000
Originalarbeit (Zeitschrift)
** Holinski-Feder, E; Reyniers, E; Uhrig, S; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, MR; Willems, PJ; Meitinger, T; Kooy, RF
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Am J Hum Genet. 2000; 66(1):16-25
Doi: 10.1086/302703
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** Plöchl, E; Vlasak, I; Rittinger, O; Bergendi, E; Stopar, M; Kurnik, P; Nachtigall, M; Zierler, H; Rappold, GA; Schiebel, K
Clinical, cytogenetic and molecular analysis of three 46,XX males.
J PEDIATR ENDOCRINOL METAB. 2000; 12(3): 389-395.
Doi: 10.1515/JPEM.1999.12.3.389
(- Case Report)
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Kurzbericht/Letter
** Emberger, W; Petek, E; Plecko-Starting, B; Kroisel, PM; Zierler, H; Wagner, K
A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity.
J Med Genet. 2000; 37(11):892-896
Doi: 10.1136/jmg.37.11.892
(- Case Report)
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1999
Originalarbeit (Zeitschrift)
** Petek, E; Kroisel, PM; Schuster, M; Zierler, H; Wagner, K
Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
Am J Med Genet. 1999; 84(3):229-232
Doi: 10.1002/(SICI)1096-8628(19990528)84:3<229::AID-AJMG13>3.3.CO;2-K
(- Case Report)
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1996
Originalarbeit (Zeitschrift)
** Häusler, MC; Berghold, A; Zierler, H; Behmel, A; Pertl, B
The triple test scenario for Styria. With data of the Styria Abnormalities Register
Gynakol Geburtshilfliche Rundsch. 1996; 36(3):169-177
Doi: 10.1159/000272647
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** Häusler, MC; Berghold, A; Zierler, H; Kainer, F
Pregnancy termination after prenatal diagnosis--data of the Styrian malformation register (1985-1992)
Wien Klin Wochenschr. 1996; 108(6):169-174
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1992
Originalarbeit (Zeitschrift)
** Hecher, K; Spernol, R; Wimmer-Hebein, D; Zierler, H; Szalay, S
Doppler ultrasound of the umbilical artery in fetuses with sonographically abnormal findings and/or chromosome abnormalities (corrected)
GEBURTSH FRAUENHEILK. 1992; 52(5): 275-282.
Doi: 10.1055/s-2007-1023748
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1991
Originalarbeit (Zeitschrift)
** Hecher, K; Zierler, H; Spernol, R; Szalay, S
Holoprosencephaly: criteria and consequences for prenatal diagnosis
ULTRASCHALL MED. 1991; 12(1): 16-21.
Doi: 10.1055/s-2007-1004040
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