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Wagner Klaus |

** = Publikationen gelistet in SCI/SSCI/Pubmed

2024

Abstract (Zeitschrift)

** Blatterer, J; Hammer, S; Bierbaumer, S; Husic, R; Schmid, J; Schreiner, E; Tichy, H; Wagner, K; Verheyen, S The zebra among horses - COPA syndrome as a potentially underdiagnosed autoimmune disorder
EUR J HUM GENET. 2024; 32: 1035-1035. [Poster]
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** Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, W; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
EUR J HUM GENET. 2024; 32: 408-408.-56th Annual Conference of the European-Society-of-Human-Genetics (ESHG); JUN 10-13, 2023; Glasgow, SCOTLAND.
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** Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Kuehberger, S; Tichy, H; Wagner, K; Verheyen, S Phenotype expansion of SAMD9L-associated Ataxia-Pancytopenia Syndrome
EUR J HUM GENET. 2024; 32: 1039-1040. [Poster]
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2023

Originalarbeit (Zeitschrift)

** Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, WF; Malli, R; Petek, E; Wagner, K; Al, Kaissi, A; Khan, MA; Windpassinger, C Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Clin Genet. 2023; 104(4):491-496 Doi: 10.1111/cge.14381
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2022

Originalarbeit (Zeitschrift)

** Muzammal, M; Ali, MZ; Brugger, B; Blatterer, J; Ahmad, S; Taj, S; Shah, SK; Khan, S; Enzinger, C; Petek, E; Wagner, K; Khan, MA; Windpassinger, C A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis. 2022; 37(1):243-252 Doi: 10.1007/s11011-021-00832-2 [OPEN ACCESS]
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** Schaflinger, E; Blatterer, J; Khan, AS; Kaufmann, L; Auinger, L; Tatrai, B; Abbasi, SW; Zeeshan, Ali, M; Abbasi, AA; Al, Kaissi, A; Petek, E; Wagner, K; Ahmad, Khan, M; Windpassinger, C An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene. 2022; 833: 146582 Doi: 10.1016/j.gene.2022.146582
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Abstract (Zeitschrift)

** Kaufmann, L; Blatterer, J; Schaflinger, E; Khan, AS; Auinger, L; Tatrai, B; Abbasi, SW; Ali, MZ; Abbasi, AA; Al Kaissi, A; Wagner, K; Khan, MA; Windpassinger, C An exceptional biallelic N-terminal frameshift mutation in ZMPSTE24 leads to non-lethal progeria due to utilization of a downstream alternative start codon
EUR J HUM GENET. 2022; 30(SUPPL 1):182-182. [Oral Communication]
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2020

Abstract (Zeitschrift)

** Gocmen, SU; Wagner, K; Gokce, S Cystic Fibrosis Transmembrane Conductance Regulator Gene Variations in Coding and Noncoding Regions in Congenital Bilateral Absence of the Vas Deferens Dependent Infertility.
BIOPHYS J. 2020; 118(3):588A-588A.-64th Annual Meeting of the Biophysical-Society; FEB 15-19, 2020; San Diego, CA. [Poster]
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2019

Abstract (Zeitschrift)

** Khan, MA; Blatterer, J; Ali, MZ; Baufeld, L; Petek, E; Wagner, K; Ramadani-Muja, J; Malli, R; Muzammal, M; Windpassinger, C Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disability
EUR J HUM GENET. 2019; 27: 1463-1463. [Poster]
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2018

Originalarbeit (Zeitschrift)

** Finsterer, J; Stöllberger, C; Freudenthaler, B; Simoni, D; Höftberger, R; Wagner, K Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29.
INTRACTABLE RARE DIS. 2018; 7(2): 120-125. Doi: 10.5582/irdr.2018.01003 [OPEN ACCESS]
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2017

Kurzbericht/Letter

** Kroisel, PM; Häusler, M; Klaritsch, P; Karpf, E; Zebedin, D; Tiran, B; Pertl, B; Wagner, K Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound.
Lancet. 2017; 389(10081): 1857-1858. Doi: 10.1016/S0140-6736(17)31049-8 (- Case Report)
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2013

Originalarbeit (Zeitschrift)

** Tea, MK; Weghofer, A; Wagner, K; Singer, CF Association of BRCA1/2 mutations with FMR1 genotypes: effects on menarcheal and menopausal age.
Maturitas. 2013; 75(2):148-151 Doi: 10.1016/j.maturitas.2013.03.002
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2012

Originalarbeit (Zeitschrift)

** Weghofer, A; Tea, MK; Barad, DH; Kim, A; Singer, CF; Wagner, K; Gleicher, N BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
PLoS One. 2012; 7(9):e44753-e44753 Doi: 10.1371/journal.pone.0044753 [OPEN ACCESS]
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2011

Originalarbeit (Zeitschrift)

** Poparic, I; Schreibmayer, W; Schoser, B; Desoye, G; Gorischek, A; Miedl, H; Hochmeister, S; Binder, J; Quasthoff, S; Wagner, K; Windpassinger, C; Malle, E Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).
PLOS ONE. 2011; 6(10): e26524-e26524. Doi: 10.1371/journal.pone.0026524 [OPEN ACCESS]
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2009

Originalarbeit (Zeitschrift)

** Vincent, JB; Noor, A; Windpassinger, C; Gianakopoulos, PJ; Schwarzbraun, T; Alfred, SE; Stachowiak, B; Scherer, SW; Roberts, W; Wagner, K; Kroisel, PM; Petek, E 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.
Am J Med Genet B Neuropsychiatr Genet. 2009; 150B(6):817-826 Doi: 10.1002/ajmg.b.30903
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Kurzbericht/Letter

** Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. Doi: 10.1136/jmg.2008.064972 (- Case Report) [OPEN ACCESS]
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2008

Originalarbeit (Zeitschrift)

** 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 An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Am J Hum Genet. 2008; 82(1): 88-99. Doi: 10.1016/j.ajhg.2007.09.004 [OPEN ACCESS]
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2007

Originalarbeit (Zeitschrift)

** Mach, M; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
GENET COUNSEL. 2007; 18(1): 9-16. (- Case Report)
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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; Vincent, JB Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Mol Genet Genomics. 2007; 277(1):71-81 Doi: 10.1007/s00438-006-0173-1
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** Schwarzbraun, T; Ofner, L; Gillessen-Kaesbach, G; Schaperdoth, B; Preisegger, KH; Windpassinger, C; Wagner, K; Petek, E; Kroisel, PM A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Am J Med Genet A. 2007; 143(6): 619-624. Doi: 10.1002/ajmg.a.31627 (- Case Report)
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** 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) [OPEN ACCESS]
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Abstract (Zeitschrift)

** Auer-Grumbach, M; Fischer, C; Duong, N; Huebner, A; John, E; Wagner, K; Speicher, M; Wehnert, M LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?
NEUROMUSCULAR DISORD. 2007; 17(9-10):799-799. Doi: 10.1016/j.nmd.2007.06.129 [Poster]
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2006

Originalarbeit (Zeitschrift)

** Lundin, C; Nordström, R; Wagner, K; Windpassinger, C; Andersson, H; von Heijne, G; Nilsson, I Membrane topology of the human seipin protein.
FEBS Lett. 2006; 580(9):2281-2284 Doi: 10.1016/j.febslet.2006.03.040 [OPEN ACCESS]
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** Ofner, L; Raedle, J; Windpassinger, C; Schwarzbraun, T; Kroisel, PM; Wagner, K; Petek, E Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
J HUM GENET. 2006; 51(2): 141-146. Doi: 10.1007/s10038-005-0333-x [OPEN ACCESS]
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** Schwarzbraun, T; Ullmann, R; Schubert, M; Ledinegg, M; Ofner, L; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res. 2006; 115(1):84-89 Doi: 10.1159/000094804 (- Case Report)
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** Schwarzbraun, T; Windpassinger, C; Ofner, L; Vincent, JB; Cheung, J; Scherer, SW; Wagner, K; Kroisel, PM; Petek, E Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
EUR J MED GENET. 2006; 49(4): 338-345. Doi: 10.1016/j.ejmg.2005.10.133
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2005

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Schlotter-Weigel, B; Lochmüller, H; Strobl-Wildemann, G; Auer-Grumbach, P; Fischer, R; Offenbacher, H; Zwick, EB; Robl, T; Hartl, G; Hartung, HP; Wagner, K; Windpassinger, C; Austrian Peripheral Neuropathy Study Group Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Ann Neurol. 2005; 57(3):415-424 Doi: 10.1002/ana.20410
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** Uzun, S; Gökçe, S; Wagner, K Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens.
TOHOKU J EXP MED. 2005; 207(4): 279-285. Doi: 10.1620/tjem.207.279 [OPEN ACCESS]
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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.
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2004

Originalarbeit (Zeitschrift)

** Bache, I; Assche, EV; Cingoz, S; Bugge, M; Tümer, Z; Hjorth, M; Lundsteen, C; Lespinasse, J; Winther, K; Niebuhr, A; Kalscheuer, V; Liebaers, I; Bonduelle, M; Tournaye, H; Ayuso, C; Barbi, G; Blennow, E; Bourrouillou, G; Brondum-Nielsen, K; Bruun-Petersen, G; Croquette, MF; Dahoun, S; Dallapiccola, B; Davison, V; Delobel, B; Duba, HC; Duprez, L; Ferguson-Smith, M; Fitzpatrick, DR; Grace, E; Hansmann, I; Hultén, M; Jensen, PK; Jonveaux, P; Kristoffersson, U; Lopez-Pajares, I; McGowan-Jordan, J; Murken, J; Orera, M; Parkin, T; Passarge, E; Ramos, C; Rasmussen, K; Schempp, W; Schubert, R; Schwinger, E; Shabtai, F; Smith, K; Stallings, R; Stefanova, M; Tranebjerg, L; Turleau, C; van der Hagen, CB; Vekemans, M; Vokac, NK; Wagner, K; Wahlstroem, J; Zelante, L; Tommerup, N An excess of chromosome 1 breakpoints in male infertility.
Eur J Hum Genet. 2004; 12(12): 993-1000. Doi: 10.1038/sj.ejhg.5201263 [OPEN ACCESS]
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** Chen, YZ; Bennett, CL; Huynh, HM; Blair, IP; Puls, I; Irobi, J; Dierick, I; Abel, A; Kennerson, ML; Rabin, BA; Nicholson, GA; Auer-Grumbach, M; Wagner, K; De Jonghe, P; Griffin, JW; Fischbeck, KH; Timmerman, V; Cornblath, DR; Chance, PF DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Am J Hum Genet. 2004; 74(6):1128-1135 Doi: 10.1086/421054 [OPEN ACCESS]
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** Evgrafov, OV; Mersiyanova, I; Irobi, J; Van Den Bosch, L; Dierick, I; Leung, CL; Schagina, O; Verpoorten, N; Van Impe, K; Fedotov, V; Dadali, E; Auer-Grumbach, M; Windpassinger, C; Wagner, K; Mitrovic, Z; Hilton-Jones, D; Talbot, K; Martin, JJ; Vasserman, N; Tverskaya, S; Polyakov, A; Liem, RK; Gettemans, J; Robberecht, W; De Jonghe, P; Timmerman, V Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet. 2004; 36(6):602-606 Doi: 10.1038/ng1354 [OPEN ACCESS]
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** Irobi, J; Van den Bergh, P; Merlini, L; Verellen, C; Van Maldergem, L; Dierick, I; Verpoorten, N; Jordanova, A; Windpassinger, C; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
BRAIN. 2004; 127(Pt 9): 2124-2130. Doi: 10.1093/brain/awh232 [OPEN ACCESS]
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** Schwarzbraun, T; Vincent, JB; Schumacher, A; Geschwind, DH; Oliveira, J; Windpassinger, C; Ofner, L; Ledinegg, MK; Kroisel, PM; Wagner, K; Petek, E Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Genomics. 2004; 84(3):577-586 Doi: 10.1016/j.ygeno.2004.04.013
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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; De Jonghe, P; Timmerman, V; Crosby, AH; Wagner, K Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nat Genet. 2004; 36(3):271-276 Doi: 10.1038/ng1313 [OPEN ACCESS]
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Kurzbericht/Letter

** Kroisel, PM; Windpassinger, C; Wagner, K; Petek, E; Vincent, JB; Scherer, SW; Spiel, G; Artner, V; Valtiner, E De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.
AM J MED GENET PART A. 2004; 129A(1): 98-100. Doi: 10.1002/ajmg.a.30150 (- Case Report)
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2003

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Strasser-Fuchs, S; Robl, T; Windpassinger, C; Wagner, K Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology. 2003; 61(10):1435-1437 Doi: 10.1212/01.WNL.0000094197.46109.75 (- Case Report)
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** Petek, E; Pertl, B; Tschernigg, M; Bauer, M; Mayr, J; Wagner, K; Kroisel, PM Characterisation of a 19-year-old long-term survivor with Edwards syndrome.
Genet Couns. 2003; 14(2):239-244 (- Case Report)
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** Petek, E; Windpassinger, C; Mach, M; Rauter, L; Scherer, SW; Wagner, K; Kroisel, PM Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
AM J MED GENET PART A. 2003; 117A(2): 122-126. Doi: 10.1002/ajmg.a.10155 (- Case Report)
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** Petek, E; Windpassinger, C; Simma, B; Mueller, T; Wagner, K; Kroisel, PM Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
J Hum Genet. 2003; 48(6):283-287 Doi: 10.1007/s10038-003-0023-5 (- Case Report) [OPEN ACCESS]
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** Proukakis, C; Auer-Grumbach, M; Wagner, K; Wilkinson, PA; Reid, E; Patton, MA; Warner, TT; Crosby, AH Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Hum Mutat. 2003; 21(2): 170-170. Doi: 10.1002/humu.9108 [OPEN ACCESS]
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** Verhoeven, K; De Jonghe, P; Coen, K; Verpoorten, N; Auer-Grumbach, M; Kwon, JM; FitzPatrick, D; Schmedding, E; De Vriendt, E; Jacobs, A; Van Gerwen, V; Wagner, K; Hartung, HP; Timmerman, V Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
Am J Hum Genet. 2003; 72(3):722-727 Doi: 10.1086/367847 [OPEN ACCESS]
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** Windpassinger, C; Petek, E; Wagner, K; Langmann, A; Buiting, K; Kroisel, PM Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment.
CLIN GENET. 2003; 63(4): 297-302. Doi: 10.1034/j.1399-0004.2003.00059.x (- Case Report)
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** Windpassinger, C; Wagner, K; Petek, E; Fischer, R; Auer-Grumbach, M Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
HUM GENET. 2003; 114(1): 99-109. Doi: 10.1007/s00439-003-1021-6
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Kurzbericht/Letter

** Petek, E; Jenne, DE; Smolle, J; Binder, B; Lasinger, W; Windpassinger, C; Wagner, K; Kroisel, PM; Kehrer-Sawatzki, H 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.
J Med Genet. 2003; 40(7):520-525 Doi: 10.1136/jmg.40.7.520 (- Case Report) [OPEN ACCESS]
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** Petek, E; Plecko-Startinig, B; Windpassinger, C; Egger, H; Wagner, K; Kroisel, PM Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
J Med Genet. 2003; 40(4):e47-e47 Doi: 10.1136/jmg.40.4.e47 (- Case Report) [OPEN ACCESS]
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Übersichtsarbeit

** Auer-Grumbach, M; De Jonghe, P; Verhoeven, K; Timmerman, V; Wagner, K; Hartung, HP; Nicholson, GA Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.
Arch Neurol. 2003; 60(3):329-334 Doi: 10.1001/archneur.60.3.329 [OPEN ACCESS]
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Abstract (Zeitschrift)

** Proukakis, C; Crosby, AH; Auer-Grumbach, M; Wagner, K; Reid, E; Patton, MA; Warner, TT Screening of the spastin gene in autosomal dominant hereditary spastic paraplegia reveals seven novel mutations
J NEUROL NEUROSURG PSYCHIAT 2003 74: 406-407.
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2002

Originalarbeit (Zeitschrift)

** Dawkins, JL; Brahmbhatt, S; Auer-Grumbach, M; Wagner, K; Hartung, HP; Verhoeven, K; Timmerman, V; De Jonghe, P; Kennerson, M; LeGuern, E; Nicholson, GA Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Neuromuscul Disord. 2002; 12(7-8):656-658 Doi: 10.1016%2FS0960-8966%2802%2900015-9
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** De Jonghe, P; Auer-Grumbach, M; Irobi, J; Wagner, K; Plecko, B; Kennerson, M; Zhu, D; De Vriendt, E; Van Gerwen, V; Nicholson, G; Hartung, HP; Timmerman, V Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
Brain. 2002; 125(Pt 6):1320-1325 Doi: 10.1093/brain/awf127 [OPEN ACCESS]
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** Tschernigg, M; Petek, E; Leonhardtsberger, A; Wagner, K; Kroisel, PM Terminal tandem duplication of 16p: a case with pure partial trisomy (16)(pter-->p13).
Genet Couns. 2002; 13(3):303-307 (- Case Report)
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** Tschernigg, M; Petek, E; Wagner, K; Kroisel, PM Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.
Genet Couns. 2002; 13(1):29-33 (- Case Report)
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** Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.
Cytogenet Genome Res. 2002; 97(3-4):155-157 Doi: 10.1159/000066598
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** Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.
Gene. 2002; 292(1-2):25-31 Doi: 10.1016/S0378-1119(02)00649-2
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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)

** Devolder-Irobi, JI; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Plecko, B; Wagner, K; Kennerson, M; Nicholson, G; Zhu, D; Hartung, HP; Timmerman, V; De-Jonghe, P Autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) and distal hereditary motor neuropathy (distal HMN) with pyramidal tract signs
EUR J HUMAN GENET 2002 10: 214-215.
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** 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.
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** 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.
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** Petek, E; Windpassinger, C; Scherer, SW; Wagner, K; Kroisel, PM Molecular genetic delineation of de novo 7p11-p14 deletions in Greig syndrome
EUR J HUMAN GENET 2002 10: 121-121.
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** Ruiz-Casares, E; Tumer, Z; Bugge, M; Henriques-Gil, N; Rodriguez, L; Lopez, F; Kroisel, P; Wagner, K; Lundsteen, C; Kalscheuer, V; Tommerup, N Mapping of chromosomal breakpoints associated with orofacial clefts.
EUR J HUMAN GENET 2002 10: 161-162.
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** Sodia, S; Emberger, W; Rauter, L; Petek, E; Zierler, H; Wagner, K; Kroisel, PM Constitutional mosaicism for a partial trisomy 8 in a patient with a Chromosome Breakage Syndrome
EUR J HUMAN GENET 2002 10: 130-130.
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** Timmerman, V; Verhoeven, K; Coen, K; Verpoorten, N; Auer-Grumbach, M; Kwon, JM; FitzPatrick, D; De Vriendt, E; Jacobs, A; Van Gerwen, V; Wagner, K; Hartung, HP; De Jonghe, P Mutations in the small GTPase late endosomal protein RAB7 are associated with Charcot-Marie-Tooth type 2B neuropathy.
AMER J HUM GENET 2002 71: 544-544.
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** Windpassinger, C; Wagner, K; Scherer, SW; Kroisel, PM; Petek, E Refined molecular characterisation of a de novo t(5;18)(q33;q12) associated with Rett-like syndrome and autism
EUR J HUMAN GENET 2002 10: 219-220.
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2001

Originalarbeit (Zeitschrift)

** El-Maarri, O; Buiting, K; Peery, EG; Kroisel, PM; Balaban, B; Wagner, K; Urman, B; Heyd, J; Lich, C; Brannan, CI; Walter, J; Horsthemke, B Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
Nat Genet. 2001; 27(3):341-344 Doi: 10.1038/85927
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** Emberger, W; Behmel, A; Tschernigg, M; Seewann, HL; Petek, E; Kroisel, PM; Wagner, K Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11).
Cancer Genet Cytogenet. 2001; 129(1):76-79 Doi: 10.1016/S0165-4608(01)00417-4 (- Case Report)
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** Kroisel, PM; Petek, E; Emberger, W; Windpassinger, C; Wladika, W; Wagner, K Candidate region for Gilles de la Tourette syndrome at 7q31.
Am J Med Genet. 2001; 101(3):259-261 Doi: 10.1002/1096-8628(20010701)101:3<259::AID-AJMG1374>3.0.CO;2-# (- Case Report)
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** Kroisel, PM; Petek, E; Wagner, K Phenotype of five patients with Greig syndrome and microdeletion of 7p13.
Am J Med Genet. 2001; 102(3):243-249 Doi: 10.1002/ajmg.1443 (- Case Report)
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** Petek, E; Windpassinger, C; Vincent, JB; Cheung, J; Boright, AP; Scherer, SW; Kroisel, PM; Wagner, K Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Am J Hum Genet. 2001; 68(4):848-858 Doi: 10.1086/319523 (- Case Report) [OPEN ACCESS]
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Kurzbericht/Letter

** Petek, E; Köstl, G; Rauter, L; Mutz, I; Wagner, K; Kroisel, PM Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter).
Clin Dysmorphol. 2001; 10(2):151-153 Doi: 10.1097/00019605-200104000-00015 (- Case Report)
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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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Abstract (Zeitschrift)

** Kroisel, PM; Wagner, K; Kolozsvari, D; Windpassinger, C; Scherer, SW; Petek, E Identification of disease causing genes in 7p11-p14 deleted in patients with Greig syndrome and additional clinical features.
AMER J HUM GENET 2001 69: 285-285.
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2000

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; De Jonghe, P; Wagner, K; Verhoeven, K; Hartung, HP; Timmerman, V Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
Neurology. 2000; 55(10):1552-1557 Doi: 10.1212/WNL.55.10.1552
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** Auer-Grumbach, M; Löscher, WN; Wagner, K; Petek, E; Körner, E; Offenbacher, H; Hartung, HP Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Brain. 2000; 123 ( Pt 8)(8):1612-1623 Doi: 10.1093%2Fbrain%2F123.8.1612 [OPEN ACCESS]
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** Auer-Grumbach, M; Wagner, K; Strasser-Fuchs, S; Löscher, WN; Fazekas, F; Millner, M; Hartung, HP Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
Muscle Nerve. 2000; 23(8):1243-1249 Doi: 10.1002%2F1097-4598%28200008%2923%3A8%3C1243%3A%3AAID-MUS13%3E3.0.CO%3B2-Z (- Case Report)
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** Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P; Hartung, HP Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.
Neurology. 2000; 54(1):45-52 Doi: 10.1212/WNL.54.1.45
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** Buiting, K; Färber, C; Kroisel, P; Wagner, K; Brueton, L; Robertson, ME; Lich, C; Horsthemke, B Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Clin Genet. 2000; 58(4):284-290 Doi: 10.1034/j.1399-0004.2000.580406.x
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** Dörk, T; Macek, M; Mekus, F; Tümmler, B; Tzountzouris, J; Casals, T; Krebsová, A; Koudová, M; Sakmaryová, I; Macek, M; Vávrová, V; Zemková, D; Ginter, E; Petrova, NV; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zékanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, HH; Neumann, T; Jakubiczka, S Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Hum Genet. 2000; 106(3):259-268 Doi: 10.1007%2Fs004390000246
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** Emberger, W; Windpassinger, C; Petek, E; Kroisel, PM; Wagner, K Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.
Cytogenet Cell Genet. 2000; 89(3-4):281-282 Doi: 10.1159/000015636
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** Petek, E; Köstl, G; Mutz, I; Wagner, K; Kroisel, PM Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.
Clin Dysmorphol. 2000; 9(1):55-57 Doi: 10.1097/00019605-200009010-00011 (- Case Report)
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** Petek, E; Wagner, K; Steiner, H; Schaffer, H; Kroisel, PM Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.
Prenat Diagn. 2000; 20(4):349-352 Doi: 10.1002/(SICI)1097-0223(200004)20:4<349::AID-PD808>3.0.CO;2-B (- Case Report)
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** Petek, E; Windpassinger, C; Egger, H; Kroisel, PM; Wagner, K Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation.
Cytogenet Cell Genet. 2000; 89(3-4):141-142 Doi: 10.1159/000015594
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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) [OPEN ACCESS]
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** Kroisel, PM; Petek, E; Wagner, K; Kurnik, P Complex chromosomal translocation in a patient with Kallmann syndrome.
Am J Med Genet. 2000; 91(3):240-240 Doi: 10.1002/(SICI)1096-8628(20000320)91:3<240::AID-AJMG18>3.0.CO;2-P (- Case Report)
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Abstract (Zeitschrift)

** Verhoeven, K; De Vriendt, E; De Jonghe, P; Auer-Grumbach, M; Kwon, J; Wagner, K; Hartung, HP; Timmerman, V Ulcero-mutilating peripheral neuropathies: genetic linkage study and mutation analysis of candidate genes.
AMER J HUM GENET 2000 67: 325-325.
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Kommentar

** Kroisel, PM; Petek, E; Wagner, K Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q.
J Med Genet. 2000; 37(9):723-725 Doi: 10.1136/jmg.37.9.723 (- Case Report) [OPEN ACCESS]
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1999

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Wagner, K; Payer, F; Hartung, HP Proximal Charcot-Marie-Tooth syndrome with duplication on chromosome 17p11.2.
Ann N Y Acad Sci. 1999; 883(1):469-471 Doi: 10.1111/j.1749-6632.1999.tb08613.x (- Case Report)
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** Petek, E; Emberger, W; Kroisel, PM; Wagner, K Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611.
Cytogenet Cell Genet. 1999; 84(3-4):184-185 Doi: 10.1159/000015252
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** 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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Übersichtsarbeit

** Auer-Grumbach, M; Wagner, K; Fazekas, F; Löscher, WN; Strasser-Fuchs, S; Hartung, HP Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation
Nervenarzt. 1999; 70(12):1052-1061 Doi: 10.1007/s001150050539
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Abstract (Zeitschrift)

** Emberger, W; Petek, E; Kroisel, PM; Trojovsky, A; Zierler, H; Wagner, K Phenotype correlation of two patients with partial trisomy 1(q41-qter) combined with partial monosomy 8(p23.3-pter) respectively partial monosomy 5(p13.3-pter)
CYTOGENET CELL GENET 1999 85: 147-147.
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** Petek, E; Holinski-Feder, E; Reyniers, E; Schoepen, I; Meitinger, T; Kooy, RF; Zierler, H; Wagner, K; Kroisel, P Familial cryptic reciprocal translocation leading to a high incidence of unbalanced telomeric partial trisomy and monosomy
CYTOGENET CELL GENET 1999 85: 161-161.
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** Trojovsky, A; Zierler, H; Häusler, M; Emberger, W; Kroisel, PM; Wagner, K Chromosomal abnormalities found in prenatal diagnosis
CYTOGENET CELL GENET 1999 85: 60-60.
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Kommentar

** Zalaudek, I; Bonelli, RM; Költringer, P; Reisecker, F; Wagner, K Early diagnosis in Duchenne muscular dystrophy.
Lancet. 1999; 353(9168):1975-1975 Doi: 10.1016/S0140-6736(05)77190-7
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1998

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Strasser-Fuchs, S; Wagner, K; Körner, E; Fazekas, F Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
J Neurol Sci. 1998; 154(1):72-75 Doi: 10.1016/S0022-510X(97)00218-9 (- Case Report)
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** Petek, E; Kroisel, PM; Wagner, K Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly.
Clin Genet. 1998; 54(5):406-412 Doi: 10.1111/j.1399-0004.1998.tb03754.x (- Case Report)
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1997

Originalarbeit (Zeitschrift)

** Petek, E; Kroisel, PM; Wagner, K Isolation of site-specific insert probes from chimeric YACs.
Biotechniques. 1997; 23(1):72 ,74, 77-72 ,74, 77 Doi: 10.2144/97231bm15 [OPEN ACCESS]
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1996

Originalarbeit (Zeitschrift)

** Auer-Grumbach, M; Wagner, K; Strasser-Fuchs, S; Millner, M; Fazekas, F Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family
Nervenarzt. 1996; 67(2):155-159
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1995

Originalarbeit (Zeitschrift)

** Greil, I; Wagner, K; Eber, E; Zach, M; Rosenkranz, W Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.
WIEN KLIN WOCHENSCHR 1995 107: 464-469.
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Kurzbericht/Letter

** DEVOTO, M; ROMEO, G; TENKATE, LP; CHEVALIER, F; BOZON, D; ESTIVILL, X; CASALS, T; ABELIOVICH, D; LERER, I; PADOAN, R; SEIA, M; HILL, A; LIECHTIGALLATI, S; KRAMER, R; BEARDS, F; DEAR, S; DALLAPICCOLA, B; SANGIUOLO, F; MACEK, M; MACEK, M; MCMAHON, R; CONNARTY, M; HARVEY, JF; CLAUSTRES, M; DESGEORGES, M; DEVRIES, R; SCHEFFER, H; CANKIKLAIN, N; AUDREZET, MP; BIENVENU, T; CHOMEL, JC; DZIADEK, V; TUMMLER, B; SCHWARZ, M; HAWORTH, A; BENITEZ, J; FERNANDEZ, E; MAZURCZAK, T; BAL, J; CREMONESI, L; RONCHETTO, P; CASHMAN, SM; FEREC, C; CUPPENS, H; BAUER, I; ANGELICHEVA, D; WAGNER, K; PACHECO, P; BONIZZATO, A; WITT, M; MCMAHON, CJ; RAVNIKGLAVAC, M; REIS, A; STUHRMANN, M; GARNERONE, S; CURTIS, A; GRUNING, G; KANAVAKIS, E; KLAASSEN, T; GRADE, T; The European Working Group on Cystic Fibrosis Genetics No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients. European Working Group on Cystic Fibrosis Genetics.
EUR J HUMAN GENET. 1995; 3(5): 324-325. Doi: 10.1159/000472316
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Abstract (Zeitschrift)

** WAGNER, K; KROISEL, PM; ROSENKRANZ, W PREPARATIVE IN-SITU HYBRIDIZATION (PREP-ISH) OF A CDNA LIBRARY CORRESPONDING TO SUBREGIONS OF CHROMOSOME 7P
CYTOGENET CELL GENET 1995 71: 24-24.
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Kurzbericht/Note

** Schwinger, W; Urban, C; Mache, CJ; Resch, B; Lackner, H; Höfler, G; Beham-Schmid, C; Gilli, R; Wagner, K; Haas, OA Adoptive immunotransfer with viable donor mononuclear cells for recurrent chronic myelogenous leukemia after allogeneic bone marrow transplantation in two children.
Pediatr Hematol Oncol. 1995; 12(1):47-54 Doi: 10.3109/08880019509029527 (- Case Report)
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1994

Originalarbeit (Zeitschrift)

** The Cystic Fibrosis Genetic Analysis Consortium Population variation of common cystic fibrosis mutations.
Hum Mutat. 1994; 4(3): 167-177. Doi: 10.1002/humu.1380040302
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** WAGNER, K; GREIL, I; SCHNEDITZ, P; POMMER, M; ROSENKRANZ, W A cystic fibrosis patient with delta F508, G542X and a deletion at the D7S8 locus.
HUM MUTAT. 1994; 3(3): 327-329. Doi: 10.1002/humu.1380030328 (- Case Report)
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Kurzbericht/Note

** Greil, I; Wagner, K; Rosenkranz, W A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Hum Hered. 1994; 44(4):238-240 Doi: 10.1159/000154223 (- Case Report)
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** Reisecker, F; Leblhuber, F; Lexner, R; Radner, G; Rosenkranz, W; Wagner, K A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings.
Neurology. 1994; 44(4):753-755 Doi: 10.1212/WNL.44.4.753 (- Case Report)
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** Wagner, K; Greil, I; Schneditz, P; Rosenkranz, W A new missense mutation G126D in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
HUM HERED. 1994; 44(1): 56-57. Doi: 10.1159/000154190 (- Case Report)
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1993

Kurzbericht/Note

** Greil, I; Wagner, K; Rosenkranz, W Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.
Hum Mol Genet. 1993; 2(12):2171-2172 Doi: 10.1093/hmg/2.12.2171 [OPEN ACCESS]
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1992

Originalarbeit (Zeitschrift)

** Wagner, K; Kroisel, PM; Rosenkranz, W Localization of genes and anonymous DNA probes on the short arm of chromosome 7.
Mamm Genome. 1992; 3(1):39-41 Doi: 10.1007/BF00355840
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** Wagner, K; Zach, M; Rosenkranz, W Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.
HUM GENET. 1992; 89(4): 437-438. Doi: 10.1007/BF00194318
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1991

Originalarbeit (Zeitschrift)

** Wagner, K; Kroisel, PM; Rosenkranz, W A TaqI RFLP detected by the probe TN157 (D7S145) at the human chromosome region 7p13-14.2.
NUCL ACID RES. 1991; 19(5): 1170-1170. Doi: 10.1093/nar/19.5.1170 [OPEN ACCESS]
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1990

Originalarbeit (Zeitschrift)

** Wagner, K; Kroisel, PM; Rosenkranz, W Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.
Genomics. 1990; 8(3):487-491 Doi: 10.1016/0888-7543(90)90035-S
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