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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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