Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Kroisel Peter |

** = Publikationen gelistet in SCI/SSCI/Pubmed

2022

Originalarbeit (Zeitschrift)

** Kieninger, S; Xiao, T; Weisschuh, N; Kohl, S; Rüther, K; Kroisel, PM; Brockmann, T; Knappe, S; Kellner, U; Lagrèze, W; Mazzola, P; Haack, TB; Wissinger, B; Tonagel, F DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet. 2022; Doi: 10.1136/jmedgenet-2021-108235 [OPEN ACCESS]
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** Vegas, N; Demir, Z; Gordon, CT; Breton, S; Tavares, VLR; Moisset, H; Zechi-Ceide, R; Kokitsu-Nakata, NM; Kido, Y; Marlin, S; Halem, SG; Meerschaut, I; Callewaert, B; Chung, B; Revencu, N; Lehalle, D; Petit, F; Propst, EJ; Papsin, BC; Phillips, JH; Jakobsen, L; Le Tanno, P; Thevenon, J; McGaughran, J; Gerkes, EH; Leoni, C; Kroisel, P; Tan, TY; Henderson, A; Terhal, P; Basel-Salmon, L; Alkindy, A; White, SM; Passos-Bueno, MR; Pingault, V; De Pontual, L; Amiel, J Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
HUM MUTAT. 2022; Doi: 10.1002/humu.24349
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Abstract (Zeitschrift)

** Xiao, T; Kieninger, S; Weisschuh, N; Kohl, S; Ruther, K; Kroisel, P; Brockmann, T; Knappe, S; Kellner, U; Lagreze, W; Mazzola, P; Haack, T; Wissinger, B; Tonagel, F DNAJC30 disease-causing gene variants in a large Central European cohort of patients with inherited optic atrophy
INVEST OPHTH VIS SCI. 2022; 63(7): [Poster]
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2021

Originalarbeit (Zeitschrift)

** Meyer, R; Begemann, M; Hübner, CT; Dey, D; Kuechler, A; Elgizouli, M; Schara, U; Ambrozaityte, L; Burnyte, B; Schröder, C; Kenawy, A; Kroisel, P; Demuth, S; Fekete, G; Opladen, T; Elbracht, M; Eggermann, T One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Orphanet J Rare Dis. 2021; 16(1): 42 Doi: 10.1186/s13023-021-01683-x [OPEN ACCESS]
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2020

Originalarbeit (Zeitschrift)

** Wang, H; Humbatova, A; Liu, Y; Qin, W; Lee, M; Cesarato, N; Kortüm, F; Kumar, S; Romano, MT; Dai, S; Mo, R; Sivalingam, S; Motameny, S; Wu, Y; Wang, X; Niu, X; Geng, S; Bornholdt, D; Kroisel, PM; Tadini, G; Walter, SD; Hauck, F; Girisha, KM; Calza, AM; Bottani, A; Altmüller, J; Buness, A; Yang, S; Sun, X; Ma, L; Kutsche, K; Grzeschik, KH; Betz, RC; Lin, Z Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet. 2020; 107(1):34-45 Doi: 10.1016/j.ajhg.2020.05.006 [OPEN ACCESS]
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** Wimmer, K; Schamschula, E; Wernstedt, A; Traunfellner, P; Amberger, A; Zschocke, J; Kroisel, P; Chen, Y; Callens, T; Messiaen, L AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Hum Mutat. 2020; 41(6):1145-1156 Doi: 10.1002/humu.24005 [OPEN ACCESS]
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Abstract (Zeitschrift)

** Meyer, R; Begemann, M; Hubner, C; Dey, D; Kuchler, A; Elgizouli, M; Kroisel, PM; Fekete, G; Ambrozaityte, L; Matuleviciene, A; Elbracht, M; Eggermann, T WES expands the mutational spectrum in patients with Silver-Russell syndrome features.
EUR J HUM GENET. 2020; 28(SUPPL 1):229-230. [Keynote lecture]
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2019

Fallbericht

** Rath, M; Spiegler, S; Strom, TM; Trenkler, J; Kroisel, PM; Felbor, U Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Am J Med Genet A. 2019; 179(2):295-299 Doi: 10.1002/ajmg.a.60700 (- Case Report) [OPEN ACCESS]
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2017

Originalarbeit (Zeitschrift)

** Redin, C; Brand, H; Collins, RL; Kammin, T; Mitchell, E; Hodge, JC; Hanscom, C; Pillalamarri, V; Seabra, CM; Abbott, MA; Abdul-Rahman, OA; Aberg, E; Adley, R; Alcaraz-Estrada, SL; Alkuraya, FS; An, Y; Anderson, MA; Antolik, C; Anyane-Yeboa, K; Atkin, JF; Bartell, T; Bernstein, JA; Beyer, E; Blumenthal, I; Bongers, EM; Brilstra, EH; Brown, CW; Brüggenwirth, HT; Callewaert, B; Chiang, C; Corning, K; Cox, H; Cuppen, E; Currall, BB; Cushing, T; David, D; Deardorff, MA; Dheedene, A; D'Hooghe, M; de Vries, BB; Earl, DL; Ferguson, HL; Fisher, H; FitzPatrick, DR; Gerrol, P; Giachino, D; Glessner, JT; Gliem, T; Grady, M; Graham, BH; Griffis, C; Gripp, KW; Gropman, AL; Hanson-Kahn, A; Harris, DJ; Hayden, MA; Hill, R; Hochstenbach, R; Hoffman, JD; Hopkin, RJ; Hubshman, MW; Innes, AM; Irons, M; Irving, M; Jacobsen, JC; Janssens, S; Jewett, T; Johnson, JP; Jongmans, MC; Kahler, SG; Koolen, DA; Korzelius, J; Kroisel, PM; Lacassie, Y; Lawless, W; Lemyre, E; Leppig, K; Levin, AV; Li, H; Li, H; Liao, EC; Lim, C; Lose, EJ; Lucente, D; Macera, MJ; Manavalan, P; Mandrile, G; Marcelis, CL; Margolin, L; Mason, T; Masser-Frye, D; McClellan, MW; Mendoza, CJ; Menten, B; Middelkamp, S; Mikami, LR; Moe, E; Mohammed, S; Mononen, T; Mortenson, ME; Moya, G; Nieuwint, AW; Ordulu, Z; Parkash, S; Pauker, SP; Pereira, S; Perrin, D; Phelan, K; Aguilar, RE; Poddighe, PJ; Pregno, G; Raskin, S; Reis, L; Rhead, W; Rita, D; Renkens, I; Roelens, F; Ruliera, J; Rump, P; Schilit, SL; Shaheen, R; Sparkes, R; Spiegel, E; Stevens, B; Stone, MR; Tagoe, J; Thakuria, JV; van Bon, BW; van de Kamp, J; van Der Burgt, I; van Essen, T; van Ravenswaaij-Arts, CM; van Roosmalen, MJ; Vergult, S; Volker-Touw, CM; Warburton, DP; Waterman, MJ; Wiley, S; Wilson, A; Yerena-de Vega, MC; Zori, RT; Levy, B; Brunner, HG; de Leeuw, N; Kloosterman, WP; Thorland, EC; Morton, CC; Gusella, JF; Talkowski, ME The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet. 2017; 49(1):36-45 Doi: 10.1038/ng.3720 [OPEN ACCESS]
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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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Übersichtsarbeit

** Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; Strohal, R; Ulz, P; Crumrine, D; Menon, GK; Blunder, S; Schmuth, M; Müller, T; Smith, H; Mills, K; Kroisel, P; Janecke, AR; Gissen, P Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
J Invest Dermatol. 2017; 137(4):845-854 Doi: 10.1016/j.jid.2016.12.010 [OPEN ACCESS]
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Abstract (Zeitschrift)

** Gruber, R; Rogerson, C; Windpassinger, C; Strohal, R; Schmuth, M; Kroisel, P; Janecke, AR; Gissen, P VPS33B mutations cause ARKID syndrome affecting Rab protein interaction, collagen modification and epidermal structure
J INVEST DERMATOL. .. 2017; 137(10):S223-S223.-47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR); SEP 27-30, 2017; Salzburg, AUSTRIA. Doi: 10.1016/j.jid.2017.07.174 [Poster]
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** Tommerup, N; Fonseca, AC; Mehrjouy, M; Rasmussen, MB; Bache, I; Halgren, C; Kroisel, P; Midyan, S; Vermeesch, J; Vianna-Morgante, AM; Abe, KT; Moretti-Ferreira, D; Paskulin, G; Angelova, L; Rajcan-Separovic, E; Sismani, C; Sedlacek, Z; Fagerberg, C; Brondum-Nielsen, K; Vogel, I; Bojesen, A; Ounap, K; Roht, L; Varilo, T; Luukkonen, T; Lespinasse, J; Beneteau, C; Kalscheuer, VM; Ehmke, N; Daumer-Haas, C; Stefanou, EG; Marta, C; Kosztolanyi, G; Sheth, F; Zuffardi, O; Bonaglia, C; Novelli, A; Fannemel, M; Dias, P; Kokalj-Vokac, N; Ramos-Arroyo, MA; Martinez, LR; Guitart, M; Schinzel, A; Engelen, J; Silan, F; Akkari, Y; Batanian, JR; Kim, HG; Aristidou, C; De Almeida, C; Lewis, S; Moreno-Igoa, M; Hovhannisyan, A; Jacky, P; Bak, M NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
MOL CYTOGENET. 2017; 10: -ESHG Conference ; MAY 27-30, 2017; Copenhagen, DENMARK. [Poster]
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2016

Originalarbeit (Zeitschrift)

** D'Angelo, D; Lebon, S; Chen, Q; Martin-Brevet, S; Snyder, LG; Hippolyte, L; Hanson, E; Maillard, AM; Faucett, WA; Macé, A; Pain, A; Bernier, R; Chawner, SJ; David, A; Andrieux, J; Aylward, E; Baujat, G; Caldeira, I; Conus, P; Ferrari, C; Forzano, F; Gérard, M; Goin-Kochel, RP; Grant, E; Hunter, JV; Isidor, B; Jacquette, A; Jønch, AE; Keren, B; Lacombe, D; Le Caignec, C; Martin, CL; Männik, K; Metspalu, A; Mignot, C; Mukherjee, P; Owen, MJ; Passeggeri, M; Rooryck-Thambo, C; Rosenfeld, JA; Spence, SJ; Steinman, KJ; Tjernagel, J; Van Haelst, M; Shen, Y; Draganski, B; Sherr, EH; Ledbetter, DH; van den Bree, MB; Beckmann, JS; Spiro, JE; Reymond, A; Jacquemont, S; Chung, WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry. 2016; 73(1): 20-30. Doi: 10.1001/jamapsychiatry.2015.2123 [OPEN ACCESS]
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2014

Originalarbeit (Zeitschrift)

** Spiegler, S; Najm, J; Liu, J; Gkalympoudis, S; Schröder, W; Borck, G; Brockmann, K; Elbracht, M; Fauth, C; Ferbert, A; Freudenberg, L; Grasshoff, U; Hellenbroich, Y; Henn, W; Hoffjan, S; Hüning, I; Korenke, GC; Kroisel, PM; Kunstmann, E; Mair, M; Munk-Schulenburg, S; Nikoubashman, O; Pauli, S; Rudnik-Schöneborn, S; Sudholt, I; Sure, U; Tinschert, S; Wiednig, M; Zoll, B; Ginsberg, MH; Felbor, U High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Mol Genet Genomic Med. 2014; 2(2):176-185 Doi: 10.1002/mgg3.60 [OPEN ACCESS]
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2013

Originalarbeit (Zeitschrift)

** Cullup, T; Kho, AL; Dionisi-Vici, C; Brandmeier, B; Smith, F; Urry, Z; Simpson, MA; Yau, S; Bertini, E; McClelland, V; Al-Owain, M; Koelker, S; Koerner, C; Hoffmann, GF; Wijburg, FA; ten Hoedt, AE; Rogers, RC; Manchester, D; Miyata, R; Hayashi, M; Said, E; Soler, D; Kroisel, PM; Windpassinger, C; Filloux, FM; Al-Kaabi, S; Hertecant, J; Del Campo, M; Buk, S; Bodi, I; Goebel, HH; Sewry, CA; Abbs, S; Mohammed, S; Josifova, D; Gautel, M; Jungbluth, H; Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Nat Genet. 2013; 45(1):83-87 Doi: 10.1038/ng.2497 [OPEN ACCESS]
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** Gordon, CT; Petit, F; Kroisel, PM; Jakobsen, L; Zechi-Ceide, RM; Oufadem, M; Bole-Feysot, C; Pruvost, S; Masson, C; Tores, F; Hieu, T; Nitschké, P; Lindholm, P; Pellerin, P; Guion-Almeida, ML; Kokitsu-Nakata, NM; Vendramini-Pittoli, S; Munnich, A; Lyonnet, S; Holder-Espinasse, M; Amiel, J Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet. 2013; 93(6):1118-1125 Doi: 10.1016/j.ajhg.2013.10.023 (- Case Report) [OPEN ACCESS]
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** Gordon, CT; Vuillot, A; Marlin, S; Gerkes, E; Henderson, A; AlKindy, A; Holder-Espinasse, M; Park, SS; Omarjee, A; Sanchis-Borja, M; Bdira, EB; Oufadem, M; Sikkema-Raddatz, B; Stewart, A; Palmer, R; McGowan, R; Petit, F; Delobel, B; Speicher, MR; Aurora, P; Kilner, D; Pellerin, P; Simon, M; Bonnefont, JP; Tobias, ES; García-Miñaúr, S; Bitner-Glindzicz, M; Lindholm, P; Meijer, BA; Abadie, V; Denoyelle, F; Vazquez, MP; Rotky-Fast, C; Couloigner, V; Pierrot, S; Manach, Y; Breton, S; Hendriks, YM; Munnich, A; Jakobsen, L; Kroisel, P; Lin, A; Kaban, LB; Basel-Vanagaite, L; Wilson, L; Cunningham, ML; Lyonnet, S; Amiel, J Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet. 2013; 50(3):174-186 Doi: 10.1136/jmedgenet-2012-101331
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2012

Originalarbeit (Zeitschrift)

** Gianakopoulos, PJ; Zhang, Y; Pencea, N; Orlic-Milacic, M; Mittal, K; Windpassinger, C; White, SJ; Kroisel, PM; Chow, EW; Saunders, CJ; Minassian, BA; Vincent, JB Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(2): 210-216. Doi: 10.1002/ajmg.b.32015
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** Spengler, S; Begemann, M; Ortiz Brüchle, N; Baudis, M; Denecke, B; Kroisel, PM; Oehl-Jaschkowitz, B; Schulze, B; Raabe-Meyer, G; Spaich, C; Blümel, P; Jauch, A; Moog, U; Zerres, K; Eggermann, T Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features.
J Pediatr. 2012; 161(5):933-942 Doi: 10.1016/j.jpeds.2012.04.045 [OPEN ACCESS]
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** Van Der Werf, CS; Wabbersen, TD; Hsiao, NH; Paredes, J; Etchevers, HC; Kroisel, PM; Tibboel, D; Babarit, C; Schreiber, RA; Hoffenberg, EJ; Vekemans, M; Zeder, SL; Ceccherini, I; Lyonnet, S; Ribeiro, AS; Seruca, R; Te Meerman, GJ; van Ijzendoorn, SC; Shepherd, IT; Verheij, JB; Hofstra, RM CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology. 2012; 142(3):453-462 Doi: 10.1053/j.gastro.2011.11.038
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2011

Originalarbeit (Zeitschrift)

** Beitzke, M; Enzinger, C; Windpassinger, C; Pfeifer, D; Fazekas, F; Woellner, C; Grimbacher, B; Kroisel, PM Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome.
J Neurol Sci. 2011; 309(1-2):12-15 Doi: 10.1016/j.jns.2011.07.045 (- Case Report)
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** Demuth, I; Dutrannoy, V; Marques, W; Neitzel, H; Schindler, D; Dimova, PS; Chrzanowska, KH; Bojinova, V; Gregorek, H; Graul-Neumann, LM; von Moers, A; Schulze, I; Nicke, M; Bora, E; Cankaya, T; Oláh, É; Kiss, C; Bessenyei, B; Szakszon, K; Gruber-Sedlmayr, U; Kroisel, PM; Sodia, S; Goecke, TO; Dörk, T; Digweed, M; Sperling, K; de Sá, J; Lourenco, CM; Varon, R New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics. 2011; 12(4):273-282 Doi: 10.1007/s10048-011-0299-0
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** Hurst, JA; Jenkins, D; Vasudevan, PC; Kirchhoff, M; Skovby, F; Rieubland, C; Gallati, S; Rittinger, O; Kroisel, PM; Johnson, D; Biesecker, LG; Wilkie, AO Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Eur J Hum Genet. 2011; 19(7): 757-762. Doi: 10.1038/ejhg.2011.13 [OPEN ACCESS]
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** Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BB; Esko, T; Fernandez, BA; Fernández-Aranda, F; Fernández-Real, JM; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Männik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Villatoro Gomez, S; Walha, F; Wu, BL; Yu, Y; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, JS; Elliott, P; Faas, BH; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, NV; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, FJ; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AI; Beckmann, JS; Froguel, P Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature. 2011; 478(7367):97-102 Doi: 10.1038/nature10406 [OPEN ACCESS]
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** Namavar, Y; Barth, PG; Kasher, PR; van Ruissen, F; Brockmann, K; Bernert, G; Writzl, K; Ventura, K; Cheng, EY; Ferriero, DM; Basel-Vanagaite, L; Eggens, VR; Krägeloh-Mann, I; De Meirleir, L; King, M; Graham, JM; von Moers, A; Knoers, N; Sztriha, L; Korinthenberg, R; PCH Consortium; Dobyns, WB; Baas, F; Poll-The, BT Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain. 2011; 134(Pt 1): 143-156. Doi: 10.1093/brain/awq287 [OPEN ACCESS]
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2010

Originalarbeit (Zeitschrift)

** Jakubiczka, S; Schroder, C; Ullmann, R; Volleth, M; Ledig, S; Gilberg, E; Kroisel, P; Wieacker, P Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
SEX DEV. 2010; 4(3): 143-149. Doi: 10.1159/000302403 [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)

** Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495 Doi: 10.1111/j.1399-0004.2008.00982.x
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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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** Mignon-Ravix, C; Depetris, D; Luciani, JJ; Cuoco, C; Krajewska-Walasek, M; Missirian, C; Collignon, P; Delobel, B; Croquette, MF; Moncla, A; Kroisel, PM; Mattei, MG Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Eur J Hum Genet. 2007; 15(4):432-440 Doi: 10.1038/sj.ejhg.5201775 [OPEN ACCESS]
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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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2006

Originalarbeit (Zeitschrift)

** Hörl, G; Kroisel, PM; Wagner, E; Tiran, B; Petek, E; Steyrer, E Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
Atherosclerosis. 2006; 187(1): 101-109. Doi: 10.1016/j.atherosclerosis.2005.08.038
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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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Abstract (Zeitschrift)

** Vincent, J; Marsha, C; Noor, A; Windpassinger, C; Horike, S; Choufani, S; Stachowiak, B; Skaug, J; Sloman, L; Kroisel, P; Petek, E; Roberts, W; Scherer, S Molecular analysis of 8 autism patients with cytogenetic abnormalities
AM J MED GENET PART B. 714-714. [Poster]
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2005

Originalarbeit (Zeitschrift)

** Singer, G; Schalamon, J; Ainoedhofer, H; Petek, E; Kroisel, PM; Höllwarth, ME Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
J PEDIAT SURG. 2005; 40(11): e47-e50. Doi: 10.1016/j.jpedsurg.2005.07.048 (- Case Report)
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Übersichtsarbeit

** Fabisch, H; Kroisel, PM; Fabisch, K Genetic risk factors in schizophrenia
FORTSCHR NEUROL PSYCHIAT. 2005; 73 Suppl 1(11): S44-S50. Doi: 10.1055/s-2005-870996
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2004

Originalarbeit (Zeitschrift)

** Runte, M; Kroisel, PM; Gillessen-Kaesbach, G; Varon, R; Horn, D; Cohen, MY; Wagstaff, J; Horsthemke, B; Buiting, K SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
HUM GENET. 2004; 114(6): 553-561. Doi: 10.1007/s00439-004-1104-z
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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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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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Abstract (Zeitschrift)

** Sedlmayr, P; Hennerbichler, S; Schulz, E; Petek, E; Pertl, B; Wintersteiger, R; Kroisel, P; Dohr, G Non-invasive prenatal diagnostics using slide-based cytometry
CYTOMETRY PART A 2004 60A: 200-200.
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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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** Koestenberger, M; Kroisel, PM; Lackner, H; Urban, C Simultaneous occurrence of retinoblastoma and neurofibromatosis I in a young child.
Med Pediatr Oncol. 2003; 40(2):124-125 Doi: 10.1002/mpo.10082 (- 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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** Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; Parker-Katiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HH; Pelicci, PG; Lo-Coco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GA; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJ; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC Human chromosome 7: DNA sequence and biology.
Science. 2003; 300(5620):767-772 Doi: 10.1126/science.1083423 [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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Kurzbericht/Letter

** Horsthemke, B; Lich, C; Buiting, K; Achmann, R; Aulehla-Scholz, C; Baumer, A; Bürger, J; Dworniczak, B; Gläser, D; Holinski-Feder, E; Janssen, B; Kleinle, S; Kochhan, L; Krasemann, E; Kraus, C; Kroisel, P; Plendl, H; Purmann, S; Sander, G; Skladny, H; Spitzer, E; Thamm-Mücke, B; Varon-Mateeva, R; Weinhäusel, A; Weirich, H Problems in detecting mosaic DNA methylation in Angelman syndrome.
Eur J Hum Genet. 2003; 11(12):913-915 Doi: 10.1038/sj.ejhg.5201078 [OPEN ACCESS]
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** 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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2002

Originalarbeit (Zeitschrift)

** Hennerbichler, S; Schmied, R; Petek, E; Kroisel, PM; Pertl, B; Tiran, B; Dohr, G; Wintersteiger, R; Sedlmayr, P Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry.
Cytometry. 2002; 48(2):87-92 Doi: 10.1002/cyto.10112 [OPEN ACCESS]
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** Horwath-Winter, J; Flögel, I; Ramschak-Schwarzer, S; Hofer, A; Kroisel, PM Psoriasis and hypogonadism in chronic blepharokeratoconjunctivitis. A case report
Ophthalmologe. 2002; 99(5):380-383 Doi: 10.1007/s003470100523 (- Case Report)
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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)

** 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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** Hennerbichler, S; Petek, E; Pertl, B; Dohr, G; Wintersteiger, R; Kroisel, P; Sedlmayr, P Applicability of laser scanning cytometry for detection and relocation of fetal erythroblasts in peripheral blood from pregnant women
CYTOMETRY 2002 SUPPL: 99-99.
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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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** Runte, M; Kroisel, PM; Lich, C; Horsthemke, B; Buiting, K Relative levels of the UBE3A sense transcript and the IC-SNURF-SNRPN sense/UBE3A antisense transcript in blood and brain.
AMER J HUM GENET 2002 71: 493-493.
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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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** 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

** Hegenbarth, K; Maurer, U; Kroisel, PM; Fickert, P; Trauner, M; Stauber, RE No evidence for mutagenic effects of ribavirin: report of two normal pregnancies.
Am J Gastroenterol. 2001; 96(7):2286-2287 Doi: 10.1111/j.1572-0241.2001.03997.x (- Case Report)
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** 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)

** 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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** 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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** 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 [OPEN ACCESS]
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** Kumar-Singh, S; De Jonghe, C; Cruts, M; Kleinert, R; Wang, R; Mercken, M; De Strooper, B; Vanderstichele, H; Löfgren, A; Vanderhoeven, I; Backhovens, H; Vanmechelen, E; Kroisel, PM; Van Broeckhoven, C Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
Hum Mol Genet. 2000; 9(18):2589-2598 Doi: 10.1093/hmg/9.18.2589 [OPEN ACCESS]
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** Löffler, J; Trojovsky, A; Casati, B; Kroisel, PM; Utermann, G Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
Am J Med Genet. 2000; 95(2):174-177 Doi: 10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9 (- Case Report)
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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)

** Stauber, RE; Hegenbarth, KS; Maurer, U; Kroisel, PM; Fickert, P; Trauner, M No evidence for teratogenic effects of ribavirin: Report of two cases.
HEPATOLOGY 2000 32: 1639-1639.
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** Van Broeckhoven, C; Kumar-Singh, S; De Jonghe, C; Cruts, M; Kleinert, R; Wang, R; Mercken, M; Vanderstichele, H; Lofgren, A; Vanmechelen, E; Kroisel, PM A missense mutation at the gamma 42 secretase site in APP points to an essential role for N- truncated A beta 42 in Alzheimer's disease.
AMER J HUM GENET 2000 67: 407-407.
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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)

** Pertl, B; Kopp, S; Kroisel, PM; Tului, L; Brambati, B; Adinolfi, M Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples.
J Med Genet. 1999; 36(4):300-303 [OPEN ACCESS]
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** Pertl, B; Pieber, D; Lercher-Hartlieb, A; Orescovic, I; Haeusler, M; Winter, R; Kroisel, P; Adinolfi, M Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders.
Mol Hum Reprod. 1999; 5(12):1176-1179 Doi: 10.1093/molehr/5.12.1176 [OPEN ACCESS]
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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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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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** Kooy, RF; Reyniers, E; Uhrig, S; Schoepen, I; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, M; Willems, PJ; Meitinger, T; Holinkski-Feder, E Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation t(3;16)(q29;p13.3).
AMER J HUM GENET 1999 65: A168-A168.
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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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1998

Originalarbeit (Zeitschrift)

** 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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Abstract (Zeitschrift)

** Pertl, B; Kroisel, PM; Pieber, D; Tului, L; Brambati, B Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: experience with 247 samples
EUR J HUMAN GENET 1998 6: 164-164.
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1997

Originalarbeit (Zeitschrift)

** Pertl, B; Kopp, S; Kroisel, PM; Häusler, M; Sherlock, J; Winter, R; Adinolfi, M Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex.
Am J Obstet Gynecol. 1997; 177(4):899-906 Doi: 10.1016/S0002-9378(97)70292-8
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** 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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Abstract (Zeitschrift)

** Rose, N; Hadjimarcou, MI; Zambela, M; Ioannou, P; Kroisel, PM; Patsalis, PC DOP-PCR FISH: A powerful procedure and an important tool for cytogenetic and research applications.
CYTOGENET CELL GENET 1997 77: P42-P42.
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1996

Originalarbeit (Zeitschrift)

** Argyriou-Tirita, A; Romanakis, K; Kroisel, P; Haas, OA Asynchronous replication patterns of imprinted genes in triploid cells.
Acta Genet Med Gemellol (Roma). 1996; 45(1-2):207-212 Doi: 10.1017/S0001566000001318
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** Constantinou Deltas, C; Bashiardes, E; Patsalis, PC; Hadjimarcou, M; Kroisel, PM; Ioannou, PA; Roses, AD; Lee, JE Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.
Cytogenet Cell Genet. 1996; 75(4):230-233 Doi: 10.1159/000134490
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** Pertl, B; Weitgasser, U; Kopp, S; Kroisel, PM; Sherlock, J; Adinolfi, M Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR.
Hum Genet. 1996; 98(1):55-59 Doi: 10.1007/s004390050159
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1995

Abstract (Zeitschrift)

** HAAS, QA; ARGYRIOUTIRITA, A; ROMANAKIS, K; KROISEL, P ASYNCHRONOUS REPLICATION PATTERNS OF IMPRINTED GENES IN TRIPLOID CELLS
AMER J HUM GENET 1995 57: 641-641.
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** 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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1994

Originalarbeit (Zeitschrift)

** Haire, RN; Ohta, Y; Lewis, JE; Fu, SM; Kroisel, P; Litman, GW TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12.
Hum Mol Genet. 1994; 3(6):897-901 Doi: 10.1093/hmg/3.6.897 [OPEN ACCESS]
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** Ioannou, PA; Amemiya, CT; Garnes, J; Kroisel, PM; Shizuya, H; Chen, C; Batzer, MA; de Jong, PJ A new bacteriophage P1-derived vector for the propagation of large human DNA fragments.
Nat Genet. 1994; 6(1):84-89 Doi: 10.1038/ng0194-84
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** Kroisel, PM; Ioannou, PA; de Jong, PJ PCR probes for chromosome in situ hybridization of large-insert bacterial recombinants.
CYTOGENET CELL GENET. 1994; 65(1-2): 97-100. Doi: 10.1159/000133609
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1992

Originalarbeit (Zeitschrift)

** Johnson, DH; Kroisel, PM; Klapper, HJ; Rosenkranz, W Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA.
Hum Mol Genet. 1992; 1(9):741-747 Doi: 10.1093/hmg/1.9.741 (- Case Report) [OPEN ACCESS]
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** 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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1991

Originalarbeit (Zeitschrift)

** Vortkamp, A; Thias, U; Gessler, M; Rosenkranz, W; Kroisel, PM; Tommerup, N; Krüger, G; Götz, J; Pelz, L; Grzeschik, KH A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.
Genomics. 1991; 11(3):737-743 Doi: 10.1016/0888-7543(91)90082-P [OPEN ACCESS]
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** 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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Übersichtsarbeit

** Slavc, I; Urban, C; Haas, OA; Kroisel, PM; Köller, U Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patients.
Cancer. 1991; 68(10):2266-2272 Doi: 10.1002/1097-0142(19911115)68:10<2266::AID-CNCR2820681027>3.0.CO;2-B (- Case Report)
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1990

Originalarbeit (Zeitschrift)

** Kroisel, PM; Rosenkranz, W High resolution banding of an unusual reciprocal translocation in recurrent abortions.
Clin Genet. 1990; 37(3):230-234 Doi: 10.1111/j.1399-0004.1990.tb03508.x (- Case Report)
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** 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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1987

Kurzbericht/Letter

** Urban, EC; Kroisel, P High-dose busulphan and cyclophosphamide as the primary preparative regimen for marrow transplantation in chronic myeloid leukaemia.
Bone Marrow Transplant. 1987; 2(2):217-218
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1985

Originalarbeit (Zeitschrift)

** Kroisel, PM; Rosenkranz, W; Schweizer, D Simultaneous production of R-bands and either replication patterns or sister chromatid differentiation.
HUM GENET. 1985; 71(4): 333-341. Doi: 10.1007/BF00388460
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1984

Originalarbeit (Zeitschrift)

** Zach, M; Polgar, G; Kump, H; Kroisel, P Cold air challenge of airway hyperreactivity in children: practical application and theoretical aspects.
Pediatr Res. 1984; 18(5):469-478 Doi: 10.1203/00006450-198405000-00016 [OPEN ACCESS]
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1983

Abstract (Zeitschrift)

** ZACH, M; POLGAR, G; KROISEL, P; KUMP, H COLD AIR PROVOCATION (CAP) OF AIRWAY HYPERREACTIVITY IN CHILDREN
CLIN RES. 1983; 31(2): A423-A423.
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** ZACH, M; POLGAR, G; KROISEL, P; KUMP, H COLD AIR PROVOCATION (CAP) OF AIRWAY HYPERREACTIVITY IN CHILDREN
AMER REV RESP DIS. 1983; 127(4): 213-213.
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