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Results: 1-12 |
Results: 12
Parental mosaicism of JAG1 mutations in families with Alagille syndrome (vol 9, pg 209, 2001)
Authors: Giannakudis, J Ropke, A Kujat, A Krajewska-Walasek, M Hughes, H Fryns, JP Bankier, A Amor, D Schlicker, M Hansmann, I
Citation: J. Giannakudis et al., Parental mosaicism of JAG1 mutations in families with Alagille syndrome (vol 9, pg 209, 2001), EUR J HUM G, 9(7), 2001, pp. 559-559
Parental mosaicism of JAG1 mutations in families with Alagille syndrome
Authors: Giannakudis, J Ropke, A Kujat, A Krajewska-Walasek, M Hughes, H Fryns, JP Bankier, A Amor, D Schlicker, M Hansmann, I
Citation: J. Giannakudis et al., Parental mosaicism of JAG1 mutations in families with Alagille syndrome, EUR J HUM G, 9(3), 2001, pp. 209-216
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Authors: Witsch-Raumgartner, M Ciara, E Loffler, J Menzel, HJ Seedorf, U Burn, J Gillessen-Kaesbach, G Hoffmann, GF Fitzy, BU Mundy, H Clayton, P Kelley, RI Krajewska-Walasek, M Utermann, G
Citation: M. Witsch-raumgartner et al., Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations, EUR J HUM G, 9(1), 2001, pp. 45-50
Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene
Authors: Stankiewicz, P Rujner, J Loffler, C Kruger, A Nimmakayalu, M Pilacik, B Krajewska-Walasek, M Gutkowska, A Hansmann, I Giannakudis, I
Citation: P. Stankiewicz et al., Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene, AM J MED G, 103(2), 2001, pp. 166-171
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
Authors: Bielinska, B Blaydes, SM Buiting, K Yang, T Krajewska-Walasek, M Horsthemke, B Brannan, CI
Citation: B. Bielinska et al., De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch, NAT GENET, 25(1), 2000, pp. 74-78
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations
Authors: Varon, R Seemanova, E Chrzanowska, K Hnateyko, O Piekutowska-Abramczuk, D Krajewska-Walasek, M Sykut-Cegielska, J Sperling, K Reis, A
Citation: R. Varon et al., Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations, EUR J HUM G, 8(11), 2000, pp. 900-902
Maternal uniparental disomy 7 - review and further delineation of the phenotype
Authors: Kotzot, D Balmer, D Baumer, A Chrzanowska, K Hamel, BCJ Ilyina, H Krajewska-Walasek, M Lurie, IW Otten, BJ Schoenle, E Tariverdian, G Schinzel, A
Citation: D. Kotzot et al., Maternal uniparental disomy 7 - review and further delineation of the phenotype, EUR J PED, 159(4), 2000, pp. 247-256
Cranial MRI in the Nijmegen breakage syndrome
Authors: Bekiesinska-Figatowska, M Chrzanowska, KH Sikorska, J Walecki, J Krajewska-Walasek, M Jozwiak, S Kleijer, WJ
Citation: M. Bekiesinska-figatowska et al., Cranial MRI in the Nijmegen breakage syndrome, NEURORADIOL, 42(1), 2000, pp. 43-47
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
Authors: Kotzot, D Martinez, MJ Bagci, G Basaran, S Baumer, A Binkert, F Brecevic, L Castellan, C Chrzanowska, K Dutly, F Gutkowska, A Karauzum, SB Krajewska-Walasek, M Luleci, G Miny, P Riegel, M Schuffenhauer, S Seidel, H Schinzel, A
Citation: D. Kotzot et al., Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications, J MED GENET, 37(4), 2000, pp. 281-286
Nijmegen breakage syndrome
Authors: Hiel, JA Weemaes, CM van den Heuvel, LP van Engelen, BG Gabreels, FJ Smeets, DF van der Burgt, I Chrzanovska, KH Bernatowska, E Krajewska-Walasek, M Bialecka, M Abramczuk, D Gregorek, H Michalkiewicz, I Perek, D Midro, AT Seemanova, E Belohradsky, BH Solder, B Barbi, G Wegner, RD Sperling, K Dixon, J Maraschio, P Marseglia, GL Green, A Taylor, AM Der Kaloustian, VM Komatsu, K Matsuura, S Conley, ME Concannon, P Gatti, RA
Citation: Ja. Hiel et al., Nijmegen breakage syndrome, ARCH DIS CH, 82(5), 2000, pp. 400-406
Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies
Authors: Krajewska-Walasek, M Gradowska, W Ryzko, J Socha, P Chmielik, J Szaplyko, W Kasprzyk, J Gorska, B Szreter, M Wolski, J Rysiewski, H Malunowicz, EM Gregorek, H Michalkiewicz, J Pietraszek, E Szaplyko, J
Citation: M. Krajewska-walasek et al., Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies, CLIN DYSMOR, 8(1), 1999, pp. 29-40
Imprinting-mutation mechanisms in Prader-Willi syndrome
Authors: Ohta, T Gray, TA Rogan, PK Buiting, K Gabriel, JM Saitoh, S Muralidhar, B Bilienska, B Krajewska-Walasek, M Driscoll, DJ Horsthemke, B Butler, MG Nicholls, RD
Citation: T. Ohta et al., Imprinting-mutation mechanisms in Prader-Willi syndrome, AM J HU GEN, 64(2), 1999, pp. 397-413
Risultati: 1-12 |