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1. Giannakudis, J; Ropke, A; Kujat, A; Krajewska-Walasek, M; Hughes, H; Fryns, JP; Bankier, A; Amor, D; Schlicker, M; Hansmann, I
   Parental mosaicism of JAG1 mutations in families with Alagille syndrome (vol 9, pg 209, 2001)
   EUROPEAN JOURNAL OF HUMAN GENETICS
   
   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
2. Giannakudis, J; Ropke, A; Kujat, A; Krajewska-Walasek, M; Hughes, H; Fryns, JP; Bankier, A; Amor, D; Schlicker, M; Hansmann, I
   Parental mosaicism of JAG1 mutations in families with Alagille syndrome
   EUROPEAN JOURNAL OF HUMAN GENETICS
   
   J. Giannakudis et al., "Parental mosaicism of JAG1 mutations in families with Alagille syndrome", EUR J HUM G, 9(3), 2001, pp. 209-216
3. 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
   Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
   EUROPEAN JOURNAL OF HUMAN GENETICS
   
   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
4. Stankiewicz, P; Rujner, J; Loffler, C; Kruger, A; Nimmakayalu, M; Pilacik, B; Krajewska-Walasek, M; Gutkowska, A; Hansmann, I; Giannakudis, I
   Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   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
5. Bielinska, B; Blaydes, SM; Buiting, K; Yang, T; Krajewska-Walasek, M; Horsthemke, B; Brannan, CI
   De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
   NATURE GENETICS
   
   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
6. Varon, R; Seemanova, E; Chrzanowska, K; Hnateyko, O; Piekutowska-Abramczuk, D; Krajewska-Walasek, M; Sykut-Cegielska, J; Sperling, K; Reis, A
   Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations
   EUROPEAN JOURNAL OF HUMAN GENETICS
   
   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
7. 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
   Maternal uniparental disomy 7 - review and further delineation of the phenotype
   EUROPEAN JOURNAL OF PEDIATRICS
   
   D. Kotzot et al., "Maternal uniparental disomy 7 - review and further delineation of the phenotype", EUR J PED, 159(4), 2000, pp. 247-256
8. Bekiesinska-Figatowska, M; Chrzanowska, KH; Sikorska, J; Walecki, J; Krajewska-Walasek, M; Jozwiak, S; Kleijer, WJ
   Cranial MRI in the Nijmegen breakage syndrome
   NEURORADIOLOGY
   
   M. Bekiesinska-Figatowska et al., "Cranial MRI in the Nijmegen breakage syndrome", NEURORADIOL, 42(1), 2000, pp. 43-47
9. 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
   Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
   JOURNAL OF MEDICAL GENETICS
   
   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
10. 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
    Nijmegen breakage syndrome
    ARCHIVES OF DISEASE IN CHILDHOOD
    
    J.A. Hiel et al., "Nijmegen breakage syndrome", ARCH DIS CH, 82(5), 2000, pp. 400-406
11. 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
    Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies
    CLINICAL DYSMORPHOLOGY
    
    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
12. 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
    Imprinting-mutation mechanisms in Prader-Willi syndrome
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    T. Ohta et al., "Imprinting-mutation mechanisms in Prader-Willi syndrome", AM J HU GEN, 64(2), 1999, pp. 397-413