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1. Tartaglia, M; Mehler, EL; Goldberg, R; Zampino, G; Brunner, HG; Kremer, H; van der Burgt, I; Crosby, AH; Ion, A; Jeffery, S; Kalidas, K; Patton, MA; Kucherlapati, RS; Gelb, BD
   Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
   NATURE GENETICS
   
   M. Tartaglia et al., "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome", NAT GENET, 29(4), 2001, pp. 465-468
2. Tartaglia, M; Mehler, EL; Goldberg, R; Zampino, G; Brunner, HG; Kremer, H; van der Burgt, I; Crosby, AH; Ion, A; Jeffery, S; Kalidas, K; Patton, MA; Kucherlapati, RS; Gelb, B
   Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001)
   NATURE GENETICS
   
   M. Tartaglia et al., "Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001)", NAT GENET, 29(4), 2001, pp. 491-491
3. van der Wall, G; Otten, BJ; Brunner, HG; van der Burgt, I
   3-M syndrome: description of six new patients with review of the literature
   CLINICAL DYSMORPHOLOGY
   
   G. van der Wall et al., "3-M syndrome: description of six new patients with review of the literature", CLIN DYSMOR, 10(4), 2001, pp. 241-252
4. Noordam, C; van der Burgt, I; Sengers, RCA; Delemarre-van de Waal, HA; Otten, BJ
   Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial
   ACTA PAEDIATRICA
   
   C. Noordam et al., "Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial", ACT PAEDIAT, 90(8), 2001, pp. 889-894
5. Noordam, C; van der Burgt, I; Sweep, CGJ; Delemarre-van de Waal, HA; Sengers, RCA; Otten, BJ
   Growth hormone (GH) secretion in children with Noonan syndrome: frequentlyabnormal without consequences for growth or response to GH treatment
   CLINICAL ENDOCRINOLOGY
   
   C. Noordam et al., "Growth hormone (GH) secretion in children with Noonan syndrome: frequentlyabnormal without consequences for growth or response to GH treatment", CLIN ENDOCR, 54(1), 2001, pp. 53-59
6. van der Burgt, I; Brunner, H
   Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   I. van der Burgt e H. Brunner, "Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form", AM J MED G, 94(1), 2000, pp. 46-51
7. Ion, A; Crosby, AH; Kremer, H; Kenmochi, N; Van Reen, M; Fenske, C; Van der Burgt, I; Brunner, HG; Montgomery, K; Kucherlapati, RS; Patton, MA; Page, DC; Mariman, E; Jeffery, S
   Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6
   JOURNAL OF MEDICAL GENETICS
   
   A. Ion et al., "Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6", J MED GENET, 37(11), 2000, pp. 884-886
8. 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
9. Yntema, HG; van den Helm, B; Knoers, NVAM; Smits, APT; van Roosmalen, T; Smeets, DFCM; Mariman, ECM; van der Burgt, I; van Bokhoven, H; Ropers, HH; Kremer, H; Hamel, BCJ
   X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   H.G. Yntema et al., "X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region", AM J MED G, 85(3), 1999, pp. 305-308
10. van der Burgt, I; Thoonen, G; Roosenboom, N; Assman-Hulsmans, C; Gabreels, F; Otten, B; Brunner, HG
    Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression
    JOURNAL OF PEDIATRICS
    
    I. van der Burgt et al., "Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression", J PEDIAT, 135(6), 1999, pp. 707-713