AAAAAA

   
Results: 1-9 |
Results: 9
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Authors: 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
Citation: 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
Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001)
Authors: 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
Citation: 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-M syndrome: description of six new patients with review of the literature
Authors: van der Wall, G Otten, BJ Brunner, HG van der Burgt, I
Citation: 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
Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial
Authors: Noordam, C van der Burgt, I Sengers, RCA Delemarre-van de Waal, HA Otten, BJ
Citation: 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
Growth hormone (GH) secretion in children with Noonan syndrome: frequentlyabnormal without consequences for growth or response to GH treatment
Authors: Noordam, C van der Burgt, I Sweep, CGJ Delemarre-van de Waal, HA Sengers, RCA Otten, BJ
Citation: 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
Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form
Authors: van der Burgt, I Brunner, H
Citation: I. Van Der Burgt et H. Brunner, Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form, AM J MED G, 94(1), 2000, pp. 46-51
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
X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
Authors: 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
Citation: Hg. 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
Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression
Authors: van der Burgt, I Thoonen, G Roosenboom, N Assman-Hulsmans, C Gabreels, F Otten, B Brunner, HG
Citation: 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
Risultati: 1-9 |