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Results: 1-25 | 26-26
Results: 1-25/26
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
Diagnostics and treatment of HIV-discordant couples who wish to have children
Authors: Weigel, MM Kremer, H Sonnenberg-Schwan, U Golz, J Gurtler, L Doerr, HW Brockmeyer, NH
Citation: Mm. Weigel et al., Diagnostics and treatment of HIV-discordant couples who wish to have children, EUR J MED R, 6(7), 2001, pp. 317-321
The influence of furnace design on the NO formation in high temperature processes
Authors: Kremer, H May, F Wirtz, S
Citation: H. Kremer et al., The influence of furnace design on the NO formation in high temperature processes, ENERG CONV, 42(15-17), 2001, pp. 1937-1952
Der 'Schrecken'
Authors: Kremer, H
Citation: H. Kremer, Der 'Schrecken', LIT KRIT, (355-56), 2001, pp. 66-66
Optimization of burner systems for glass melting furnaces with regenerative air preheating
Authors: Scherello, A Flamme, M Kremer, H
Citation: A. Scherello et al., Optimization of burner systems for glass melting furnaces with regenerative air preheating, GL SCI T-GL, 73, 2000, pp. 379-386
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases
Authors: Hargrave, M James, K Nield, K Toomes, C Georgas, K Sullivan, T Verzijl, HTFM Oley, CA Little, M De Jonghe, P Kwon, JM Kremer, H Dixon, MJ Tirnmerman, V Yamada, T Koopman, P
Citation: M. Hargrave et al., Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases, HUM GENET, 106(4), 2000, pp. 432-439
PTEN mutation analysis in two genetic subtypes of high-grade oligodendroglial tumors: PTEN is only occasionally mutated in one of the two genetic subtypes
Authors: Jeuken, JWM Nelen, MR Vermeer, H van Staveren, WCG Kremer, H van Overbeeke, JJ Boerman, RH
Citation: Jwm. Jeuken et al., PTEN mutation analysis in two genetic subtypes of high-grade oligodendroglial tumors: PTEN is only occasionally mutated in one of the two genetic subtypes, CANC GENET, 119(1), 2000, pp. 42-47
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6
Authors: 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
Citation: 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
The natural history of hereditary neuralgic amyotrophy in the Dutch population - Two distinct types?
Authors: van Alfen, N van Engelen, BGM Reinders, JWC Kremer, H Gabreels, FJM
Citation: N. Van Alfen et al., The natural history of hereditary neuralgic amyotrophy in the Dutch population - Two distinct types?, BRAIN, 123, 2000, pp. 718-723
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations
Authors: Nelen, MR Kremer, H Konings, IBM Schoute, F van Essen, AJ Koch, R Woods, CG Fryns, JP Hamel, B Hoefsloot, LH Peeters, EAJ Padberg, GW
Citation: Mr. Nelen et al., Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations, EUR J HUM G, 7(3), 1999, pp. 267-273
Reducing NOx and CO emissions by burning plastics in the calciner of a rotary cement kiln plant
Authors: Jeschar, R Jennes, R Kremer, H Kellerhoff, T
Citation: R. Jeschar et al., Reducing NOx and CO emissions by burning plastics in the calciner of a rotary cement kiln plant, ZKG INT, 52(10), 1999, pp. 534
Mathematical modelling of glass melting furnace design with regard to NOx formation
Authors: May, F Kremer, H
Citation: F. May et H. Kremer, Mathematical modelling of glass melting furnace design with regard to NOx formation, GLASTEC BER, 72(1), 1999, pp. 1-6
Regulation and expression of the murine Pmp22 gene
Authors: van de Wetering, RAC Gabreels-Festen, AAWM Kremer, H Kalscheuer, VM Gabreels, FJM Mariman, EC
Citation: Rac. Van De Wetering et al., Regulation and expression of the murine Pmp22 gene, MAMM GENOME, 10(4), 1999, pp. 419-422
Studies on a local effect of boar seminal plasma on ovulation time in gilts
Authors: Waberski, D Kremer, H Neto, GB Jungblut, PW Kallweit, E Weitze, KF
Citation: D. Waberski et al., Studies on a local effect of boar seminal plasma on ovulation time in gilts, J VET MED A, 46(7), 1999, pp. 431-438
Sex-dependent effects of maternal PCB exposure on the electroretinogram inadult rats
Authors: Kremer, H Lilienthal, H Hany, J Roth-Harer, A Winneke, G
Citation: H. Kremer et al., Sex-dependent effects of maternal PCB exposure on the electroretinogram inadult rats, NEUROTOX T, 21(1), 1999, pp. 13-19
X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3
Authors: Siderius, LE Hamel, BCJ van Bokhoven, H de Jager, F van den Helm, B Kremer, H Heineman-de Boer, JA Ropers, HH Mariman, ECM
Citation: Le. Siderius et al., X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3, AM J MED G, 85(3), 1999, pp. 216-220
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium
Authors: des Portes, V Beldjord, C Chelly, J Hamel, B Kremer, H Smits, A van Bokhoven, H Ropers, HH Claes, S Fryns, JP Ronce, N Gendrot, C Toutain, A Raynaud, M Moraine, C
Citation: V. Des Portes et al., X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium, AM J MED G, 85(3), 1999, pp. 263-265
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
Authors: Hamel, BCJ Smits, APT van den Helm, B Smeets, DFCM Knoers, NVAM van Roosmalen, T Thoonen, GHJ Assman-Hulsmans, CFCH Ropers, HH Mariman, ECM Kremer, H
Citation: Bcj. Hamel et al., Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis, AM J MED G, 85(3), 1999, pp. 290-304
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
A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999)
Authors: Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation: Bcj. Hamel et al., A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999), J MED GENET, 36(8), 1999, pp. 654-654
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
Authors: Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation: Bcj. Hamel et al., A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region, J MED GENET, 36(2), 1999, pp. 140-143
A limited repertoire of mutations of the luteinizing hormone (LH) receptorgene in familial and sporadic patients with male LH-independent precociouspuberty
Authors: Kremer, H Martens, JWM van Reen, M Verhoef-Post, M Wit, JM Otten, BJ Drop, SLS Delemarre-van de Waal, HA Pombo-Arias, M De Luca, F Potau, N Buckler, JMH Jansen, M Parks, JS Latif, HA Moll, GW Epping, W Saggese, G Mariman, ECM Themmen, APN Brunner, HG
Citation: H. Kremer et al., A limited repertoire of mutations of the luteinizing hormone (LH) receptorgene in familial and sporadic patients with male LH-independent precociouspuberty, J CLIN END, 84(3), 1999, pp. 1136-1140
A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family
Authors: Verzijl, HTFM van den Helm, B Veldman, B Hamel, BCJ Kuyt, LP Padberg, GW Kremer, H
Citation: Htfm. Verzijl et al., A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family, AM J HU GEN, 65(3), 1999, pp. 752-756
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing
Authors: van Steensel, M Smith, FJD Steijlen, PM Kluijt, I Stevens, HP Messenger, A Kremer, H Dunnill, MGS Kennedy, C Munro, CS Doherty, VR McGrath, JA Covello, SP Coleman, CM Uitto, J McLean, WHI
Citation: M. Van Steensel et al., The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing, AM J HU GEN, 65(2), 1999, pp. 413-419
Risultati: 1-25 | 26-26