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Results: 1-11 |
Results: 11
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Authors: Leegwater, PAJ Vermeulen, G Konst, AAM Naidu, S Mulders, J Visser, A Kersbergen, P Mobach, D Fonds, D van Berkel, CGM Lemmers, RJLF Frants, RR Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter, NAT GENET, 29(4), 2001, pp. 383-388
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts
Authors: Leegwater, PAJ Yuan, BQ van der Steen, J Mulders, J Konst, AAM Boor, PKI Mejaski-Bosnjak, V van der Maarel, S Frants, RR Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts, AM J HU GEN, 68(4), 2001, pp. 831-838
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
Authors: de Winter, JP Rooimans, MA van der Weel, L van Berkel, CGM Alon, N Bosnoyan-Collins, L de Groot, J Zhi, Y Waisfisz, Q Pronk, JC Arwert, F Mathew, CG Scheper, RJ Hoatlin, ME Buchwald, M Joenje, H
Citation: Jp. De Winter et al., The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM, NAT GENET, 24(1), 2000, pp. 15-16
Isolation of a cDNA representing the Fanconi anemia complementation group E gene
Authors: de Winter, JP Leveille, F van Berkel, CGM Rooimans, MA van der Weel, L Steltenpool, J Demuth, I Morgan, NV Alon, N Bosnoyan-Collins, L Lightfoot, J Leegwater, PA Waisfisz, Q Komatsu, K Arwert, F Pronk, JC Mathew, CG Digweed, M Buchwald, M Joenje, H
Citation: Jp. De Winter et al., Isolation of a cDNA representing the Fanconi anemia complementation group E gene, AM J HU GEN, 67(5), 2000, pp. 1306-1308
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
Authors: Waisfisz, Q Morgan, NV Savino, M de Winter, JP van Berkel, CGM Hoatlin, ME Ianzano, L Gibson, RA Arwert, F Savoia, A Mathew, CG Pronk, JC Joenje, H
Citation: Q. Waisfisz et al., Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism, NAT GENET, 22(4), 1999, pp. 379-383
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
Authors: Wijker, M Morgan, NV Herterich, S van Berkel, CGM Tipping, AJ Gross, HJ Gille, JJP Pals, G Savino, M Altay, C Mohan, S Dokal, I Cavenagh, J Marsh, J Van Weel, M Ortega, JJ Schuler, D Samochatova, E Karwacki, M Bekassy, AN Abecasis, M Ebell, W Kwee, ML de Ravel, T Gibson, RA Gluckman, E Arwert, F Joenje, H Savoia, A Hoehn, H Pronk, JC Mathew, CG
Citation: M. Wijker et al., Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene, EUR J HUM G, 7(1), 1999, pp. 52-59
The PISSLRE gene: Structure, exon skipping, and exclusion as tumor suppressor in breast cancer
Authors: Crawford, J Ianzano, L Savino, M Whitmore, S Cleton-Jansen, AM Settasatian, C d'Apolito, M Seshadri, R Pronk, JC Auerbach, AD Verlander, PC Mathew, CG Tipping, AJ Doggett, NA Zelante, L Callen, DF Savoia, A
Citation: J. Crawford et al., The PISSLRE gene: Structure, exon skipping, and exclusion as tumor suppressor in breast cancer, GENOMICS, 56(1), 1999, pp. 90-97
Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family
Authors: Koc, A Pronk, JC Alikasifoglu, M Joenje, H Altay, C
Citation: A. Koc et al., Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family, BR J HAEM, 104(1), 1999, pp. 127-130
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3
Authors: Cleton-Jansen, AM Moerland, EW Pronk, JC van Berkel, CGM Apostolou, S Crawford, J Savoia, A Auerbach, AD Mathew, CG Callen, DF Cornelisse, CJ
Citation: Am. Cleton-jansen et al., Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3, BR J CANC, 79(7-8), 1999, pp. 1049-1052
The gene for leukoencephalopathy with vanishing white matter is located onchromosome 3q27
Authors: Leegwater, PAJ Konst, AAM Kuyt, B Sandkuijl, LA Naidu, S Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., The gene for leukoencephalopathy with vanishing white matter is located onchromosome 3q27, AM J HU GEN, 65(3), 1999, pp. 728-734
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
Authors: Waisfisz, Q Saar, K Morgan, NV Altay, C Leegwater, PA de Winter, JP Komatsu, K Evans, GR Wegner, RD Reis, A Joenje, H Arwert, F Mathew, CG Pronk, JC Digweed, M
Citation: Q. Waisfisz et al., The Fanconi anemia group E gene, FANCE, maps to chromosome 6p, AM J HU GEN, 64(5), 1999, pp. 1400-1405
Risultati: 1-11 |