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Results: 1-13 |
Results: 13
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
Authors: Trembath, RC Thomson, JR Machado, RD Morgan, NV Atkinson, C Winship, I Simonneau, G Galie, N Loyd, JE Humbert, M Nichols, WC Morrell, NW Berg, J Manes, A McGaughran, J Pauciulo, M Wheeler, L
Citation: Rc. Trembath et al., Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia, N ENG J MED, 345(5), 2001, pp. 325-334
Molecular and genealogical evidence for a founder effect in Fanconi anemiafamilies of the Afrikaner population of South Africa
Authors: Tipping, AJ Pearson, T Morgan, NV Gibson, RA Kuyt, LP Havenga, C Gluckman, E Joenje, H de Ravel, T Jansen, S Mathew, CG
Citation: Aj. Tipping et al., Molecular and genealogical evidence for a founder effect in Fanconi anemiafamilies of the Afrikaner population of South Africa, P NAS US, 98(10), 2001, pp. 5734-5739
Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions
Authors: Cleton-Jansen, AM Callen, DF Seshadri, R Goldup, S McCallum, B Crawford, J Powell, JA Settasatian, C van Beerendonk, H Moerland, EW Smit, VTBHM Harris, WH Millis, R Morgan, NV Barnes, D Mathew, CG Cornelisse, CJ
Citation: Am. Cleton-jansen et al., Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions, CANCER RES, 61(3), 2001, pp. 1171-1177
Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma
Authors: Morrissey, C Martinez, A Zatyka, M Agathanggelou, A Honorio, S Astuti, D Morgan, NV Moch, H Richards, FM Kishida, T Yao, M Schraml, P Latif, F Maher, ER
Citation: C. Morrissey et al., Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma, CANCER RES, 61(19), 2001, pp. 7277-7281
Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1 alpha in clear cell renal carcinomas
Authors: Wiesener, MS Munchenhagen, PM Berger, I Morgan, NV Roigas, J Schwiertz, A Jurgensen, JS Gruber, G Maxwell, PH Loning, SA Frei, U Maher, ER Grone, HJ Eckardt, KU
Citation: Ms. Wiesener et al., Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1 alpha in clear cell renal carcinomas, CANCER RES, 61(13), 2001, pp. 5215-5222
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
Authors: Machado, RD Pauciulo, MW Thomson, JR Lane, KB Morgan, NV Wheeler, L Phillips, JA Newman, J Williams, D Galie, N Manes, A McNeil, K Yacoub, M Mikhail, G Rogers, P Corris, P Humbert, M Donnai, D Martensson, G Tranebjaerg, L Loyd, JE Trembath, RC Nichols, WC
Citation: Rd. Machado et al., BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension, AM J HU GEN, 68(1), 2001, pp. 92-102
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9
Authors: Demuth, I Wlodarski, M Tipping, AJ Morgan, NV de Winter, JP Thiel, M Grasl, S Schindler, D D'Andrea, AD Altay, C Kayserili, H Zatterale, A Kunze, J Ebell, W Mathew, CG Joenje, H Sperling, K Digweed, M
Citation: I. Demuth et al., Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9, EUR J HUM G, 8(11), 2000, pp. 861-868
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
Authors: Thomson, JR Machado, RD Pauciulo, MW Morgan, NV Humbert, M Elliott, GC Ward, K Yacoub, M Mikhail, G Rogers, P Newman, J Wheeler, L Higenbottam, T Gibbs, JSR Egan, J Crozier, A Peacock, A Allcock, R Corris, P Loyd, JE Trembath, RC Nichols, WC
Citation: Jr. Thomson et al., Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family, J MED GENET, 37(10), 2000, pp. 741-745
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
High frequency of large intragenic deletions in the Fanconi anemia group Agene
Authors: Morgan, NV Tipping, AJ Joenje, H Mathew, CG
Citation: Nv. Morgan et al., High frequency of large intragenic deletions in the Fanconi anemia group Agene, AM J HU GEN, 65(5), 1999, pp. 1330-1341
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: 1-13 |