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Results: 1-18 |
Results: 18
Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene
Authors: Sahoo, T Goenaga-Diaz, E Serebriiskii, IG Thomas, JW Kotova, E Cuellar, JG Peloquin, JM Golemis, E Beitinjaneh, F Green, ED Johnson, EW Marchuk, DA
Citation: T. Sahoo et al., Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene, GENOMICS, 71(1), 2001, pp. 123-126
Central nervous system serotonin function and cardiovascular responses to stress
Authors: Williams, RB Marchuk, DA Gadde, KM Barefoot, JC Grichnik, K Helms, MJ Kuhn, CM Lewis, JG Schanberg, SM Stafford-Smith, M Suarez, EC Clary, GL Svenson, IK Siegler, IC
Citation: Rb. Williams et al., Central nervous system serotonin function and cardiovascular responses to stress, PSYCHOS MED, 63(2), 2001, pp. 300-305
Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation
Authors: Berg, JN Walter, JW Thisanagayam, U Evans, M Blei, F Waner, M Diamond, AG Marchuk, DA Porteous, ME
Citation: Jn. Berg et al., Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation, J CLIN PATH, 54(3), 2001, pp. 249-252
Pathogenesis of hemangioma
Authors: Marchuk, DA
Citation: Da. Marchuk, Pathogenesis of hemangioma, J CLIN INV, 107(6), 2001, pp. 665-666
A second leaky splice-site mutation in the spastin gene
Authors: Svenson, IK Ashley-Koch, AE Pericak-Vance, MA Marchuk, DA
Citation: Ik. Svenson et al., A second leaky splice-site mutation in the spastin gene, AM J HU GEN, 69(6), 2001, pp. 1407-1409
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
Authors: Svenson, IK Ashley-Koch, AE Gaskell, PC Riney, TJ Cumming, WJK Kingston, HM Hogan, EL Boustany, RMN Vance, JM Nance, MA Pericak-Vance, MA Marchuk, DA
Citation: Ik. Svenson et al., Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia, AM J HU GEN, 68(5), 2001, pp. 1077-1085
Additional glomangioma families link to chromosome 1p: No evidence for genetic heterogeneity
Authors: Calvert, JT Burns, S Riney, TJ Sahoo, T Orlow, SJ Nevin, NC Haisley-Royster, C Prose, N Simpson, SA Speer, MC Marchuk, DA
Citation: Jt. Calvert et al., Additional glomangioma families link to chromosome 1p: No evidence for genetic heterogeneity, HUMAN HERED, 51(3), 2001, pp. 180-182
Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms
Authors: Lux, A Gallione, CJ Marchuk, DA
Citation: A. Lux et al., Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms, HUM MOL GEN, 9(5), 2000, pp. 745-755
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect
Authors: Gallione, CJ Scheessele, EA Reinhardt, D Duits, AJ Berg, JN Westermann, CJJ Marchuk, DA
Citation: Cj. Gallione et al., Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect, HUM GENET, 107(1), 2000, pp. 40-44
Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred
Authors: McDonald, JE Miller, FJ Hallam, SE Nelson, L Marchuk, DA Ward, KJ
Citation: Je. Mcdonald et al., Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred, AM J MED G, 93(4), 2000, pp. 320-327
Abnormal pattern of Tie-2 and vascular endothelial growth factor receptor expression in human cerebral arteriovenous malformations
Authors: Hashimoto, T Emala, CW Joshi, S Mesa-Tejada, R Quick, CM Feng, L Libow, A Marchuk, DA Young, WL
Citation: T. Hashimoto et al., Abnormal pattern of Tie-2 and vascular endothelial growth factor receptor expression in human cerebral arteriovenous malformations, NEUROSURGER, 47(4), 2000, pp. 910-918
Endoglin, an ancillary TGF beta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development
Authors: Arthur, HM Ure, J Smith, AJH Renforth, G Wilson, DI Torsney, E Charlton, R Parums, DV Jowett, T Marchuk, DA Burn, J Diamond, AG
Citation: Hm. Arthur et al., Endoglin, an ancillary TGF beta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development, DEVELOP BIO, 217(1), 2000, pp. 42-53
Allelic and locus heterogeneity in inherited venous malformations
Authors: Calvert, JT Riney, TJ Kontos, CD Cha, EH Prieto, VG Shea, CR Berg, JN Nevin, NC Simpson, SA Pasyk, KA Speer, MC Peters, KG Marchuk, DA
Citation: Jt. Calvert et al., Allelic and locus heterogeneity in inherited venous malformations, HUM MOL GEN, 8(7), 1999, pp. 1279-1289
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1
Authors: Pece-Barbara, N Cymerman, U Vera, S Marchuk, DA Letarte, M
Citation: N. Pece-barbara et al., Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1, HUM MOL GEN, 8(12), 1999, pp. 2171-2181
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
Authors: Sahoo, T Johnson, EW Thomas, JW Kuehl, PM Jones, TL Dokken, CG Touchman, JW Gallione, CJ Lee-Lin, SQ Kosofsky, B Kurth, JH Louis, DN Mettler, G Morrison, L Gil-Nagel, A Rich, SS Zabramski, JM Boguski, MS Green, ED Marchuk, DA
Citation: T. Sahoo et al., Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1), HUM MOL GEN, 8(12), 1999, pp. 2325-2333
Genetic mapping of a novel familial form of infantile hemangioma
Authors: Walter, JW Blei, F Anderson, JL Orlow, SJ Speer, MC Marchuk, DA
Citation: Jw. Walter et al., Genetic mapping of a novel familial form of infantile hemangioma, AM J MED G, 82(1), 1999, pp. 77-83
Assignment of transforming growth factor beta 1 and beta 3 and a third newligand to the type I receptor ALK-1
Authors: Lux, A Attisano, L Marchuk, DA
Citation: A. Lux et al., Assignment of transforming growth factor beta 1 and beta 3 and a third newligand to the type I receptor ALK-1, J BIOL CHEM, 274(15), 1999, pp. 9984-9992
Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1
Authors: Rius, C Smith, JD Almendro, N Langa, C Botella, LM Marchuk, DA Vary, CPH Bernabeu, C
Citation: C. Rius et al., Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1, BLOOD, 92(12), 1998, pp. 4677-4690
Risultati: 1-18 |