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Results: 1-11 |
Results: 11
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
Authors: Martignetti, JA Al Aqeel, A Al Sewairi, W Boumah, CE Kambouris, M Al Mayouf, S Sheth, KV Al Eid, W Dowling, O Harris, J Glucksman, MJ Bahabri, S Meyer, BF Desnick, RJ
Citation: Ja. Martignetti et al., Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome, NAT GENET, 28(3), 2001, pp. 261-265
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
Authors: Heath, KE Campos-Barros, A Toren, A Rozenfeld-Granot, G Carlsson, LE Savige, J Denison, JC Gregory, MC White, JG Barker, DF Greinacher, A Epstein, CJ Glucksman, MJ Martignetti, JA
Citation: Ke. Heath et al., Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes, AM J HU GEN, 69(5), 2001, pp. 1033-1045
Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22 - Evidence for a common genetic defect
Authors: Martignetti, JA Gelb, BD Pierce, H Picci, P Desnick, RJ
Citation: Ja. Martignetti et al., Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22 - Evidence for a common genetic defect, GENE CHROM, 27(2), 2000, pp. 191-195
Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family
Authors: Al Aqeel, A Al Sewairi, W Edress, B Gorlin, RJ Desnick, RJ Martignetti, JA
Citation: A. Al Aqeel et al., Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family, AM J MED G, 93(1), 2000, pp. 11-18
Leukocyte common-antigen-related tyrosine phosphatase receptor: altered expression of mRNA and protein in the New England Deaconess Hospital rat lineexhibiting spontaneous pheochromocytoma
Authors: Yang, T Martignetti, JA Massa, SM Longo, FM
Citation: T. Yang et al., Leukocyte common-antigen-related tyrosine phosphatase receptor: altered expression of mRNA and protein in the New England Deaconess Hospital rat lineexhibiting spontaneous pheochromocytoma, CARCINOGENE, 21(2), 2000, pp. 125-131
The neuropeptide processing enzyme EC 3.4.24.15 is modulated by protein kinase A phosphorylation
Authors: Tullai, JW Cummins, PM Pabon, A Roberts, JL Lopingeo, MC Shrimpton, CN Smith, AI Martignetti, JA Ferro, ES Glucksman, MJ
Citation: Jw. Tullai et al., The neuropeptide processing enzyme EC 3.4.24.15 is modulated by protein kinase A phosphorylation, J BIOL CHEM, 275(47), 2000, pp. 36514-36522
The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1
Authors: Martignetti, JA Heath, KE Harris, J Bizzaro, N Savoia, A Balduini, CL Desnick, RJ
Citation: Ja. Martignetti et al., The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1, AM J HU GEN, 66(4), 2000, pp. 1449-1454
Isolation, characterization, and mapping of four novel polymorphic markersand an H3.3B pseudogene to chromosome 9p21-22
Authors: Aliprandis, E Harris, J Yoo, B Gelb, BD Martignetti, JA
Citation: E. Aliprandis et al., Isolation, characterization, and mapping of four novel polymorphic markersand an H3.3B pseudogene to chromosome 9p21-22, J HUM GENET, 44(5), 1999, pp. 348-349
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions:Identification and expression of a novel acid beta-glucosidase mutation
Authors: Wasserstein, MP Martignetti, JA Zeitlin, R Lumerman, H Solomon, M Grace, ME Desnick, RJ
Citation: Mp. Wasserstein et al., Type 1 Gaucher disease presenting with extensive mandibular lytic lesions:Identification and expression of a novel acid beta-glucosidase mutation, AM J MED G, 84(4), 1999, pp. 334-339
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22
Authors: Martignetti, JA Desnick, RJ Aliprandis, E Norton, KI Hardcastle, P Nade, S Gelb, BD
Citation: Ja. Martignetti et al., Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22, AM J HU GEN, 64(3), 1999, pp. 801-807
Assignment of the human BC200 RNA gene (BCYRN1) to chromosome 2p16 by radiation hybrid mapping
Authors: Basile, V Vicente, A Martignetti, JA Skryabin, BV Brosius, J Kennedy, JL
Citation: V. Basile et al., Assignment of the human BC200 RNA gene (BCYRN1) to chromosome 2p16 by radiation hybrid mapping, CYTOG C GEN, 82(3-4), 1998, pp. 271-272
Risultati: 1-11 |