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Results: 1-25 | 26-27
Results: 1-25/27
Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice
Authors: Iwata, T Li, CL Deng, CX Francomano, CA
Citation: T. Iwata et al., Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice, HUM MOL GEN, 10(12), 2001, pp. 1255-1264
Characterization of a human gene encoding nucleosomal binding protein NSBP1
Authors: King, LM Francomano, CA
Citation: Lm. King et Ca. Francomano, Characterization of a human gene encoding nucleosomal binding protein NSBP1, GENOMICS, 71(2), 2001, pp. 163-173
Auditory dysfunction in Stickler syndrome
Authors: Szymko-Bennett, YM Mastroianni, MA Shotland, LI Davis, J Ondrey, FG Balog, JZ Rudy, SF McCullagh, L Levy, HP Liberfarb, RM Francomano, CA Griffith, AJ
Citation: Ym. Szymko-bennett et al., Auditory dysfunction in Stickler syndrome, ARCH OTOLAR, 127(9), 2001, pp. 1061-1068
Thoracolumbar spinal abnormalities in Stickler syndrome
Authors: Rose, PS Ahn, NU Levy, HP Ahn, UM Davis, J Liberfarb, RM Nallamshetty, L Sponseller, PD Francomano, CA
Citation: Ps. Rose et al., Thoracolumbar spinal abnormalities in Stickler syndrome, SPINE, 26(4), 2001, pp. 403-409
The hip in Stickler syndrome
Authors: Rose, PS Ahn, NU Levy, HP Magid, D Davis, J Liberfarb, RM Sponseller, PD Francomano, CA
Citation: Ps. Rose et al., The hip in Stickler syndrome, J PED ORTH, 21(5), 2001, pp. 657-663
Living with Marfan syndrome I. Perceptions of the condition
Authors: Peters, KF Kong, F Horne, R Francomano, CA Biesecker, BB
Citation: Kf. Peters et al., Living with Marfan syndrome I. Perceptions of the condition, CLIN GENET, 60(4), 2001, pp. 273-282
Living with Marfan syndrome II. Medication adherence and physical activitymodification
Authors: Peters, KF Horne, R Kong, F Francomano, CA Biesecker, BB
Citation: Kf. Peters et al., Living with Marfan syndrome II. Medication adherence and physical activitymodification, CLIN GENET, 60(4), 2001, pp. 283-292
A comparison of the Berlin and Ghent nosologies and the influence of duralectasia in the diagnosis of Marfan syndrome
Authors: Rose, PS Levy, HP Ahn, NU Sponseller, PD Magyari, T Davis, J Francomano, CA
Citation: Ps. Rose et al., A comparison of the Berlin and Ghent nosologies and the influence of duralectasia in the diagnosis of Marfan syndrome, GENET MED, 2(5), 2000, pp. 278-282
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos
Authors: Iwata, T Chen, L Li, CI Ovchinnikov, DA Behringer, RR Francomano, CA Deng, CX
Citation: T. Iwata et al., A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos, HUM MOL GEN, 9(11), 2000, pp. 1603-1613
A skeletal gene database
Authors: Ho, NC Jia, LB Driscoll, CC Gutter, EM Francomano, CA
Citation: Nc. Ho et al., A skeletal gene database, J BONE MIN, 15(11), 2000, pp. 2095-2122
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
Authors: Vajo, Z Francomano, CA Wilkin, DJ
Citation: Z. Vajo et al., The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans, ENDOCR REV, 21(1), 2000, pp. 23-39
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons
Authors: Wilkin, DJ Liberfarb, R Davis, J Levy, HP Cole, WG Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons, AM J MED G, 94(2), 2000, pp. 141-148
Severe hypodontia and oral xanthomas in Alagille syndrome
Authors: Ho, NC Lacbawan, F Francomano, CA Ho, V
Citation: Nc. Ho et al., Severe hypodontia and oral xanthomas in Alagille syndrome, AM J MED G, 93(3), 2000, pp. 250-252
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder
Authors: Ho, NC Francomano, CA van Allen, M
Citation: Nc. Ho et al., Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder, AM J MED G, 90(4), 2000, pp. 310-314
Minocycline-induced generalized postinflammatory elastolysis
Authors: Ho, NC McInerney, A Levy, H Francomano, CA Elkayam, O
Citation: Nc. Ho et al., Minocycline-induced generalized postinflammatory elastolysis, AM J MED, 109(4), 2000, pp. 340-341
Distinct missense mutations of the FCFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
Authors: Bellus, GA Spector, EB Speiser, PW Weaver, CA Garber, AT Bryke, CR Israel, J Rosengren, SS Webster, MK Donoghue, DJ Francomano, CA
Citation: Ga. Bellus et al., Distinct missense mutations of the FCFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype, AM J HU GEN, 67(6), 2000, pp. 1411-1421
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
Authors: Johnston, JJ Kelley, RI Crawford, TO Morton, DH Agarwala, R Koch, T Schaffer, AA Francomano, CA Biesecker, LG
Citation: Jj. Johnston et al., A novel nemaline myopathy in the Amish caused by a mutation in troponin T1, AM J HU GEN, 67(4), 2000, pp. 814-821
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast tohuman: a gene required for ubiquinone biosynthesis with potential implications for aging
Authors: Vajo, Z King, LM Jonassen, T Wilkin, DJ Ho, N Munnich, A Clarke, CF Francomano, CA
Citation: Z. Vajo et al., Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast tohuman: a gene required for ubiquinone biosynthesis with potential implications for aging, MAMM GENOME, 10(10), 1999, pp. 1000-1004
Characterization of the human Talin (TLN) gene: Genomic structure, chromosomal localization, and expression pattern
Authors: Ben-Yosef, T Francomano, CA
Citation: T. Ben-yosef et Ca. Francomano, Characterization of the human Talin (TLN) gene: Genomic structure, chromosomal localization, and expression pattern, GENOMICS, 62(2), 1999, pp. 316-319
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
Authors: Deere, M Sanford, T Francomano, CA Daniels, K Hecht, JT
Citation: M. Deere et al., Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia, AM J MED G, 85(5), 1999, pp. 486-490
Small deletions in the type II collagen triple helix produce Kniest dysplasia
Authors: Wilkin, DJ Artz, AS South, S Lachman, RS Rimoin, DL Wilcox, WR McKusick, VA Stratakis, CA Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Small deletions in the type II collagen triple helix produce Kniest dysplasia, AM J MED G, 85(2), 1999, pp. 105-112
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
Authors: Bellus, GA Bamshad, MJ Przylepa, KA Dorst, J Lee, RR Hurko, O Jabs, EW Curry, CJR Wilcox, WR Lachman, RS Rimoin, DL Francomano, CA
Citation: Ga. Bellus et al., Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3, AM J MED G, 85(1), 1999, pp. 53-65
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
Authors: Tavormina, PL Bellus, GA Webster, MK Bamshad, MJ Fraley, AE McIntosh, I Szabo, J Jiang, W Jabs, EW Wilcox, WR Wasmuth, JJ Donoghue, DJ Thompson, LM Francomano, CA
Citation: Pl. Tavormina et al., A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene, AM J HU GEN, 64(3), 1999, pp. 722-731
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs
Authors: Eyaid, WM Clough, MV Root, H Scott, KM McCormick, MK Zhang, X Lisitsyn, NA Kearns, WG Francomano, CA Richards, JE McIntosh, I
Citation: Wm. Eyaid et al., Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs, HUM GENET, 103(4), 1998, pp. 525-526
Risultati: 1-25 | 26-27