المؤلفون: Posada Bernal, David, Moreno Giraldo, Lina Johanna

المصدر: Revista Médicas UIS; v. 37 n. 1 (2024): Médicas UIS; 111-119 ; Médicas UIS; Vol. 37 Núm. 1 (2024): Médicas UIS; 111-119 ; Médicas UIS; Vol. 37 No. 1 (2024): Médicas UIS; 111-119 ; 1794-5240 ; 0121-0319

مصطلحات موضوعية: TRPV Cation Channels, Bone Diseases, Developmental, Sequence Analysis, DNA, Canales Catiónicos TRPV, Enfermedades del Desarrollo Óseo, Análisis de Secuencia de ADN

وصف الملف: application/pdf

Relation: https://revistas.uis.edu.co/index.php/revistamedicasuis/article/view/15266/13406; https://revistas.uis.edu.co/index.php/revistamedicasuis/article/view/15266

الاتاحة: https://revistas.uis.edu.co/index.php/revistamedicasuis/article/view/15266
https://doi.org/10.18273/revmed.v37n1-2024009

المؤلفون: Estela Morales Peralta, Gretell Huertas Pérez

المصدر: Revista Finlay, Vol 11, Iss 1, Pp 4-9 (2021)

مصطلحات موضوعية: enfermedades del desarrollo óseo, enfermedades genéticas congénitas, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

Relation: https://revfinlay.sld.cu/index.php/finlay/article/view/804; https://doaj.org/toc/2221-2434; https://doaj.org/article/8ae152f2ee7d4f9ea24a9f63978a9370

الاتاحة: https://doaj.org/article/8ae152f2ee7d4f9ea24a9f63978a9370

المؤلفون: Estela Morales Peralta, Gretell Huertas Pérez

المصدر: Revista Finlay, Vol 11, Iss 1, Pp 4-9 (2021)

مصطلحات موضوعية: enfermedades del desarrollo óseo, enfermedades genéticas congénitas, Internal medicine, RC31-1245, Special situations and conditions, RC952-1245

Relation: http://www.revfinlay.sld.cu/index.php/finlay/article/view/804; https://doaj.org/toc/2221-2434; https://doaj.org/article/50732acbb0ec4481b058445245ebafe4

الاتاحة: https://doaj.org/article/50732acbb0ec4481b058445245ebafe4

المؤلفون: Rodríguez, Fernando

المساهمون: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana

المصدر: Revista Colombiana de Radiología; Vol. 21 Núm. 3 (2010)

مصطلحات موضوعية: Displasia campomélica, Enfermedades del desarrollo óseo, Diagnóstico prenatal, Radiología, Campomelic dysplasia, Bone diseases, developmental, Prenatal diagnosis, Radiology

وصف الملف: PDF; application/pdf; Papel / Electrónico

Relation: https://aprenderly.com/doc/3464800/displasia-esquel%C3%A9tica-campom%C3%A9lica.-reporte-de-caso; 0121-2095 (Electrónica); http://hdl.handle.net/10554/47919

الاتاحة: http://hdl.handle.net/10554/47919
https://aprenderly.com/doc/3464800/displasia-esquel%C3%A9tica-campom%C3%A9lica.-reporte-de-caso

المؤلفون: Quiroz Bucheli, Adriana, Melo Solarte, Diego Samir, Narváez Solarte, William

المصدر: https://revistasojs.ucaldas.edu.co/index.php/boletincientifico/article/view/327.

مصطلحات موضوعية: bird, cartilage, bone development diseases, tibia, ave, cartílago, enfermedades del desarrollo óseo

وصف الملف: application/pdf

Relation: 85; 76; 24; Boletín Científico. Centro de Museos; Almeida Paz, I.C.L., Mendes, A.A., Takita, T.S., Vulcano, L.C., Guerra, P.C., Wechsler, F.S., Garcia, R.G., Takahashi, S.E., Moreira, J., Pelícia, K., Komiyama, C.M. & Quinteiro, R.R. (2005). Comparison of techniques for tibial dyschondroplasia assessment in broiler chickens. Brazilian Journal of Poultry, 7(1): 27–31. doi: http://dx.doi.org/10.1590/S1516-635X2005000100005; Edwards, H.M. & Veltmann, J.R. (1983). The role of calcium and phosphorus in the etiology of tibial dyschondroplasia in young chicks. Journal of Nutrition, 113(8): 1568–1575. doi: https://doi.org/10.1093/jn/113.8.1568; Farquharson, C., Loveridge, N., Whitehead, C., Rennie, S., Jakowlew, S. & Thorp, B. (1992). P9. Control of chondrocyte maturation: role of glycosaminoglycans, c-myc and TGFβ in the development of avian tibial dyschondroplasia. Bone, 13(3): 277. doi: https://doi.org/10.1016/8756-3282(92)90228-O; Farquharson, C. & Jefferies, D. (2000). Chondrocytes and Longitudinal Bone Growth: The Development of Tibial Dyschondroplasia. Poultry Science, 79(7): 994–1004. doi: https://doi.org/10.1093/ps/79.7.994; Imik, H., Kapakin, K., Gümüş, R., Kapakin, S. & Kurt, A. (2012). The effect of tibial dyschondroplasia on metabolic parameters in broiler chickens. Ankara Üniversitesi Veteriner Fakültesi Dergisi, 59(1): 271–277. doi:10.1501/Vetfak_0000002538; Julian, R.J. (1998). Rapid growth problems: ascites and skeletal deformities in broilers. Poultry Science, 77(12): 1773–1780. doi: https://doi.org/10.1093/ps/77.12.1773; Julian, R.J. (2005). Production and growth related disorders and other metabolic diseases of poultry--a review.The Veterinary Journal, 169(3): 350–369. doi: https://doi.org/10.1016/j.tvjl.2004.04.015; Kapakin, K., Kapakin, S., Imik, H., Gumus, R. & Eser, G. (2019). The Investigation of the Relationship Between HSP27 Release and Oxidative DNA Damage in Broiler Chickens with Tibial Dyschondroplasia by Using Histopathological and Immunohistochemical Methods. Brazilian Journal of Poultry, 21(3): 1–6. doi: http://dx.doi.org/10.1590/1806-9061-2019-1091; Mehmood, K., Zhang, H., Li, K., Wang, L., Rehman, M., Nabi, F., …& Li, J. (2018). Effect of tetramethylpyrazine on tibial dyschondroplasia incidence, tibial angiogenesis, performance and characteristics via HIF-1a/VEGF signaling pathway in chickens. Scientific Reports, 8(1):2495. doi:10.1038/s41598-018-20562-3.; Mrad, A. (2006). Ética en la investigación con modelos animales experimentales. Alternativas y las 3 RS de Russel. Una responsabilidady un compromiso ético que nos compete a todos. Revista Colombiana de Bioética, 1(1): 163-183.; NRC - National Research Council, (1994). Nutrient Requirements of Poultry. (9th rev. ed.). Washington, DC: National Academy Press.; Rath, N.C., Huff, W.E., Bayyari, G.R. & Balog, J.M. (1998). Cell death in avian tibial dyschondroplasia. Avian Diseases, 42(1): 72–79.; Rath, N.C., Huff, W.E., Balog, J.M. & Huff, G.R. (2004). Comparative efficacy of different dithiocarbamates to induce tibial dyschondroplasia in poultry. Poultry Science, 83(2): 266–274. doi: https://doi.org/10.1093/ps/83.2.266; Rath, N.C., Kannan, L., Pillai, P.B., Huff, W.E., Huff, G.R., Horst, R.L. & Emmert, J.L., (2007). Evaluation of the efficacy of vitamin D3 or its metabolites on thiram-induced tibial dyschondroplasia in chickens. Research in Veterinary Science, 83(2): 244–250. doi: https://doi.org/10.1016/j.rvsc.2006.12.008; Rostagno, H.S., Albino, L.F.T., Donzele, J.L., Gomes, P.C., Oliveira, R.F, Lopes, D.C., . & Euclides, R.F. (2011). Tabelas brasileiras para aves e suínos: composição de alimentos e exigências nutricionais. (3ra ed.). Viçosa, Brasil: MG, Universidade Federal de Viçosa.; Saif, Y.M., Fadly, A.M., Glisson, J.R., Mcdougald, L.R., Nolan, L.K. & Swayne, D.E. (2008). Diseases of poultry. (12th ed.). Ames, Iowa: Blackwell Publishing.; Takita, T.S., Gonzales, E., Loddi, M.M. & Ramos, A.A. (1998). Métodos de avaliação de discondroplasia tibial em frangos de corte. In: Conferência Apinco de Ciência e Tecnologia Avícola, Anais. Campinas: Facta.; Thorp, B.H., Whitehead, C.C. & Rennie, J.S. (1991). Avian tibial dyschondroplasia: a comparison of the incidence and severity as assessed by gross examination and histopathology. Research in Veterinary Science, 51(1): 48–54. doi: https://doi.org/10.1016/0034-5288(91)90030-R; Thorp, B.H., Ducro, B., Whitehead, C.C., Farquharson, C. & Sorensen, P. (1993). Avian tibial dyschondroplasia: the interaction of genetic selection and dietary 1,25 dihydroxycholecalciferol. Avian Pathology, 22(2): 311–324. doi: https://doi.org/10.1080/03079459308418923; Thorp, B.H. (1994). Skeletal disorders in the fowl: a review. Avian Pathology, 23(2): 203–236. doi: https://doi.org/10.1080/03079459408418991; Thorp, B.H., Dick, L., Jefferies, D., Houston, B. & Wilson, J. (1997). An assessment of the efficacy of the lixiscope for the detection of tibial dyschondroplasia. Avian Pathology, 26(1): 97–104. doi: https://doi.org/10.1080/03079459708419197; Tian, W.X., Li, J.K., Qin, P., Wang, R., Ning, G.B., Qiao, J.G., … & Guo, D.Z. (2013). Screening of differentially expressed genes in the growth plate of broiler chickens with Tibial Dyschondroplasia by microarray analysis. Bio Med Central Genomics, 14(1): 276. doi: https://dx.doi.org/10.1186%2F1471-2164-14-276.; Tselepis, C., Kwan, A.P.L., Thornton, D. & Sheehan, J. (2000). The biochemical characterization of aggrecan from normal and tibialdyschondroplasic chicken growth-plate cartilage. Biochemical Journal, 351(2): 517–525.; Whitehead, C.C. (1995). The role of vitamin D metabolites in the prevention of tibial dyschondroplasia. Animal Feed Science and Technology, 53(2): 205–210. doi: https://doi.org/10.1016/0377-8401(95)02013-P; Whitehead, C.C. (2009). Factores nutricionales que influyen en los problemas óseos actuales de los broilers. Memorias XLVI Simposio científico de avicultura. Zaragoza.; Zhang, J.P., Deng, Y.F., Zhou, Z.L. & Hou, J.F. (2013). Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia. Poultry Science, 92(12): 3214–3227. doi:10.3382/ps.2013-03420.; Zhang, H., Mehmood, K., Li, K., Rehman, M., Jiang, X., Huang, S., Wang, L., Zhang, L., . & Li, J. (2018). Icariin ameliorate thiraminduced tibial dyschondroplasia via regulation of WNT4 and VEGF Expression in broiler chickens. Frontiers in Pharmacology, 9(1):123. doi:10.3389/fphar.2018.00123; Zhang, J., Huang, S., Tong, X., Zhang, L., Jiang, X., Zhang,H., Mehmood, K., & Li, J. (2019). Chlorogenic Acid Alleviates ThiramInduced Tibial Dyschondroplasia by Modulating Caspases, BECN1 Expression and ECM Degradation. International Journal of Molecular Sciences, 20(13):3160. doi:10.3390/ijms20133160; Núm. 1 , Año 2020 : Enero - Junio; https://revistasojs.ucaldas.edu.co/index.php/boletincientifico/article/download/327/259; https://doi.org/10.17151/bccm.2020.24.1.5

الاتاحة: https://doi.org/10.17151/bccm.2020.24.1.5

المؤلفون: Quiroz Bucheli, Adriana, Melo Solarte, Diego Samir, Narváez Solarte, William

المصدر: Boletín Científico. Centro de Museos; Vol. 24 No. 1 (2020): January June; 76-85 ; Boletín Científico Centro de Museos Museo de Historia Natural; Vol. 24 Núm. 1 (2020): Enero - Junio; 76-85 ; 2462-8190 ; 0123-3068

مصطلحات موضوعية: bird, cartilage, bone development diseases, tibia, ave, cartílago, enfermedades del desarrollo óseo

وصف الملف: application/pdf

Relation: Almeida Paz, I.C.L., Mendes, A.A., Takita, T.S., Vulcano, L.C., Guerra, P.C., Wechsler, F.S., Garcia, R.G., Takahashi, S.E., Moreira, J., Pelícia, K., Komiyama, C.M. & Quinteiro, R.R. (2005). Comparison of techniques for tibial dyschondroplasia assessment in broiler chickens. Brazilian Journal of Poultry, 7(1): 27–31. doi: http://dx.doi.org/10.1590/S1516-635X2005000100005; Edwards, H.M. & Veltmann, J.R. (1983). The role of calcium and phosphorus in the etiology of tibial dyschondroplasia in young chicks. Journal of Nutrition, 113(8): 1568–1575. doi: https://doi.org/10.1093/jn/113.8.1568; Farquharson, C., Loveridge, N., Whitehead, C., Rennie, S., Jakowlew, S. & Thorp, B. (1992). P9. Control of chondrocyte maturation: role of glycosaminoglycans, c-myc and TGFβ in the development of avian tibial dyschondroplasia. Bone, 13(3): 277. doi: https://doi.org/10.1016/8756-3282(92)90228-O; Farquharson, C. & Jefferies, D. (2000). Chondrocytes and Longitudinal Bone Growth: The Development of Tibial Dyschondroplasia. Poultry Science, 79(7): 994–1004. doi: https://doi.org/10.1093/ps/79.7.994; Imik, H., Kapakin, K., Gümüş, R., Kapakin, S. & Kurt, A. (2012). The effect of tibial dyschondroplasia on metabolic parameters in broiler chickens. Ankara Üniversitesi Veteriner Fakültesi Dergisi, 59(1): 271–277. doi:10.1501/Vetfak_0000002538; Julian, R.J. (1998). Rapid growth problems: ascites and skeletal deformities in broilers. Poultry Science, 77(12): 1773–1780. doi: https://doi.org/10.1093/ps/77.12.1773; Julian, R.J. (2005). Production and growth related disorders and other metabolic diseases of poultry--a review.The Veterinary Journal, 169(3): 350–369. doi: https://doi.org/10.1016/j.tvjl.2004.04.015; Kapakin, K., Kapakin, S., Imik, H., Gumus, R. & Eser, G. (2019). The Investigation of the Relationship Between HSP27 Release and Oxidative DNA Damage in Broiler Chickens with Tibial Dyschondroplasia by Using Histopathological and Immunohistochemical Methods. Brazilian Journal of Poultry, 21(3): 1–6. doi: http://dx.doi.org/10.1590/1806-9061-2019-1091; Mehmood, K., Zhang, H., Li, K., Wang, L., Rehman, M., Nabi, F., …& Li, J. (2018). Effect of tetramethylpyrazine on tibial dyschondroplasia incidence, tibial angiogenesis, performance and characteristics via HIF-1a/VEGF signaling pathway in chickens. Scientific Reports, 8(1):2495. doi:10.1038/s41598-018-20562-3.; Mrad, A. (2006). Ética en la investigación con modelos animales experimentales. Alternativas y las 3 RS de Russel. Una responsabilidady un compromiso ético que nos compete a todos. Revista Colombiana de Bioética, 1(1): 163-183.; NRC - National Research Council, (1994). Nutrient Requirements of Poultry. (9th rev. ed.). Washington, DC: National Academy Press.; Rath, N.C., Huff, W.E., Bayyari, G.R. & Balog, J.M. (1998). Cell death in avian tibial dyschondroplasia. Avian Diseases, 42(1): 72–79.; Rath, N.C., Huff, W.E., Balog, J.M. & Huff, G.R. (2004). Comparative efficacy of different dithiocarbamates to induce tibial dyschondroplasia in poultry. Poultry Science, 83(2): 266–274. doi: https://doi.org/10.1093/ps/83.2.266; Rath, N.C., Kannan, L., Pillai, P.B., Huff, W.E., Huff, G.R., Horst, R.L. & Emmert, J.L., (2007). Evaluation of the efficacy of vitamin D3 or its metabolites on thiram-induced tibial dyschondroplasia in chickens. Research in Veterinary Science, 83(2): 244–250. doi: https://doi.org/10.1016/j.rvsc.2006.12.008; Rostagno, H.S., Albino, L.F.T., Donzele, J.L., Gomes, P.C., Oliveira, R.F, Lopes, D.C., . & Euclides, R.F. (2011). Tabelas brasileiras para aves e suínos: composição de alimentos e exigências nutricionais. (3ra ed.). Viçosa, Brasil: MG, Universidade Federal de Viçosa.; Saif, Y.M., Fadly, A.M., Glisson, J.R., Mcdougald, L.R., Nolan, L.K. & Swayne, D.E. (2008). Diseases of poultry. (12th ed.). Ames, Iowa: Blackwell Publishing.; Takita, T.S., Gonzales, E., Loddi, M.M. & Ramos, A.A. (1998). Métodos de avaliação de discondroplasia tibial em frangos de corte. In: Conferência Apinco de Ciência e Tecnologia Avícola, Anais. Campinas: Facta.; Thorp, B.H., Whitehead, C.C. & Rennie, J.S. (1991). Avian tibial dyschondroplasia: a comparison of the incidence and severity as assessed by gross examination and histopathology. Research in Veterinary Science, 51(1): 48–54. doi: https://doi.org/10.1016/0034-5288(91)90030-R; Thorp, B.H., Ducro, B., Whitehead, C.C., Farquharson, C. & Sorensen, P. (1993). Avian tibial dyschondroplasia: the interaction of genetic selection and dietary 1,25 dihydroxycholecalciferol. Avian Pathology, 22(2): 311–324. doi: https://doi.org/10.1080/03079459308418923; Thorp, B.H. (1994). Skeletal disorders in the fowl: a review. Avian Pathology, 23(2): 203–236. doi: https://doi.org/10.1080/03079459408418991; Thorp, B.H., Dick, L., Jefferies, D., Houston, B. & Wilson, J. (1997). An assessment of the efficacy of the lixiscope for the detection of tibial dyschondroplasia. Avian Pathology, 26(1): 97–104. doi: https://doi.org/10.1080/03079459708419197; Tian, W.X., Li, J.K., Qin, P., Wang, R., Ning, G.B., Qiao, J.G., … & Guo, D.Z. (2013). Screening of differentially expressed genes in the growth plate of broiler chickens with Tibial Dyschondroplasia by microarray analysis. Bio Med Central Genomics, 14(1): 276. doi: https://dx.doi.org/10.1186%2F1471-2164-14-276.; Tselepis, C., Kwan, A.P.L., Thornton, D. & Sheehan, J. (2000). The biochemical characterization of aggrecan from normal and tibialdyschondroplasic chicken growth-plate cartilage. Biochemical Journal, 351(2): 517–525.; Whitehead, C.C. (1995). The role of vitamin D metabolites in the prevention of tibial dyschondroplasia. Animal Feed Science and Technology, 53(2): 205–210. doi: https://doi.org/10.1016/0377-8401(95)02013-P; Whitehead, C.C. (2009). Factores nutricionales que influyen en los problemas óseos actuales de los broilers. Memorias XLVI Simposio científico de avicultura. Zaragoza.; Zhang, J.P., Deng, Y.F., Zhou, Z.L. & Hou, J.F. (2013). Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia. Poultry Science, 92(12): 3214–3227. doi:10.3382/ps.2013-03420.; Zhang, H., Mehmood, K., Li, K., Rehman, M., Jiang, X., Huang, S., Wang, L., Zhang, L., . & Li, J. (2018). Icariin ameliorate thiraminduced tibial dyschondroplasia via regulation of WNT4 and VEGF Expression in broiler chickens. Frontiers in Pharmacology, 9(1):123. doi:10.3389/fphar.2018.00123; Zhang, J., Huang, S., Tong, X., Zhang, L., Jiang, X., Zhang,H., Mehmood, K., & Li, J. (2019). Chlorogenic Acid Alleviates ThiramInduced Tibial Dyschondroplasia by Modulating Caspases, BECN1 Expression and ECM Degradation. International Journal of Molecular Sciences, 20(13):3160. doi:10.3390/ijms20133160; https://revistasojs.ucaldas.edu.co/index.php/boletincientifico/article/view/327/259; https://revistasojs.ucaldas.edu.co/index.php/boletincientifico/article/view/327

الاتاحة: https://revistasojs.ucaldas.edu.co/index.php/boletincientifico/article/view/327
https://doi.org/10.17151/bccm.2020.24.1.5

المؤلفون: Priolo, Manuela, Schanze, Denny, Tatton-Brown, Katrin, Mulder, Paul A, Tenorio, Jair, Kooblall, Kreepa, Hernández Acero, Inés, Alkuraya, Fowzan S, Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K, Cole, Trevor, Coubes, Christine, Dapía, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H, Fahrner, Jill A, Foster, Alison, García González, Noelia, Huber, Ilka, Iascone, Maria, Kaiser, Ann-Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M, Mammì, Corrado, Mathijssen, Inge B, McKee, Shane, Menke, Leonie A, Mirzaa, Ghayda M, Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E, Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S, Price, Sue, Salter, Claire, Santos-Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw-Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M, Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V, Zenker, Martin, Hennekam, Raoul C

المصدر: Human Mutation 2018; 39(9):1226-1237

مصطلحات موضوعية: Anomalías Múltiples, Adolescente, Adulto, Enfermedades del Desarrollo Óseo, Niño, Preescolar, Deleción Cromosómica, Hipotiroidismo Congénito, Anomalías Craneofaciales, Discapacidades del Desarrollo, Exones, Femenino, Deformidades Congénitas de la Mano, Humanos, Discapacidad Intelectual, Masculino, Megalencefalia, Mutación Missense, Factores de Transcripción NFI, Fenotipo, Displasia Septo-Óptica, Síndrome de Sotos, Adulto Joven

وصف الملف: pdf

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; datasets; Human mutation; http://sgc.anlis.gob.ar/handle/123456789/1977

الاتاحة: http://sgc.anlis.gob.ar/handle/123456789/1977
https://doi.org/10.1002/humu.23563

المؤلفون: Priolo, Manuela, Schanze, Denny, Tatton-Brown, Katrin, Mulder, Paul A, Tenorio, Jair, Kooblall, Kreepa, Hernández Acero, Inés, Alkuraya, Fowzan S, Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K, Cole, Trevor, Coubes, Christine, Dapía, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H, Fahrner, Jill A, Foster, Alison, García González, Noelia, Huber, Ilka, Iascone, Maria, Kaiser, Ann-Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M, Mammì, Corrado, Mathijssen, Inge B, McKee, Shane, Menke, Leonie A, Mirzaa, Ghayda M, Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E, Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S, Price, Sue, Salter, Claire, Santos-Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw-Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M, Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V, Zenker, Martin, Hennekam, Raoul C

المصدر: Human Mutation 2018; 39(9):1226-1237

مصطلحات موضوعية: Anomalías Múltiples, Adolescente, Adulto, Enfermedades del Desarrollo Óseo, Niño, Preescolar, Deleción Cromosómica, Hipotiroidismo Congénito, Anomalías Craneofaciales, Discapacidades del Desarrollo, Exones, Femenino, Deformidades Congénitas de la Mano, Humanos, Discapacidad Intelectual, Masculino, Megalencefalia, Mutación Missense, Factores de Transcripción NFI, Fenotipo, Displasia Septo-Óptica, Síndrome de Sotos, Adulto Joven

وصف الملف: pdf

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; datasets; Human mutation; http://sgc.anlis.gob.ar/handle/123456789/1977

الاتاحة: http://sgc.anlis.gob.ar/handle/123456789/1977
https://doi.org/10.1002/humu.23563

المؤلفون: Algora Hernández, Ana Esther, Taboada Lugo, Noel, Rodríguez Royero, Lourdes, Anoceto Armiñana, Eliecer

المصدر: Acta Médica del Centro; Vol. 9, No. 1 (2015): enero-marzo; 44-49 ; 2709-7927

مصطلحات موضوعية: prenatal diagnosis, bone diseases, developmental, osteochondrodysplasias, short rib-polydactyly syndrome, diagnóstico prenatal, enfermedades del desarrollo óseo, osteocondrodisplasias, síndrome de costilla pequeña y polidactilia

وصف الملف: text/html; application/pdf

Relation: https://revactamedicacentro.sld.cu/index.php/amc/article/view/216/370; https://revactamedicacentro.sld.cu/index.php/amc/article/view/216/352; Lantigua CA. Defectos congénitos de origen genético y ambiental. En: Introducción a la Genética Médica. La Habana: Ciencias Médicas; 2011. p. 306-41.; Cruz M, Bosh J. Síndromes con alteración de los huesos tubulares y de la columna vertebral. En: Atlas de síndromes pediátricos. Barcelona: Espaxs; 1998. p. 316-61.; Oliva RJA. Malformaciones del sistema músculo esquelético. En: Ultrasonografía diagnóstica fetal, obstétrica y ginecológica. La Habana: Ciencias Médicas; 2010. p. 195-219.; Kenneth LJ. Smith's recognizable patterns of human malformation. Philadelphia: Elsevier Saunder; 2006. p. 378-81.; Saldino-Noonan síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263560?search=263560&highlight=263560; Majewski syndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263520?search=263520&highlight=263520; Verma-Naumoff síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263510?search=263510&highlight=263510; Beermer-Langer síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/269860?search=269860&highlight=269860; Worman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, Lemerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet. 2011 May;155(5):943-68.; Tonni G, Palmisano M, Ventura A, Grisolia G, Baffico AM, Pattacini P, et al. Majewski Syndrome (short rib polydactyly type II): Prenatal diagnosis and histological features of condral growth plate, liver and kidneys. Cong Anomalies. 2014 Nov;54(4):233-39. doi:10.1111/cga.12066.; https://revactamedicacentro.sld.cu/index.php/amc/article/view/216

الاتاحة: https://revactamedicacentro.sld.cu/index.php/amc/article/view/216

المؤلفون: Algora Hernández, Ana Esther, Taboada Lugo, Noel, Rodríguez Royero, Lourdes, Anoceto Armiñana, Eliecer

المصدر: Acta Médica del Centro; Vol. 9, No. 1 (2015): enero-marzo; 44-49 ; 2709-7927

مصطلحات موضوعية: prenatal diagnosis, bone diseases, developmental, osteochondrodysplasias, short rib-polydactyly syndrome, diagnóstico prenatal, enfermedades del desarrollo óseo, osteocondrodisplasias, síndrome de costilla pequeña y polidactilia

وصف الملف: text/html; application/pdf

Relation: http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/216/370; http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/216/352; Lantigua CA. Defectos congénitos de origen genético y ambiental. En: Introducción a la Genética Médica. La Habana: Ciencias Médicas; 2011. p. 306-41.; Cruz M, Bosh J. Síndromes con alteración de los huesos tubulares y de la columna vertebral. En: Atlas de síndromes pediátricos. Barcelona: Espaxs; 1998. p. 316-61.; Oliva RJA. Malformaciones del sistema músculo esquelético. En: Ultrasonografía diagnóstica fetal, obstétrica y ginecológica. La Habana: Ciencias Médicas; 2010. p. 195-219.; Kenneth LJ. Smith's recognizable patterns of human malformation. Philadelphia: Elsevier Saunder; 2006. p. 378-81.; Saldino-Noonan síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263560?search=263560&highlight=263560; Majewski syndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263520?search=263520&highlight=263520; Verma-Naumoff síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263510?search=263510&highlight=263510; Beermer-Langer síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/269860?search=269860&highlight=269860; Worman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, Lemerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet. 2011 May;155(5):943-68.; Tonni G, Palmisano M, Ventura A, Grisolia G, Baffico AM, Pattacini P, et al. Majewski Syndrome (short rib polydactyly type II): Prenatal diagnosis and histological features of condral growth plate, liver and kidneys. Cong Anomalies. 2014 Nov;54(4):233-39. doi:10.1111/cga.12066.; http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/216

الاتاحة: http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/216

المؤلفون: Zarante, Am, Suárez-Obando, Fernando, Acosta, Jc

مصطلحات موضوعية: Poiquilodermia congénita, RECQL4 helicase, Genodermatosis, Síndrome Rothmund-Thomson, Enfermedades del desarrollo óseo, Estudios de casos, Congenital poikiloderma, Helicasa RECQL4

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: Revista Argentina de dermatología, 0325-2787, Vol. 94, Nro, 4, 2013.; https://rad-online.org.ar/2014/01/01/sindrome-de-rothmund-thomson-tipo-i-comunicacion-de-un-caso-en-poblacion-colombiana-y-revision-de-la-literatura/; http://hdl.handle.net/20.500.12495/2690

الاتاحة: https://hdl.handle.net/20.500.12495/2690

المؤلفون: León Torres, William Alexander

المصدر: Especialización en Medicina Interna de Pequeños Animales

مصطلحات موضوعية: Antibióticos, Tratamiento, Enfermedades del desarrollo oseo, Fracturas, Veterinaria

وصف الملف: application/pdf

Relation: https://ciencia.lasalle.edu.co/esp_medicina_pequenos_animales/27; https://ciencia.lasalle.edu.co/context/esp_medicina_pequenos_animales/article/1026/viewcontent/T78.12_L551u.pdf

الاتاحة: https://ciencia.lasalle.edu.co/esp_medicina_pequenos_animales/27
https://ciencia.lasalle.edu.co/context/esp_medicina_pequenos_animales/article/1026/viewcontent/T78.12_L551u.pdf

المؤلفون: Duque Borrero, Angela María, Escobar Roldan, Sandra

مصطلحات موضوعية: Anomalías Dentarias, Anodoncia, Dentición Mixta, Enfermedades del Desarrollo Óseo/genética

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10893/2253

الاتاحة: http://hdl.handle.net/10893/2253

المؤلفون: Pérez Betancourt, Damaris, Pérez de Alejo Rodríguez, Marta, Calero Rojas, Dorian W.

المصدر: Acta Médica del Centro; Vol. 4, No. 1 (2010): enero-marzo; 52-56 ; 2709-7927

مصطلحات موضوعية: bone diseases, developmental/etiology, diagnostic imaging, biopsy, enfermedades del desarrollo óseo/etiología, diagnóstico por imagen, biopsia

وصف الملف: application/pdf

Relation: https://revactamedicacentro.sld.cu/index.php/amc/article/view/490/657; https://revactamedicacentro.sld.cu/index.php/amc/article/view/490

الاتاحة: https://revactamedicacentro.sld.cu/index.php/amc/article/view/490

المؤلفون: Pérez Betancourt, Damaris, Pérez de Alejo Rodríguez, Marta, Calero Rojas, Dorian W.

المصدر: Acta Médica del Centro; Vol. 4, No. 1 (2010): enero-marzo; 52-56 ; 2709-7927

مصطلحات موضوعية: bone diseases, developmental/etiology, diagnostic imaging, biopsy, enfermedades del desarrollo óseo/etiología, diagnóstico por imagen, biopsia

وصف الملف: application/pdf

Relation: http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/490/657; http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/490

الاتاحة: http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/490

المؤلفون: Degiovanni Morales, Stefania

المساهمون: Múnera Ramírez, Marcela Cristina, Rodriguez Burbano, Diana Consuelo

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Scaffolds, Regeneración ósea, Nanohidroxiapatita, Puntos de carbono, Citotoxicidad, Ciencias médicas, Medicina, Tejido óseo, Enfermedades del desarrollo óseo, Enfermedades de los huesos, Ciencias médicas - Innovaciones tecnológicas, Bioingeniería, Bone regeneration, Nanohydroxyapatite, Carbon dots, Cytotoxicity

وصف الملف: application/pdf

Relation: https://repository.urosario.edu.co/handle/10336/31582; https://doi.org/10.48713/10336_31582

الاتاحة: https://repository.urosario.edu.co/handle/10336/31582
https://doi.org/10.48713/10336_31582

المؤلفون: Velasco, Harvy Mauricio, Buelvas, Lina Patricia

المصدر: Biomedica; Vol. 37 No. 2 (2017); 250-259 ; Biomédica; Vol. 37 Núm. 2 (2017); 250-259 ; 2590-7379 ; 0120-4157

مصطلحات موضوعية: enfermedades del desarrollo óseo, esqueleto, genética, estatura, Colombia, Bone diseases, developmental, skeleton, genetics, body height

وصف الملف: application/pdf; text/html

Relation: https://revistabiomedica.org/index.php/biomedica/article/view/2980/3529; https://revistabiomedica.org/index.php/biomedica/article/view/2980/3578; Wit JM, Clayton PE, Rogol D, Savage MO, Saenger PH, Cohen P. Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res. 2008;18:89-110. http://dx.doi.org/10.1016/j.ghir.2007.11.004.; Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, et al. Rare copy number variants are a common cause of short stature. PLoS Genet. 2013;9:1-11.; Strufaldi MWL, Silva EM, Puccini RF. Follow-up of children and adolescents with short stature: The importance of the growth rate. São Paulo Med J. 2005;123:128-33. http://dx.doi.org/10.1590/S1516-31802005000300008; Neufeld L, Rubio M, Pinzón L, Tolentino L. Nutrición en Colombia: estrategia de país 2011-2014. Banco Interamericano de Desarrollo. 2010. Fecha de consulta: 1° de mayo de 2015. Disponible en: http://idbdocs.iadb.org/wsdocs/getdocument.aspx?docnum=35791560.; Fonseca Z, Heredia A, Ocampo P, Forero Y, Sarmiento O, Álvarez M, et al. Encuesta Nacional de Situación Nutricional en Colombia 2010. Fecha de consulta: 1° de mayo de 2015. Disponible en: http://www.icbf.gov.co/portal/page/portal/PortalICBF/Bienestar/ENSIN1/ENSIN2010/LibroENSIN2010.pdf.; Cohen P, Rogol D, Deal CL, Saenger P, Reiter EO, Ross JL, et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: A summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J; Clin Endocrinol Metab. 2008;93:4210-7. http://dx.doi.org/10.1210/jc.2008-0509; Wit JM, Kiess W, Mullis P. Genetic evaluation of short stature. Best Pract Res Clin Endocrinol Metab. 2011;25:1-17. http://dx.doi.org/10.1016/j.beem.2010.06.007; Acosta J, Zarante I. Consulta de genética médica en un hospital de segundo nivel en Colombia: impacto médico y social. Revista Salud Bosque. 2011;1:25-32.; Pombo M, Castro L, Rodríguez PC. El niño de talla baja. Protoc Diagn Ter Pediatr. 2011:1:236-54.; Del Toro KY, Durán P, Llano M. Enfoque del paciente con talla baja en pediatría. CAAP. 2008;7:28-37. Fecha de consulta: 1° de mayo de 2015. Disponible en: https://scp.com.co/precop-old/precop_files/modulo_7_vin_2/28-37%20Enfoque.pdf; Wit JM, Ranke MB, Kelnar CJ. Editores. The ESPE classification of paediatric endocrine diagnoses. Basel: Editorial Karger; 2007. p. 129.; Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet. 2002; 113:65-77. http://dx.doi.org/10.1002/ajmg.10828; Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007;143:1-18. http://dx.doi.org/10.1002/ajmg.a.31483; Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155:943-68. http://dx.doi.org/10.1002/ajmg.a.33909; Grimberg A, Feemster KA, Pati S, Ramos M, Grundmeier R, Cucchiara AJ, et al. Medically underserved girls receive less evaluation for short stature. Pediatrics. 2011;127:696-702. http://dx.doi.org/10.1542/peds.2010-1563.; Esmer C, Urraca N. Patient follow-up is a major problem at genetics clinics. Am J Med Genet A. 2004;125:162-6. http://dx.doi.org/10.1002/ajmg.a.20303; Seaver LH, Irons M, American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee. ACMG practice guideline: Genetic evaluation of short stature. Genet Med. 2009;11:465-70. http://dx.doi.org/10.1097/GIM.0b013e3181a7e8f8; Sewell MD, Chahal A, Al-Hadithy N, Blunn GW, Molloy S, Hashemi-Nejad A. Genetic skeletal dysplasias: A guide to diagnosis and management. J Back Musculoskelet Rehabil. 2015;28:575-90. http://dx.doi.org/10.3233/BMR-140558; Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J, et al. Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients. Eur J Endocrinol. 2014;170:677-84. http://dx.doi.org/10.1530/EJE-13-0864; Majcher A, Witkowska-Sędek E, Bielecka-Jasiocha J, Pyrzak B. Causes of short stature in children in relation to their midparental heigh. Medycyna Wieku Rozwojowego. 2012;16:89-95.; Gómez J, Fernández N, Páez P, Zarante I. Detección de anomalías congénitas en 12.760 nacimientos de tres hospitales en la Ciudad de Bogotá, Colombia, 2004-2005 mediante ecografía prenatal. Rev Colomb Obstet Ginecol. 2007;58;194-201.; Konstantinidou AE, Agrogiannis G, Sifakis S, Karantanas A, Harakoglou V, Kaminopetros P, et al. Genetic skeletal disorders of the fetus and infant: Pathologic and molecular findings in a series of 41 cases. Birth Defects Res A Clin Mol Teratol. 2009;85:811-21. http://dx.doi.org/10.1002/bdra.20617; Arkader A. Multiple hereditary exostoses: Its burden on childhood and beyond: Commentary on an article by A.L. Goud, MD, et al.: “Pain, physical and social functioning,and quality of life in individuals with multiple hereditary exostoses in The Netherlands. A national cohort study”. J Bone Joint Surg Am. 2012;94:e81. http://dx.doi.org/10.2106/JBJS.L.00277; Zargar AH, Laway BA, Masoodi SR, Wani AI, Salahuddin M. An etiological profile of short stature in the Indian subcontinent. J Paediatr Child Health. 1998;34:571-6. http://dx.doi.org/10.1046/j.1440-1754.1998.00308.x; Sultan M, Afzal M, Qureshi SM, Aziz S, Lutfullah M, Khan SA, et al. Etiology of short stature in children. J Coll Physicians Surg Pak. 2008;18:493-7. http://dx.doi.org/08.2008/JCPSP.493497; https://revistabiomedica.org/index.php/biomedica/article/view/2980

الاتاحة: https://revistabiomedica.org/index.php/biomedica/article/view/2980

المؤلفون: Mucci, Juan Marcos

المساهمون: Rozenfeld, Paula, Delpino, María Victoria

مصطلحات موضوعية: Ciencias Exactas, Biología, Genética, Enfermedad de Gaucher, Enfermedades del Desarrollo Óseo

وصف الملف: application/pdf

Relation: http://sedici.unlp.edu.ar/handle/10915/44681; https://doi.org/10.35537/10915/44681

الاتاحة: http://sedici.unlp.edu.ar/handle/10915/44681
https://doi.org/10.35537/10915/44681

المؤلفون: Molina Carpio, Carlos Enrique

المساهمون: Navarrete Mejía, Pedro Javier

المصدر: Repositorio Académico USMP ; Universidad San Martín de Porres - USMP

مصطلحات موضوعية: Enfermedades del Desarrollo Óseo, Colposcopia, Displasias cervicales

وصف الملف: application/pdf; 67 p.

Relation: https://hdl.handle.net/20.500.12727/7054

الاتاحة: https://hdl.handle.net/20.500.12727/7054