Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mirjam H.H. van Roij"'
Autor:
Alessandra Pangrazio, Paolo Vezzoni, Cristina Sobacchi, Parag M Tamhankar, Clarisse Baumann, Daniela Melis, Edoardo Lanino, Kim Vettenranta, Michael Pusch, Elena Caldana, Edwin M. Horwitz, Franco Locatelli, Annalisa Frattini, Lamia Sfaihi Ben Mansour, Ilhan Tezcan, Ivo Bariae, Anna Villa, Mario Abinun, Paul J. Orchard, Marco Zecca, Antonio González-Meneses López, Michael Wright, Shubha R. Phadke, Ercan Mihci, Mirjam H.H. van Roij
Publikováno v:
Human Mutation, 31(1), E1071-E1080. Wiley-Liss Inc.
Human mutation 31 (2010): E1071–E1080. doi:10.1002/humu.21167
info:cnr-pdr/source/autori:Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Vil/titolo:Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations/doi:10.1002%2Fhumu.21167/rivista:Human mutation/anno:2010/pagina_da:E1071/pagina_a:E1080/intervallo_pagine:E1071–E1080/volume:31
Pangrazio, A, Pusch, M, Caldana, E, Frattini, A, Lanino, E, Tamhankar, P M, Phadke, S, Lopez, A G M, Orchard, P, Mihci, E, Abinun, M, Wright, M, Vettenranta, K, Bariae, I, Melis, D, Tezcan, I, Baumann, C, Locatelli, F, Zecca, M, Horwitz, E, Ben Mansour, L S, van Roij, M H H, Vezzoni, P, Villa, A & Sobacchi, C 2010, ' Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations ', Human Mutation, vol. 31, no. 1, pp. E1071-E1080 . https://doi.org/10.1002/humu.21167
Human mutation 31 (2010): E1071–E1080. doi:10.1002/humu.21167
info:cnr-pdr/source/autori:Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Vil/titolo:Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations/doi:10.1002%2Fhumu.21167/rivista:Human mutation/anno:2010/pagina_da:E1071/pagina_a:E1080/intervallo_pagine:E1071–E1080/volume:31
Pangrazio, A, Pusch, M, Caldana, E, Frattini, A, Lanino, E, Tamhankar, P M, Phadke, S, Lopez, A G M, Orchard, P, Mihci, E, Abinun, M, Wright, M, Vettenranta, K, Bariae, I, Melis, D, Tezcan, I, Baumann, C, Locatelli, F, Zecca, M, Horwitz, E, Ben Mansour, L S, van Roij, M H H, Vezzoni, P, Villa, A & Sobacchi, C 2010, ' Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations ', Human Mutation, vol. 31, no. 1, pp. E1071-E1080 . https://doi.org/10.1002/humu.21167
The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a394fe28a3360c3172b44852aeef37
https://doi.org/10.1002/humu.21167
https://doi.org/10.1002/humu.21167
Autor:
J.I.L.M. Verbeke, Stephen P. Robertson, David Markie, Mirjam H.H. van Roij, Kazuyuki Sugahara, M.B. Tan-Sindhunata, Timothy R. Morgan, H. Meijers-Heijboer, Shuhei Yamada, Shuji Mizumoto
Publikováno v:
American Journal of Medical Genetics Part A, 146A(18), 2376-2384. Wiley-Liss Inc.
American journal of medical genetics. Part A, 146A(18), 2376-2384. Wiley-Liss Inc.
van Roij, M H H, Mizumoto, S, Yamada, S, Morgan, T, Tan-Sindhunata, M B, Meijers-Heijboer, E J, Verbeke, J I L M, Markie, D, Sugahara, K & Robertson, S P 2008, ' Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype ', American Journal of Medical Genetics Part A, vol. 146A, no. 18, pp. 2376-2384 . https://doi.org/10.1002/ajmg.a.32482
American journal of medical genetics. Part A, 146A(18), 2376-2384. Wiley-Liss Inc.
van Roij, M H H, Mizumoto, S, Yamada, S, Morgan, T, Tan-Sindhunata, M B, Meijers-Heijboer, E J, Verbeke, J I L M, Markie, D, Sugahara, K & Robertson, S P 2008, ' Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype ', American Journal of Medical Genetics Part A, vol. 146A, no. 18, pp. 2376-2384 . https://doi.org/10.1002/ajmg.a.32482
Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53e934648df8eeb15b881965dca8d8aa
https://research.vumc.nl/en/publications/838cf17b-a062-4344-a449-0797ec0a369b
https://research.vumc.nl/en/publications/838cf17b-a062-4344-a449-0797ec0a369b
