المؤلفون: Plotkin S. R., Messiaen L., Legius E., Pancza P., Avery R. A., Blakeley J. O., Babovic-Vuksanovic D., Ferner R., Fisher M. J., Friedman J. M., Giovannini M., Gutmann D. H., Hanemann C. O., Kalamarides M., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., MacCollin M., Papi L., Rauen K. A., Riccardi V., Schorry E., Smith M. J., Stemmer-Rachamimov A., Stevenson D. A., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Gomes A., Halliday D., Helen Hanson Arvid Heiberg C. H., Joly P., Jordan J. T., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., Mallucci C., Merker V. L., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Wolkenstein P., Evans D. G.

المساهمون: Plotkin, S. R., Messiaen, L., Legius, E., Pancza, P., Avery, R. A., Blakeley, J. O., Babovic-Vuksanovic, D., Ferner, R., Fisher, M. J., Friedman, J. M., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Kalamarides, M., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Maccollin, M., Papi, L., Rauen, K. A., Riccardi, V., Schorry, E., Smith, M. J., Stemmer-Rachamimov, A., Stevenson, D. A., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Gomes, A., Halliday, D., Helen Hanson Arvid Heiberg, C. H., Joly, P., Jordan, J. T., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Mallucci, C., Merker, V. L., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Wolkenstein, P., Evans, D. G.

مصطلحات موضوعية: NF2, Neurofibromatosi, SMARCB1, Schwannomatosi, lztr1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35674741; info:eu-repo/semantics/altIdentifier/wos/WOS:000855692500017; volume:24; issue:9; firstpage:1967; lastpage:1977; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3473739Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132738125; https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://hdl.handle.net/11577/3473739Test
https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest

المؤلفون: Legius E., Messiaen L., Wolkenstein P., Pancza P., Avery R. A., Berman Y., Blakeley J., Babovic-Vuksanovic D., Cunha K. S., Ferner R., Fisher M. J., Friedman J. M., Gutmann D. H., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., Peltonen S., Rauen K. A., Riccardi V., Schorry E., Stemmer-Rachamimov A., Stevenson D. A., Tadini G., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Gomes A., Jordan J. T., Mautner V., Merker V. L., Smith M. J., Stevenson D., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Giovannini M., Halliday D., Hammond C., Hanemann C. O., Hanson H., Heiberg A., Joly P., Kalamarides M., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., MacCollin M., Mallucci C., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Papi L., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Evans D. G., Plotkin S. R.

المساهمون: Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Peltonen, S., Rauen, K. A., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D. A., Tadini, G., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Gomes, A., Jordan, J. T., Mautner, V., Merker, V. L., Smith, M. J., Stevenson, D., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Giovannini, M., Halliday, D., Hammond, C., Hanemann, C. O., Hanson, H., Heiberg, A., Joly, P., Kalamarides, M., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Maccollin, M., Mallucci, C., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Papi, L., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Evans, D. G., Plotkin, S. R.

مصطلحات موضوعية: Cafe-au-Lait Spot, Consensu, Genetic Testing, Human, Neurofibromatosis 1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34012067; info:eu-repo/semantics/altIdentifier/wos/WOS:000652090700001; volume:23; issue:8; firstpage:1506; lastpage:1513; numberofpages:8; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11577/3412674Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106312908

الإتاحة: https://doi.org/10.1038/s41436-021-01170-5Test
http://hdl.handle.net/11577/3412674Test

المؤلفون: Ostrow, K L, Bergner, A L, Blakeley, J, Evans, Gareth, Ferner, R, Friedman, J M, Harris, G J, Jordan, J T, Korf, B, Langmead, S, Leschziner, G, Mautner, V, Merker, V L, Papi, L, Plotkin, S R, Slopis, J M, Smith, Miriam J, Stemmer-Rachamimov, A, Yohay, K, Belzberg, A J

المصدر: Ostrow , K L , Bergner , A L , Blakeley , J , Evans , G , Ferner , R , Friedman , J M , Harris , G J , Jordan , J T , Korf , B , Langmead , S , Leschziner , G , Mautner , V , Merker , V L , Papi , L , Plotkin , S R , Slopis , J M , Smith , M J , Stemmer-Rachamimov , A , Yohay , K & Belzberg , A J 2016 , ' Creation of an international registry to support ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/ajmg.a.38024Test
https://research.manchester.ac.uk/en/publications/4ad869fe-54a2-4b05-bd7b-aed03ade0744Test
https://pure.manchester.ac.uk/ws/files/48338107/Ostrow_et_al_AJMGA_2016_authors_accepted_version.pdfTest

المؤلفون: Smith, M J, Esparza, S, Merker, V L, Muzikansky, A, Bredella, M A, Harris, G J, Kassarjian, A, Cai, W, Walker, J A, Mautner, V F, Plotkin, S R

المصدر: Smith , M J , Esparza , S , Merker , V L , Muzikansky , A , Bredella , M A , Harris , G J , Kassarjian , A , Cai , W , Walker , J A , Mautner , V F & Plotkin , S R 2013 , ' Plasma S100beta is not a useful biomarker for tumor burden in neurofibromatosis ' , Clin Biochem , vol. 46 , no. 7-8 , pp. 698-700 . https://doi.org/S0009-9120Test(12)00695-9 [pii] 10.1016/j.clinbiochem.2012.12.007

مصطلحات موضوعية: Adult, Female, Humans, Male, Middle Aged, Nerve Growth Factors/*blood, Neurofibromatoses/diagnosis/*pathology, Neurofibromatosis 1/pathology, Neurofibromatosis 2/pathology, Neuroma, Acoustic/pathology, S100 Calcium Binding Protein beta Subunit, S100 Proteins/*blood, Tumor Burden

الإتاحة: https://doi.org/10.1016/j.clinbiochem.2012.12.007Test
https://research.manchester.ac.uk/en/publications/ea766663-61f4-4290-81fa-893320f42866Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=23261835Test

المؤلفون: Ostrow, K. L., Bergner, A. L., Blakeley, J., Evans, D. G., Ferner, R., Friedman, J. M., Harris, G. J., Jordan, J. T., Korf, B., Langmead, S., Leschziner, G., Mautner, V., Merker, V. L., Papi, L., Plotkin, S. R., Slopis, J. M., Smith, M. J., Stemmer‐Rachamimov, A., Yohay, K., Belzberg, A. J.

المصدر: American Journal of Medical Genetics. Part A; Feb2017, Vol. 173 Issue 2, p407-413, 7p

المؤلفون: Farschtschi, S.¹, Merker, V. L.², Wolf, D.³, Schuhmann, M.⁴, Blakeley, J.³, Plotkin, S. R.², Hagel, C.⁵, Mautner, V. F.¹

المصدر: Acta Neurologica Scandinavica. Jun2016, Vol. 133 Issue 6, p475-480. 6p.

مصطلحات موضوعية: *SPINAL cord diseases, *BEVACIZUMAB, *EPENDYMOMA, *NEUROFIBROMATOSIS, *TUMOR suppressor proteins, *MONOCLONAL antibodies, *THERAPEUTICS