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Large genomic rearrangements in MECP2.
Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M. Ravn K, et al. Among authors: hulten m. Hum Mutat. 2005 Mar;25(3):324. doi: 10.1002/humu.9320. Hum Mutat. 2005. PMID: 15712379
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME. Charman T, et al. Among authors: hulten m. Eur J Hum Genet. 2005 Oct;13(10):1121-30. doi: 10.1038/sj.ejhg.5201471. Eur J Hum Genet. 2005. PMID: 16077736
Guidelines for reporting clinical features in cases with MECP2 mutations.
Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. Kerr AM, et al. Among authors: hulten m. Brain Dev. 2001 Jul;23(4):208-11. doi: 10.1016/s0387-7604(01)00193-0. Brain Dev. 2001. PMID: 11376997
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. Among authors: hulten m. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. Vacca M, et al. Among authors: hulten m. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884
256 results