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268 results

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Page 1
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: macdonald f. 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: macdonald f. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884
Rapid and simple prenatal DNA diagnosis of Down's syndrome.
Verma L, Macdonald F, Leedham P, McConachie M, Dhanjal S, Hultén M. Verma L, et al. Among authors: macdonald f. Lancet. 1998 Jul 4;352(9121):9-12. doi: 10.1016/S0140-6736(97)11090-X. Lancet. 1998. PMID: 9800738
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.
Germline APC mutation familial adenomatous polyposis in Indian family.
Wallis Y, MacDonald F, Rindl PM, Hulten M, McKeown C, Morton DG, Keighley MR, Fodde R, van der Luijt R, Khan PM. Wallis Y, et al. Among authors: macdonald f. Lancet. 1992 Oct 24;340(8826):1035. doi: 10.1016/0140-6736(92)93045-o. Lancet. 1992. PMID: 1357420 No abstract available.
Familial adenomatous polyposis.
Macdonald F. Macdonald F. Methods Mol Med. 2004;92:245-66. doi: 10.1385/1-59259-432-8:245. Methods Mol Med. 2004. PMID: 14733316 No abstract available.
268 results