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1,107 results
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SMA genes: deleted and duplicated.
Mahadevan MS, Korneluk RG, Roy N, MacKenzie A, Ikeda J. Mahadevan MS, et al. Among authors: mackenzie a. Nat Genet. 1995 Feb;9(2):112-3. doi: 10.1038/ng0295-112. Nat Genet. 1995. PMID: 7719336 No abstract available.
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
Daniels RJ, Campbell L, Rodrigues NR, Francis MJ, Morrison KE, McLean M, MacKenzie A, Ignatius J, Dubowitz V, Davies KE. Daniels RJ, et al. Among authors: mackenzie a. J Med Genet. 1995 Feb;32(2):93-6. doi: 10.1136/jmg.32.2.93. J Med Genet. 1995. PMID: 7760328 Free PMC article.
Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes.
Liston P, Roy N, Tamai K, Lefebvre C, Baird S, Cherton-Horvat G, Farahani R, McLean M, Ikeda JE, MacKenzie A, Korneluk RG. Liston P, et al. Among authors: mackenzie a. Nature. 1996 Jan 25;379(6563):349-53. doi: 10.1038/379349a0. Nature. 1996. PMID: 8552191
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. Pilia G, et al. Among authors: mackenzie a. Nat Genet. 1996 Mar;12(3):241-7. doi: 10.1038/ng0396-241. Nat Genet. 1996. PMID: 8589713
Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.
Somerville MJ, Hunter AG, Aubry HL, Korneluk RG, MacKenzie AE, Surh LC. Somerville MJ, et al. Among authors: mackenzie ae. Am J Med Genet. 1997 Mar 17;69(2):159-65. Am J Med Genet. 1997. PMID: 9056553
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.
Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC. Carter TA, et al. Among authors: mackenzie a. Hum Mol Genet. 1997 Feb;6(2):229-36. doi: 10.1093/hmg/6.2.229. Hum Mol Genet. 1997. PMID: 9063743
FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13.
Rajcan-Separovic E, Mahadevan MS, Lefebvre C, Besner-Johnston A, Ikeda JE, Korneluk RG, MacKenzie A. Rajcan-Separovic E, et al. Among authors: mackenzie a. Cytogenet Cell Genet. 1996;75(4):243-7. doi: 10.1159/000134493. Cytogenet Cell Genet. 1996. PMID: 9067434
Elevation of neuronal expression of NAIP reduces ischemic damage in the rat hippocampus.
Xu DG, Crocker SJ, Doucet JP, St-Jean M, Tamai K, Hakim AM, Ikeda JE, Liston P, Thompson CS, Korneluk RG, MacKenzie A, Robertson GS. Xu DG, et al. Among authors: mackenzie a. Nat Med. 1997 Sep;3(9):997-1004. doi: 10.1038/nm0997-997. Nat Med. 1997. PMID: 9288726
Reply to Burghes.
MacKenzie AE. MacKenzie AE. Am J Hum Genet. 1998 Feb;62(2):485-8. doi: 10.1086/301723. Am J Hum Genet. 1998. PMID: 9463330 Free PMC article. No abstract available.
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.
Tsilfidis C, MacKenzie AE, Mettler G, Barceló J, Korneluk RG. Tsilfidis C, et al. Among authors: mackenzie ae. Nat Genet. 1992 Jun;1(3):192-5. doi: 10.1038/ng0692-192. Nat Genet. 1992. PMID: 1303233
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