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79 related items for PubMed ID: 1951449
1. MASA syndrome: clinical variability and linkage analysis. Rietschel M, Friedl W, Uhlhaas S, Neugebauer M, Heimann D, Zerres K. Am J Med Genet; 1991 Oct 01; 41(1):10-4. PubMed ID: 1951449 [Abstract] [Full Text] [Related]
7. Agenesis of the corpus callosum associated with MASA syndrome. Boyd E, Schwartz CE, Schroer RJ, May MM, Shapiro SD, Arena JF, Lubs HA, Stevenson RE. Clin Dysmorphol; 1993 Oct 01; 2(4):332-41. PubMed ID: 8305964 [Abstract] [Full Text] [Related]
8. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. Nat Genet; 1994 Jul 01; 7(3):402-7. PubMed ID: 7920659 [Abstract] [Full Text] [Related]
13. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15. Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K, Ueda M, Kamiya T, Katayama Y, Nakamura A, Takashima H, Nakagawa M, Masuda M, Utsumi H, Nakamuro T, Tada K, Kurohara K, Inoue K, Koike F, Sakai T, Tsuji S, Kobayashi H. Ann Neurol; 2000 Jul 01; 48(1):108-12. PubMed ID: 10894224 [Abstract] [Full Text] [Related]
14. Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. Legius E, Kaepernick L, Higgins JV, Glover TW. Clin Genet; 1994 Apr 01; 45(4):165-8. PubMed ID: 8062432 [Abstract] [Full Text] [Related]
15. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T. Hum Mutat; 1998 Apr 01; 12(4):259-66. PubMed ID: 9744477 [Abstract] [Full Text] [Related]
20. [Linkage studies of a familial spastic paraplegia pedigree from Tibet]. Li H, Huang S, Zhu Y, La B, Bai Z, Mu Y, Fischer C, Vogel F, Lo WH. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Feb 10; 16(1):5-8. PubMed ID: 9949231 [Abstract] [Full Text] [Related] Page: [Next] [New Search]