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Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28

dc.contributor.authorLegius, Ericen_US
dc.contributor.authorKaepernick, L.en_US
dc.contributor.authorHiggins, J. V.en_US
dc.contributor.authorGlover, Thomas W.en_US
dc.date.accessioned2010-04-01T15:37:59Z
dc.date.available2010-04-01T15:37:59Z
dc.date.issued1994-04en_US
dc.identifier.citationLegius, E.; Kaepernick, L.; Higgins, J. V.; Glover, T. W. (1994). "Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28." Clinical Genetics 45(4): 165-168. <http://hdl.handle.net/2027.42/66121>en_US
dc.identifier.issn0009-9163en_US
dc.identifier.issn1399-0004en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/66121
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8062432&dopt=citationen_US
dc.format.extent338287 bytes
dc.format.extent3110 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Publishing Ltden_US
dc.rights1994 Blackwell Munksgaarden_US
dc.subject.otherCarrier Detectionen_US
dc.subject.otherHSASen_US
dc.subject.otherL1CAMen_US
dc.subject.otherLinkage Analysisen_US
dc.subject.otherMASA Syndromeen_US
dc.subject.otherX-linked Hydrocephalusen_US
dc.titleFine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28en_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumUniversity of Michigan, Department of Pediatric Genetics, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumMichigan State University, Department of Pediatrics, USAen_US
dc.contributor.affiliationotherCentre for Human Genetics, Leuven, Belgiumen_US
dc.identifier.pmid8062432en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/66121/1/j.1399-0004.1994.tb04016.x.pdf
dc.identifier.doi10.1111/j.1399-0004.1994.tb04016.xen_US
dc.identifier.sourceClinical Geneticsen_US
dc.identifier.citedreferenceCurtis D. A program to draw pedigrees using LINKAGE or LINKSYS data files. Ann Hum Genet 1990 ; 54 : 365 – 367.en_US
dc.identifier.citedreferenceFryns J-P, Spaepen A, Cassiman JJ, Van Den Berghe H. X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Silvius: variable expression of the same mutation at Xq28. J Med Genet 1991 ; 28 : 429 – 431.en_US
dc.identifier.citedreferenceKaepernick L, Legius E, Higgins J, Kapur S. Clinical aspects of the MASA syndrome in a large family, including expressing females. Clin Genet 1994 ; 45 : 181 – 185.en_US
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dc.identifier.citedreferenceLalloz MRA, McVey JH, Pattinson JK, Tuddenham EGD. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 1991 ; 338 : 207 – 211.en_US
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dc.identifier.citedreferenceMacias VR, Day DW, King TE, Wilson GN. Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. Am J Med Genet 1992 ; 43 : 408 – 414.en_US
dc.identifier.citedreferenceMullenbach R, Lagoda PJL, Welter C. An efficient salt-chloro-form extraction of DNA from blood and tissues. TIG 1989 ; 84 : 35 – 40.en_US
dc.identifier.citedreferenceRietschel M, Friedl W, Uhlhaas S, Neugebauer M, Heimann D, Zerres K. MASA syndrome: clinical variability and linkage analysis. Am J Med Genet 1991 ; 41 : 10 – 14.en_US
dc.identifier.citedreferenceRosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet 1992 ; 2 : 107 – 112.en_US
dc.identifier.citedreferenceSchrander-Strumpel C, Legius E, Fryns JP, Cassiman JJ. MASA syndrome: new clinical features and linkage analysis using DNA probes. J Med Genet 1990 ; 27 : 688 – 692.en_US
dc.identifier.citedreferenceWillems PJ, Dijkstra I, Van der Auwera BJ, Vits L, Coucke P, Raeymaekers P, van Broeckhoven C, Consalez GG, Freeman SB, Warren ST, Brouwer OF, Brunner HG, Renier WO, van Elsen AF, Dumon JE. Assignment of X-linked hydrocephalus to Xq28 by linkage analysis. Genomics 1990 ; 8 : 367 – 370.en_US
dc.identifier.citedreferenceWillems PJ, Vits L, Raeymaekers P, Beuten J, Coucke P, Holden JJA, van Broeckhoven C, Warren ST, Sagi M, Robinson D, Dennis N, Friedman KJ, Magnay D, Lyonnet S, White BN, Wittwer BH, Aylsworth AS, Reicke S. Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Am J Hum Genet 1992 ; 51 : 307 – 315.en_US
dc.identifier.citedreferenceWinter RM, Davies KE, Bell MV, Huson SM, Patterson MN. MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet 1989 ; 82 : 367 – 370.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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