| 1 | HSAS, L1CAM, MASA
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| Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.
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| Fernández RM, Núñez-Torres R, García-Díaz L, de Agustín JC, Antiñolo G, Borrego S.
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| Am J Med Genet A 158A(4):816-20. doi: 10.1002/ajmg.a.35244. Epub 2012 Feb 17.
2012
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| 2 | L1CAM, MASA
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| Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
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| Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM.
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| J Med Genet 47(3):169-75. Epub 2009 Oct 20.PMID: 19846429 2010
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| 3 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 4 | HSAS, L1CAM, MASA
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| Genotype-phenotype correlation in L1 associated diseases.
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| Fransen E, et al.
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| J Med Genet 35 : 399-404. 1998
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| 5 | HSAS, L1CAM, MASA, SPG1
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| The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
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| Fransen E, et al.
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| Am J Med Genet 64 : 73-77. 1996
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| 6 | L1CAM, HSAS, MASA
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| New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
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| Jouet M, et al.
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| Am J Hum Genet 56 : 1304-1314. 1995
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| 7 | MASA, SPG1, HSAS, L1CAM
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| Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
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| Ruiz JC, et al.
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| J Med Genet 32 : 549-552. 1995
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| 8 | L1CAM, SPG1, HSAS, MASA
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| Mutations in the cell adhesion molecule L1 cause mental retardation.
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| Wong EV, et al.
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| Trends Neurosci 18 : 168-172. 1995
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| 9 | MASA
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| The spectrum of complicated spastic paraplegia, Masa syndrome and X-linked hydrocephalus. Contribution of DNA linkage analysis in genetic counseling of individual families.
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| Schrander-Stumpel C, et al.
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| Genet Couns 5 : 1-10. 1994
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| 10 | MASA
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| Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.
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| Legius E, et al.
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| Clin Genet 45 : 165-168. 1994
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| 11 | MASA, L1CAM, HSAS
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| MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
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| Vits L, et al.
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| Nat Genet 7 : 408-413. 1994
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| 12 | MASA, L1CAM, HSAS, SPG1
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| X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
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| Jouet M, et al.
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| Nat Genet 7 : 402-407. 1994
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| 13 | MASA, HSAS, L1CAM
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| X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
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| Fransen E, et al.
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| Hum Mol Genet 3 : 2255-2256. 1994
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| 14 | MASA
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| Clasped-thumb mental retardation (MASA) syndrome : confirmation of linkage to Xq28.
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| Macias VR, et al.
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| Am J Med Genet 43 : 408-414. 1992
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| 15 | MASA
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| X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius : variable expression of the same mutation at the Xq28.
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| Fryns JP, et al.
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| J Med Genet 28 : 429-432. 1991
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| 16 | MASA
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| MASA syndrome : new clinical features and linkage analysis using DNA probes.
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| Schrander-Stumpel C, et al.
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| J Med Genet 27 : 688-692. 1990
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| 17 | MASA
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| MASA syndrome: further clinical delineation and chromosomal localisation.
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| Winter RM, et al.
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| Hum Genet 82 : 367-370. 1989
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