| 1 | HSAS, L1CAM
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| Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum.
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| Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K.
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| Am J Med Genet A 158A(4):812-5. doi: 10.1002/ajmg.a.35245. Epub 2012 Feb 21.
2012
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| 2 | 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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| 3 | ACS, HSAS, L1CAM
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| Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.
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| Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S.
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| J Pediatr Surg 43(5):E13-7. Review. 2008
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| 4 | ARHGAP4, AVPR2, DIR1, HSAS, L1CAM
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| Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
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| Knops NB, Bos KK, Kerstjens M, van Dael K, Vos YJ.
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| Am J Med Genet A 146A(14):1853-8. 2008
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| 5 | DIR1, L1CAM, AVPR2, HSAS
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| Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
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| Tegay DH, Lane AH, Roohi J, Hatchwell E.
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| Am J Med Genet A 143(6):594-8. 2007
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| 6 | HSAS, L1CAM
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| Expanding the phenotypic spectrum of L1CAM-associated disease.
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| Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE.
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| Clin Genet 69(5):414-9. 2006
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| 7 | L1CAM, HSAS
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| Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
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| Hubner CA, Utermann B, Tinschert S, Kruger G, Ressler B, Steglich C, Schinzel A, Gal A.
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| Hum Mutat 23(5):526. 2004
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| 8 | HSAS, L1CAM
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| Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?
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| Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA.
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| Am J Med Genet 108(1):51-6. 2002
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| 9 | HSAS, L1CAM
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| Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
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| Finckh U, Schroder J, Ressler B, Veske A, Gal A.
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| Am J Med Genet 92(1):40-6. 2000
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| 10 | HSAS, L1CAM
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| Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
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| Sztriha L, Frossard P, Hofstra RM, Verlind E, Nork M.
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| J Child Neurol 15(4):239-43. 2000
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| 11 | HSAS, L1CAM
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| Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
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| Du JS, Bason L, Woffendin H, Zackai E, Kenwrick S.
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| Am J Med Genet 75(2):200-2. 1998
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| 12 | 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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| 13 | L1CAM, HSAS
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| A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
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| Du YZ, et al.
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| J Med Genet 35 : 456-462. 1998
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| 14 | L1CAM, HSAS
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| Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
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| MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S.
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| Hum Mutat 9(6):512-8. 1997
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| 15 | L1CAM, HSAS
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| Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
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| Gu SM, Orth U, Zankl M, Schroder J, Gal A.
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| Am J Med Genet 71(3):336-40. 1997
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| 16 | HSAS, L1CAM
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| A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.
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| Takechi T, et al.
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| Hum Genet 97 : 353-356. 1996
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| 17 | HSAS, L1CAM
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| Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
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| Gu SM, et al.
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| J Med Genet 33 : 103-106. 1996
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| 18 | 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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| 19 | L1CAM, HSAS
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| A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
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| Okamoto N, et al.
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| Jpn J Hum Genet 41 : 431-437. 1996
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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | HSAS
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| Genetic heterogeneity in X-linked hydrocephalus : linkage to markers within Xq27.3.
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| Strain L, et al.
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| Am J Hum Genet 54 : 236-243. 1994
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| 24 | L1CAM, HSAS
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| Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
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| Coucke P, et al.
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| Hum Mol Genet 3 : 671-673. 1994
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| 25 | 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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| 26 | 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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| 27 | 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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| 28 | HSAS
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| Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
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| Jouet M, et al.
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| J Med Genet 30 : 214-217. 1993
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| 29 | HSAS, L1CAM
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| A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS).
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| Jouet M, et al.
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| Nat Genet 4 : 331. 1993
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| 30 | HSAS
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| A duplication in the L1CAM gene associated with X-linked hydrocephalus.
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| Van Camp G, et al.
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| Nat Genet 4 : 421-425. 1993
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| 31 | HSAS
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| X-linked hydrocephalus : clinical heterogeneity at a single gene locus.
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| Serville F, et al.
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| Eur J Pediatr 151 : 515-518. 1992
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| 32 | HSAS
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| Further localization of X-linked hydrocephalus in the chromosomal region Xq28.
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| Willems PJ, et al.
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| Am J Hum Genet 51 : 307-315. 1992
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| 33 | HSAS
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| The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.
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| Lyonnet S, et al.
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| Genomics 14 : 508-510. 1992
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| 34 | HSAS, L1CAM
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| Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.
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| Rosenthal A, et al.
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| Nat Genet 2 : 107-112. 1992
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| 35 | HSAS
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| Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.
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| Willems PJ, et al.
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| Genomics 8 : 367-370. 1990
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