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156 related items for PubMed ID: 8707312

  • 1. Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.
    Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F.
    Hum Genet; 1996 Sep; 98(3):380-5. PubMed ID: 8707312
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  • 2. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.
    Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J.
    Hum Mol Genet; 1995 Sep; 4(9):1633-6. PubMed ID: 8541852
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  • 6. The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene.
    Nicole S, White PS, Topaloglu H, Beigthon P, Salih M, Hentati F, Fontaine B.
    Hum Genet; 1999 Sep; 105(1-2):98-103. PubMed ID: 10480361
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  • 7. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
    Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y.
    Am J Hum Genet; 2002 May; 70(5):1368-75. PubMed ID: 11941538
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  • 10. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
    Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S.
    Hum Mutat; 2006 Nov; 27(11):1082-91. PubMed ID: 16927315
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  • 11. Schwartz-Jampel syndrome: an atypical form?
    Figuera LE, Jimenez-Gil FJ, García-Cruz MO, Cantú JM.
    Am J Med Genet; 1993 Sep 15; 47(4):526-8. PubMed ID: 8256816
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  • 12. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
    Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC.
    BMC Neurol; 2003 Jul 02; 3():3. PubMed ID: 12839625
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  • 13. Schwartz-Jampel syndrome with dominant inheritance.
    Pascuzzi RM, Gratianne R, Azzarelli B, Kincaid JC.
    Muscle Nerve; 1990 Dec 02; 13(12):1152-63. PubMed ID: 2266988
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  • 17. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
    Ren Z, Lin PY, Klintworth GK, Iwata F, Munier FL, Schorderet DF, El Matri L, Theendakara V, Basti S, Reddy M, Hejtmancik JF.
    Hum Genet; 2002 Jun 02; 110(6):568-77. PubMed ID: 12107443
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  • 19. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.
    Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR.
    Am J Hum Genet; 1995 Dec 02; 57(6):1351-63. PubMed ID: 8533764
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  • 20. Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.
    Rajpal MK, Sedki FK, Eid TJ.
    J Pharm Pract; 2024 Oct 02; 37(5):1197-1198. PubMed ID: 37931642
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