These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 9915951)

  • 1. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
    Cormand B; Avela K; Pihko H; Santavuori P; Talim B; Topaloglu H; de la Chapelle A; Lehesjoki AE
    Am J Hum Genet; 1999 Jan; 64(1):126-35. PubMed ID: 9915951
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
    Cormand B; Pihko H; Bayés M; Valanne L; Santavuori P; Talim B; Gershoni-Baruch R; Ahmad A; van Bokhoven H; Brunner HG; Voit T; Topaloglu H; Dobyns WB; Lehesjoki AE
    Neurology; 2001 Apr; 56(8):1059-69. PubMed ID: 11320179
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.
    Ranta S; Pihko H; Santavuori P; Tahvanainen E; de la Chapelle A
    Neuromuscul Disord; 1995 May; 5(3):221-5. PubMed ID: 7633187
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Congenital muscular dystrophies: muscle-eye-brain disease].
    Meyer S; Struffert T; Uyanik G; Oehl-Jaschkowitz B; Hehr U; Shamdeen MG
    Klin Padiatr; 2005; 217(2):68-9. PubMed ID: 15770576
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
    Beltrán-Valero de Bernabé D; Currier S; Steinbrecher A; Celli J; van Beusekom E; van der Zwaag B; Kayserili H; Merlini L; Chitayat D; Dobyns WB; Cormand B; Lehesjoki AE; Cruces J; Voit T; Walsh CA; van Bokhoven H; Brunner HG
    Am J Hum Genet; 2002 Nov; 71(5):1033-43. PubMed ID: 12369018
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.
    Triki C; Louhichi N; Méziou M; Choyakh F; Kéchaou MS; Jlidi R; Mhiri C; Fakhfakh F; Ayadi H
    Neuromuscul Disord; 2003 Jan; 13(1):4-12. PubMed ID: 12467726
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
    Toda T; Yoshioka M; Nakahori Y; Kanazawa I; Nakamura Y; Nakagome Y
    Ann Neurol; 1995 Jan; 37(1):99-101. PubMed ID: 7818265
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
    Zervos A; Hunt KE; Tong HQ; Avallone J; Morales J; Friedman N; Cohen BH; Clark B; Guo S; Gazda H; Beggs AH; Traboulsi EI
    Eur J Ophthalmol; 2002; 12(4):253-61. PubMed ID: 12219993
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
    Talim B; Ferreiro A; Cormand B; Vignier N; Oto A; Göğüş S; Cila A; Lehesjoki AE; Pihko H; Guicheney P; Topaloğlu H
    Neuromuscul Disord; 2000 Dec; 10(8):548-52. PubMed ID: 11053680
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.
    Toda T; Ikegawa S; Okui K; Kondo E; Saito K; Fukuyama Y; Yoshioka M; Kumagai T; Suzumori K; Kanazawa I
    Am J Hum Genet; 1994 Nov; 55(5):946-50. PubMed ID: 7977357
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.
    Toda T; Miyake M; Kobayashi K; Mizuno K; Saito K; Osawa M; Nakamura Y; Kanazawa I; Nakagome Y; Tokunaga K; Nakahori Y
    Am J Hum Genet; 1996 Dec; 59(6):1313-20. PubMed ID: 8940277
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cobblestone lissencephaly with normal eyes and muscle.
    Dobyns WB; Patton MA; Stratton RF; Mastrobattista JM; Blanton SH; Northrup H
    Neuropediatrics; 1996 Apr; 27(2):70-5. PubMed ID: 8737821
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Recent progress, genetic diagnosis and its problem on congenital muscular dystrophies (Fukuyama and non-Fukuyama types)].
    Toda T
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1419-21. PubMed ID: 8752416
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
    Weiler T; Greenberg CR; Zelinski T; Nylen E; Coghlan G; Crumley MJ; Fujiwara TM; Morgan K; Wrogemann K
    Am J Hum Genet; 1998 Jul; 63(1):140-7. PubMed ID: 9634523
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
    Brockington M; Sewry CA; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
    Am J Hum Genet; 2000 Feb; 66(2):428-35. PubMed ID: 10677302
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
    Hillaire D; Leclerc A; Fauré S; Topaloglu H; Chiannilkulchaï N; Guicheney P; Grinas L; Legos P; Philpot J; Evangelista T
    Hum Mol Genet; 1994 Sep; 3(9):1657-61. PubMed ID: 7833925
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
    Haravuori H; Mäkelä-Bengs P; Udd B; Partanen J; Pulkkinen L; Somer H; Peltonen L
    Am J Hum Genet; 1998 Mar; 62(3):620-6. PubMed ID: 9497249
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
    Toda T; Kobayashi K; Takeda S; Sasaki J; Kurahashi H; Kano H; Tachikawa M; Wang F; Nagai Y; Taniguchi K; Taniguchi M; Sunada Y; Terashima T; Endo T; Matsumura K
    Congenit Anom (Kyoto); 2003 Jun; 43(2):97-104. PubMed ID: 12893968
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)].
    Toda T; Kobayashi K
    Nihon Rinsho; 1997 Dec; 55(12):3169-75. PubMed ID: 9436430
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy.
    Kondo-Iida E; Saito K; Tanaka H; Tsuji S; Ishihara T; Osawa M; Fukuyama Y; Toda T
    Hum Genet; 1997 Apr; 99(4):427-32. PubMed ID: 9099829
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.