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 *

518 related articles for article (PubMed ID: 12369018)

  • 1. 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]  

  • 2. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
    van Reeuwijk J; Janssen M; van den Elzen C; Beltran-Valero de Bernabé D; Sabatelli P; Merlini L; Boon M; Scheffer H; Brockington M; Muntoni F; Huynen MA; Verrips A; Walsh CA; Barth PG; Brunner HG; van Bokhoven H
    J Med Genet; 2005 Dec; 42(12):907-12. PubMed ID: 15894594
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.
    Yamamoto T; Kato Y; Kawaguchi M; Shibata N; Kobayashi M
    Med Electron Microsc; 2004 Dec; 37(4):200-7. PubMed ID: 15614444
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
    Willer T; Prados B; Falcón-Pérez JM; Renner-Müller I; Przemeck GK; Lommel M; Coloma A; Valero MC; de Angelis MH; Tanner W; Wolf E; Strahl S; Cruces J
    Proc Natl Acad Sci U S A; 2004 Sep; 101(39):14126-31. PubMed ID: 15383666
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
    Akasaka-Manya K; Manya H; Endo T
    Biochem Biophys Res Commun; 2004 Dec; 325(1):75-9. PubMed ID: 15522202
    [TBL] [Abstract][Full Text] [Related]  

  • 6. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
    Kim DS; Hayashi YK; Matsumoto H; Ogawa M; Noguchi S; Murakami N; Sakuta R; Mochizuki M; Michele DE; Campbell KP; Nonaka I; Nishino I
    Neurology; 2004 Mar; 62(6):1009-11. PubMed ID: 15037715
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
    van Reeuwijk J; Maugenre S; van den Elzen C; Verrips A; Bertini E; Muntoni F; Merlini L; Scheffer H; Brunner HG; Guicheney P; van Bokhoven H
    Hum Mutat; 2006 May; 27(5):453-9. PubMed ID: 16575835
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
    Currier SC; Lee CK; Chang BS; Bodell AL; Pai GS; Job L; Lagae LG; Al-Gazali LI; Eyaid WM; Enns G; Dobyns WB; Walsh CA
    Am J Med Genet A; 2005 Feb; 133A(1):53-7. PubMed ID: 15637732
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
    Yoshioka M
    Brain Dev; 2009 Jun; 31(6):419-22. PubMed ID: 18834683
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
    Geis T; Rödl T; Topaloğlu H; Balci-Hayta B; Hinreiner S; Müller-Felber W; Schoser B; Mehraein Y; Hübner A; Zirn B; Hoopmann M; Reutter H; Mowat D; Schuierer G; Schara U; Hehr U; Kölbel H
    Orphanet J Rare Dis; 2019 Jul; 14(1):179. PubMed ID: 31311558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; Quinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur AY; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Walker-Warburg syndrome.
    Vajsar J; Schachter H
    Orphanet J Rare Dis; 2006 Aug; 1():29. PubMed ID: 16887026
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].
    Toda T
    Rinsho Shinkeigaku; 2005 Nov; 45(11):932-4. PubMed ID: 16447766
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
    Taniguchi K; Kobayashi K; Saito K; Yamanouchi H; Ohnuma A; Hayashi YK; Manya H; Jin DK; Lee M; Parano E; Falsaperla R; Pavone P; Van Coster R; Talim B; Steinbrecher A; Straub V; Nishino I; Topaloglu H; Voit T; Endo T; Toda T
    Hum Mol Genet; 2003 Mar; 12(5):527-34. PubMed ID: 12588800
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
    Manzini MC; Gleason D; Chang BS; Hill RS; Barry BJ; Partlow JN; Poduri A; Currier S; Galvin-Parton P; Shapiro LR; Schmidt K; Davis JG; Basel-Vanagaite L; Seidahmed MZ; Salih MA; Dobyns WB; Walsh CA
    Hum Mutat; 2008 Nov; 29(11):E231-41. PubMed ID: 18752264
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
    Sabatelli P; Columbaro M; Mura I; Capanni C; Lattanzi G; Maraldi NM; Beltràn-Valero de Barnabè D; van Bokoven H; Squarzoni S; Merlini L
    Biochim Biophys Acta; 2003 May; 1638(1):57-62. PubMed ID: 12757935
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Glyc-O-genetics of Walker-Warburg syndrome.
    van Reeuwijk J; Brunner HG; van Bokhoven H
    Clin Genet; 2005 Apr; 67(4):281-9. PubMed ID: 15733261
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glycosylation defects: a new mechanism for muscular dystrophy?
    Grewal PK; Hewitt JE
    Hum Mol Genet; 2003 Oct; 12 Spec No 2():R259-64. PubMed ID: 12925572
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.