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    Results: 1 to 20 of 416

    1.

    Walker-Warburg syndrome.

    Vajsar J, Schachter H.

    Orphanet J Rare Dis. 2006 Aug 3;1:29. Review.PMID: 16887026 [PubMed - indexed for MEDLINE]Related articlesFree article

    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. Epub 2005 May 13.PMID: 15894594 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    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. Epub 2002 Oct 4.PMID: 12369018 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

    Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U.

    Eur J Paediatr Neurol. 2007 Jan;11(1):46-9. Epub 2006 Dec 11.PMID: 17161965 [PubMed - indexed for MEDLINE]Related articles

    5.

    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.PMID: 16575835 [PubMed - indexed for MEDLINE]Related articles

    6.

    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 3;325(1):75-9.PMID: 15522202 [PubMed - indexed for MEDLINE]Related articles

    7.

    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 23;62(6):1009-11.PMID: 15037715 [PubMed - indexed for MEDLINE]Related articles

    8.

    Glyc-O-genetics of Walker-Warburg syndrome.

    van Reeuwijk J, Brunner HG, van Bokhoven H.

    Clin Genet. 2005 Apr;67(4):281-9. Review.PMID: 15733261 [PubMed - indexed for MEDLINE]Related articles

    9.

    Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

    Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN.

    Neuromuscul Disord. 2008 Aug;18(8):675-7. Epub 2008 Jul 18.PMID: 18640039 [PubMed - indexed for MEDLINE]Related articles

    10.

    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. Epub 2007 Sep 18.PMID: 17878207 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A case of Walker-Warburg syndrome.

    Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, Kobayashi O, Toda T, Nonaka I, Tanizawa T.

    Brain Dev. 2000 Oct;22(7):454-7.PMID: 11102733 [PubMed - indexed for MEDLINE]Related articles

    12.

    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.PMID: 18752264 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

    Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.

    Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.PMID: 17634419 [PubMed - indexed for MEDLINE]Related articles

    14.

    POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

    Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E.

    Neuromuscul Disord. 2008 Jul;18(7):565-71. Epub 2008 Jun 2.PMID: 18513969 [PubMed - indexed for MEDLINE]Related articles

    15.

    [A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy]

    Sasaki M, Kondo E, Yamashita Y, Toda T, Nonaka I.

    No To Hattatsu. 1999 Sep;31(5):445-51. Japanese. PMID: 10487070 [PubMed - indexed for MEDLINE]Related articles

    16.

    Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.

    Yoshioka M.

    Brain Dev. 2009 Jun;31(6):419-22. Epub 2008 Oct 2.PMID: 18834683 [PubMed - indexed for MEDLINE]Related articles

    17.

    [Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy]

    Macaya Ruiz A, Roig Quilis M, Sancho Olivé S, Navarro Fernández-Valbuena C, Tallada Serra M, Olesti Marco M.

    An Esp Pediatr. 1989 Nov;31(5):465-9. Spanish. PMID: 2619134 [PubMed - indexed for MEDLINE]Related articles

    18.

    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 15;133A(1):53-7.PMID: 15637732 [PubMed - indexed for MEDLINE]Related articles

    19.

    Walker-Warburg syndrome: report of three affected sibs.

    Rodgers BL, Vanner LV, Pai GS, Sens MA.

    Am J Med Genet. 1994 Jan 15;49(2):198-201.PMID: 8116667 [PubMed - indexed for MEDLINE]Related articles

    20.

    Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

    Laverda AM, Battaglia MA, Drigo P, Battistella PA, Casara GL, Suppiej A, Casellato R.

    Childs Nerv Syst. 1993 Apr;9(2):84-7.PMID: 8319237 [PubMed - indexed for MEDLINE]Related articles

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