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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

145 related items for PubMed ID: 33977792

  • 1. Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations.
    Bayram N, Bayram AK, Per H, Gümüş H, Ozsaygili C, Doğan MS, Çağlayan AO.
    Eur J Ophthalmol; 2022 Sep; 32(5):NP71-NP76. PubMed ID: 33977792
    [Abstract] [Full Text] [Related]

  • 2. 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
    Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D.
    Eur J Med Genet; 2013 Dec; 56(12):689-94. PubMed ID: 24120487
    [Abstract] [Full Text] [Related]

  • 3. Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.
    Zago S, Silvestri E, Arcangeli T, Calisesi M, Romeo C, Parmeggiani G, Parrini E, Cetica V, Guerrini R, Palicelli A, Bonasoni MP.
    Fetal Pediatr Pathol; 2023 Apr; 42(2):334-341. PubMed ID: 36048137
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
    Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, YungGee H, Hildebrandt F, Soliman NA.
    Am J Med Genet A; 2017 Oct; 173(10):2697-2702. PubMed ID: 28815891
    [Abstract] [Full Text] [Related]

  • 7. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome.
    Kimura S, Sasaki Y, Kobayashi T, Ohtsuki N, Tanaka Y, Hara M, Miyake S, Yamada M, Iwamoto H, Misugi N.
    Brain Dev; 1993 Oct; 15(3):182-91. PubMed ID: 8214343
    [Abstract] [Full Text] [Related]

  • 8. 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 16; 14(1):179. PubMed ID: 31311558
    [Abstract] [Full Text] [Related]

  • 9. Cerebro-ocular dysplasia-muscular dystrophy syndrome. Report of two cases.
    Heggie P, Grossniklaus HE, Roessmann U, Chou SM, Cruse RP.
    Arch Ophthalmol; 1987 Apr 16; 105(4):520-4. PubMed ID: 3105522
    [Abstract] [Full Text] [Related]

  • 10. Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients.
    Alharbi S, Alhashem A, Alkuraya F, Kashlan F, Tlili-Graiess K.
    Brain Dev; 2021 Mar 16; 43(3):380-388. PubMed ID: 33199158
    [Abstract] [Full Text] [Related]

  • 11. Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
    Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A.
    Am J Med Genet A; 2017 Nov 16; 173(11):3082-3086. PubMed ID: 28980384
    [Abstract] [Full Text] [Related]

  • 12. ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.
    Trkova M, Krutilkova V, Smetanova D, Becvarova V, Hlavova E, Jencikova N, Hodacova J, Hnykova L, Hroncova H, Horacek J, Stejskal D.
    Eur J Med Genet; 2015 Aug 16; 58(8):372-5. PubMed ID: 26087224
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
    Yoshioka M.
    Brain Dev; 2009 Jun 16; 31(6):419-22. PubMed ID: 18834683
    [Abstract] [Full Text] [Related]

  • 14. Walker-Warburg syndrome.
    Vajsar J, Schachter H.
    Orphanet J Rare Dis; 2006 Aug 03; 1():29. PubMed ID: 16887026
    [Abstract] [Full Text] [Related]

  • 15. Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome.
    Mano N, Mitsutsuji T, Yoshikawa Y, Miyamoto M, Watanabe H, Shimizu K, Miki M, Mimura M, Ueki M, Ikeda T.
    Case Rep Ophthalmol; 2015 Aug 03; 6(2):210-5. PubMed ID: 26265907
    [Abstract] [Full Text] [Related]

  • 16. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
    Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J.
    Neurogenetics; 2007 Nov 03; 8(4):279-88. PubMed ID: 17906881
    [Abstract] [Full Text] [Related]

  • 17. 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 03; 42(12):907-12. PubMed ID: 15894594
    [Abstract] [Full Text] [Related]

  • 18. Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.
    Talenti G, Robson C, Severino MS, Alves CA, Chitayat D, Dahmoush H, Smith L, Muntoni F, Blaser SI, D'Arco F.
    AJNR Am J Neuroradiol; 2021 Jan 03; 42(1):167-172. PubMed ID: 33122211
    [Abstract] [Full Text] [Related]

  • 19. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
    Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
    Neuromuscul Disord; 2011 Jan 03; 21(1):20-30. PubMed ID: 20961758
    [Abstract] [Full Text] [Related]

  • 20. Diagnostic criteria for Walker-Warburg syndrome.
    Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M.
    Am J Med Genet; 1989 Feb 03; 32(2):195-210. PubMed ID: 2494887
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.