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PUBMED FOR HANDHELDS

Journal Abstract Search


213 related items for PubMed ID: 33949289

  • 1. A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.
    Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, Engle E.
    Ophthalmic Genet; 2021 Oct; 42(5):612-614. PubMed ID: 33949289
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  • 2. A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.
    Wang D, Hu D, Guo Z, Hu R, Wang Q, Liu Y, Liu M, Meng Z, Yang H, Zhang Y, Cai F, Zhou W, Song W.
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1100. PubMed ID: 31885220
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  • 4. Wieacker-Wolff syndrome with associated cleft palate in a female case.
    Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM.
    Am J Med Genet A; 2018 Jan; 176(1):167-170. PubMed ID: 29150902
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  • 6. Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.
    Sun JJ, Cai Q, Xu M, Liu YN, Li WR, Li J, Ma L, Cai C, Gong XH, Zeng YT, Ren ZR, Zeng F.
    Genes (Basel); 2022 Aug 29; 13(9):. PubMed ID: 36140726
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  • 9. Ocular manifestations of 22q11.2 microduplication.
    Cordovez JA, Capasso J, Lingao MD, Sadagopan KA, Spaeth GL, Wasserman BN, Levin AV.
    Ophthalmology; 2014 Jan 29; 121(1):392-398. PubMed ID: 23972321
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  • 10. Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly.
    Alshamrani AA, Alghulaydhawi FA, Al Shamrani M.
    Middle East Afr J Ophthalmol; 2019 Jan 29; 26(1):37-39. PubMed ID: 31114123
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  • 11. Teaching NeuroImages: alternating ptosis and Marcus Gunn jaw-winking phenomenon with PHOX2B mutation.
    Basu AP, Bellis P, Whittaker RG, McKean MC, Devlin AM.
    Neurology; 2012 Oct 23; 79(17):e153. PubMed ID: 23091080
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  • 12. A case report of rare ZC4H2-associated disorders associated with three large hernias.
    Nagara S, Fukaya S, Muramatsu Y, Kaname T, Tanaka T.
    Pediatr Int; 2020 Aug 23; 62(8):985-986. PubMed ID: 32686882
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  • 13. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
    Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.
    Hum Mutat; 2019 Dec 23; 40(12):2270-2285. PubMed ID: 31206972
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  • 15. Marcus Gunn Phenomenon.
    Falcão I, Almeida F.
    J Pediatr; 2017 Sep 23; 188():302. PubMed ID: 28606373
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  • 17. [Marcus Gunn Syndrome. Study of 3 rare cases].
    Benlahbib M, Bencherifa F, Imdary I, El Berdaoui N, Ali H, Bernoussi A, Chefchaouni MC, Berraho A.
    Bull Soc Belge Ophtalmol; 2013 Sep 23; (322):125-32. PubMed ID: 24923093
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  • 18. "See-saw" Marcus Gunn syndrome.
    Kumar V, Goel N, Raina UK, Ghosh B.
    Ophthalmic Plast Reconstr Surg; 2011 Sep 23; 27(6):e144-5. PubMed ID: 21346672
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  • 19. Marcus Gunn jaw winking synkinesis: report of two cases.
    Carman KB, Ozkan S, Yakut A, Ekici A.
    BMJ Case Rep; 2013 Jan 23; 2013():. PubMed ID: 23345532
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