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Journal Abstract Search

399 related items for PubMed ID: 23161355

  • 1. Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
    Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H.
    Prenat Diagn; 2013 Jan; 33(1):75-80. PubMed ID: 23161355
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  • 2. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
    Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV.
    Clin Genet; 2014 Aug; 86(2):142-8. PubMed ID: 23889335
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  • 3. First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
    Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F.
    Gene; 2013 Dec 10; 532(1):13-7. PubMed ID: 23954224
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  • 10. Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
    Shimizu R, Saito R, Hoshino K, Ogawa K, Negishi T, Nishimura J, Mitsui N, Osawa M, Ohashi H.
    Congenit Anom (Kyoto); 2010 Sep 10; 50(3):197-9. PubMed ID: 20584037
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  • 12. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
    Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P.
    Ophthalmic Genet; 2011 Nov 10; 32(4):256-8. PubMed ID: 21671750
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  • 13. Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.
    Tonni G, Lituania M, Chitayat D, Bonasoni MP, Keating S, Thompson M, Shannon P.
    Taiwan J Obstet Gynecol; 2014 Dec 10; 53(4):592-7. PubMed ID: 25510707
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  • 14. Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.
    Guo C, Zhang T, Ma Y, Yue S, Sun L.
    BMC Pregnancy Childbirth; 2024 Jun 10; 24(1):420. PubMed ID: 38858685
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  • 17. Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.
    Zhang A, Venkat A, Taujale R, Mull JL, Ito A, Kannan N, Haltiwanger RS.
    J Biol Chem; 2021 Jul 10; 297(1):100843. PubMed ID: 34058199
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  • 18. Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero.
    Chmait R, Pretorius D, Moore T, Hull A, James G, Nelson T, Jones M.
    Ultrasound Obstet Gynecol; 2006 Feb 10; 27(2):173-6. PubMed ID: 16247756
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  • 19. Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
    Camera G, Centa A, Pozzolo S, Camera A.
    Clin Dysmorphol; 1993 Oct 10; 2(4):317-21. PubMed ID: 8305962
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  • 20. Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
    Vasudevan D, Takeuchi H, Johar SS, Majerus E, Haltiwanger RS.
    Curr Biol; 2015 Feb 02; 25(3):286-295. PubMed ID: 25544610
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