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PUBMED FOR HANDHELDS

Journal Abstract Search


175 related items for PubMed ID: 21204220

  • 1.
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  • 2. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
    Lim BC, Park WY, Seo EJ, Kim KJ, Hwang YS, Chae JH.
    J Child Neurol; 2011 May; 26(5):615-8. PubMed ID: 21471554
    [Abstract] [Full Text] [Related]

  • 3. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
    Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ.
    Nat Genet; 2004 Oct; 36(10):1053-5. PubMed ID: 15338008
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  • 4. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
    Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L, Italian CBCD Study Group, Bertini E, Dallapiccola B, Valente EM.
    Orphanet J Rare Dis; 2013 May 16; 8():75. PubMed ID: 23679990
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  • 6. Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis.
    Blank MC, Grinberg I, Aryee E, Laliberte C, Chizhikov VV, Henkelman RM, Millen KJ.
    Development; 2011 Mar 16; 138(6):1207-16. PubMed ID: 21307096
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  • 7. De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.
    Sudha T, Dawson AJ, Prasad AN, Konkin D, de Groot GW, Prasad C.
    Clin Dysmorphol; 2001 Jul 16; 10(3):193-6. PubMed ID: 11446413
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  • 8. ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.
    Aruga J, Millen KJ.
    Adv Exp Med Biol; 2018 Jul 16; 1046():249-268. PubMed ID: 29442326
    [Abstract] [Full Text] [Related]

  • 9. Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.
    Mimaki M, Shiihara T, Watanabe M, Hirakata K, Sakazume S, Ishiguro A, Shimojima K, Yamamoto T, Oka A, Mizuguchi M.
    Brain Dev; 2015 Aug 16; 37(7):714-8. PubMed ID: 25454392
    [Abstract] [Full Text] [Related]

  • 10. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
    de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.
    Am J Med Genet A; 2005 Aug 15; 137(1):81-7. PubMed ID: 16015581
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.
    Sun Y, Zhang N, Tian H, Zhang P, Li Y.
    J Genet; 2021 Aug 15; 100():. PubMed ID: 34238780
    [Abstract] [Full Text] [Related]

  • 12. Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.
    Dean SJ, Holden KR, Dwivedi A, Dupont BR, Lyons MJ.
    Pediatr Neurol; 2014 Jun 15; 50(6):636-9. PubMed ID: 24725350
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  • 13.
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  • 14. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
    Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D.
    J Med Genet; 2007 Jan 15; 44(1):e60. PubMed ID: 17209130
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  • 16. Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.
    Chandler KE, de Die-Smulders CE, Engelen JJ, Schrander JJ.
    Eur J Pediatr; 1997 Aug 15; 156(8):636-8. PubMed ID: 9266197
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  • 17. Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion.
    Chen CP, Chang TY, Shih JC, Lin SP, Lin CJ, Wang W, Lee CC, Town DD, Pan CW, Tzen CY.
    Prenat Diagn; 2002 Dec 15; 22(12):1063-6. PubMed ID: 12454959
    [Abstract] [Full Text] [Related]

  • 18. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.
    Murakami H, Enomoto Y, Kumaki T, Aida N, Kurosawa K.
    J Hum Genet; 2024 Jan 15; 69(1):47-52. PubMed ID: 37950019
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  • 19. Microdeletion 3q syndrome.
    Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F.
    J Craniofac Surg; 2011 Nov 15; 22(6):2124-8. PubMed ID: 22067867
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