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Journal Abstract Search

267 related items for PubMed ID: 24783655

  • 1. A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.
    Sandal G, Tok L, Ormeci AR.
    Genet Couns; 2014; 25(1):49-52. PubMed ID: 24783655
    [Abstract] [Full Text] [Related]

  • 2. Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis.
    Ahmet D, Bahri E, Mustafa A, Varim N, Tunc T.
    Clin Dysmorphol; 2006 Jan; 15(1):41-42. PubMed ID: 16317308
    [Abstract] [Full Text] [Related]

  • 3. Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.
    Sergi C, Gekas J, Kamnasaran D.
    Fetal Pediatr Pathol; 2012 Oct; 31(5):315-8. PubMed ID: 22432933
    [Abstract] [Full Text] [Related]

  • 4. [Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report].
    Alvarado Socarras JL, Laverde Amaya DC, Prada C, García Carrillo J.
    Arch Argent Pediatr; 2015 Oct; 113(5):e290-3. PubMed ID: 26294165
    [Abstract] [Full Text] [Related]

  • 5. "Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.
    Lurie IW, Wulfsberg EA.
    Am J Med Genet; 1993 Sep 01; 47(3):405-9. PubMed ID: 8135289
    [Abstract] [Full Text] [Related]

  • 6. Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.
    Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S.
    Am J Med Genet; 1994 Apr 01; 50(2):177-9. PubMed ID: 8010349
    [Abstract] [Full Text] [Related]

  • 7. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes.
    Dincsoy MY, Salih MA, al-Jurayyan N, al Saadi M, Patel PJ.
    Am J Med Genet; 1995 Apr 10; 56(3):317-21. PubMed ID: 7778599
    [Abstract] [Full Text] [Related]

  • 8. Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature.
    Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole S.
    Arch Gynecol Obstet; 2007 May 10; 275(5):385-7. PubMed ID: 17047972
    [Abstract] [Full Text] [Related]

  • 9. Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.
    Bous SM, Solomon BD, Graul-Neumann L, Neitzel H, Hardisty EE, Muenke M.
    Clin Dysmorphol; 2012 Oct 10; 21(4):183-190. PubMed ID: 22643382
    [Abstract] [Full Text] [Related]

  • 10. Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.
    Ionescu CA, Calin D, Navolan D, Matei A, Dimitriu M, Herghelegiu C, Ples L.
    Medicine (Baltimore); 2018 Jul 10; 97(29):e11521. PubMed ID: 30024536
    [Abstract] [Full Text] [Related]

  • 11. Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.
    Marquis-Nicholson R, Aftimos S, Ashton F, Love JM, Stone P, McFarlane J, George AM, Love DR.
    Gene; 2011 Oct 15; 486(1-2):37-40. PubMed ID: 21756987
    [Abstract] [Full Text] [Related]

  • 12. Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.
    Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek E.
    Turk J Pediatr; 2008 Oct 15; 50(3):287-90. PubMed ID: 18773678
    [Abstract] [Full Text] [Related]

  • 13. Alobar holoprosencephaly associated with cebocephaly and craniosynostosis.
    Lin CH, Tsai JD, Ho YJ, Lin WC.
    Acta Neurol Taiwan; 2009 Jun 15; 18(2):123-6. PubMed ID: 19673365
    [Abstract] [Full Text] [Related]

  • 14. Pseudo-trisomy 13 syndrome: report of one case.
    Tsai FJ, Tsai CH.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1992 Jun 15; 33(6):441-5. PubMed ID: 1306929
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic variability in Patau syndrome.
    Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV.
    Rev Med Chir Soc Med Nat Iasi; 2013 Jun 15; 117(2):321-7. PubMed ID: 24340511
    [Abstract] [Full Text] [Related]

  • 16. Dysmorphology report holoprosencephaly-polydactyly syndrome: affected brother and sister with a wide spectrum of anomalies.
    Delozier-Blanchet CD, Engel E.
    Genet Couns; 1992 Jun 15; 3(1):57-8. PubMed ID: 1590983
    [No Abstract] [Full Text] [Related]

  • 17. Cyclopia and exadactyly: CT and MRI findings.
    Karantanas AH, Papanikolaou N, Danos A, Antonakopoulos G.
    Dentomaxillofac Radiol; 1999 Nov 15; 28(6):372-4. PubMed ID: 10578193
    [Abstract] [Full Text] [Related]

  • 18. Alobar holoprosencephaly: report of two cases with unusual findings.
    Chang LH.
    Chang Gung Med J; 2003 Sep 15; 26(9):700-6. PubMed ID: 14651170
    [Abstract] [Full Text] [Related]

  • 19. A and B preaxial polydactyly with syndactyly of feet and hands in the same person--a case report.
    Gawlikowska-Sroka A, Tudaj W, Czerwiński F.
    Adv Med Sci; 2009 Sep 15; 54(2):305-7. PubMed ID: 20053619
    [Abstract] [Full Text] [Related]

  • 20. Mosaic trisomy 9 and lobar holoprosencephaly.
    Gérard-Blanluet M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, Janaud JC, Odent S, Encha-Razavi F.
    Am J Med Genet; 2002 Aug 15; 111(3):295-300. PubMed ID: 12210326
    [Abstract] [Full Text] [Related]

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