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Journal Abstract Search

170 related items for PubMed ID: 1867286

  • 1. Pseudo-trisomy 13 syndrome.
    Cohen MM, Gorlin RJ.
    Am J Med Genet; 1991 Jun 01; 39(3):332-5; discussion 336-7. PubMed ID: 1867286
    [Abstract] [Full Text] [Related]

  • 2. 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 Jun 01; 50(3):287-90. PubMed ID: 18773678
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 4. Familial holoprosencephaly, heart defects, and polydactyly.
    Hennekam RC, van Noort G, de la Fuente AA.
    Am J Med Genet; 1991 Nov 01; 41(2):258-62. PubMed ID: 1785646
    [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
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  • 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
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  • 9. Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?
    Seller MJ, Pal K, Moscoso G, Nicolaides K, Hyett JA.
    Clin Dysmorphol; 1998 Jan 10; 7(1):41-4. PubMed ID: 9546829
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  • 10. Familial holoprosencephaly: further example of autosomal recessive inheritance.
    Gillessen-Kaesbach G.
    Birth Defects Orig Artic Ser; 1996 Jan 10; 30(1):251-9. PubMed ID: 9125332
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  • 12. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
    Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J.
    J Med Genet; 1991 May 10; 28(5):297-303. PubMed ID: 1865466
    [Abstract] [Full Text] [Related]

  • 13. Agnathia-holoprosencephaly: a new recessive syndrome?
    Porteous ME, Wright C, Smith D, Burn J.
    Clin Dysmorphol; 1993 Apr 10; 2(2):161-4. PubMed ID: 8281280
    [Abstract] [Full Text] [Related]

  • 14. Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
    Seller MJ, Chitty LS, Dunbar H.
    J Med Genet; 1993 Nov 10; 30(11):970-1. PubMed ID: 8301659
    [Abstract] [Full Text] [Related]

  • 15. A trisomy 13 case with Robertsonian translocation presenting with atypical findings.
    Demirel G, Oguz SS, Celik IH, Sandal G, Uras N, Erdeve O, Dilmen U.
    Genet Couns; 2010 Nov 10; 21(3):293-7. PubMed ID: 20964120
    [Abstract] [Full Text] [Related]

  • 16. Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.
    Sergi C, Gekas J, Kamnasaran D.
    Fetal Pediatr Pathol; 2012 Oct 10; 31(5):315-8. PubMed ID: 22432933
    [Abstract] [Full Text] [Related]

  • 17. PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
    Powell CM, Chandra RS, Saal HM.
    Am J Med Genet; 1993 Nov 01; 47(6):807-11. PubMed ID: 8279476
    [Abstract] [Full Text] [Related]

  • 18. Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis.
    Cohen MM, Jirásek JE, Guzman RT, Gorlin RJ, Peterson MQ.
    Birth Defects Orig Artic Ser; 1971 Jun 01; 7(7):125-35. PubMed ID: 5173200
    [Abstract] [Full Text] [Related]

  • 19. Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.
    Corsello G, Buttitta P, Cammarata M, Lo Presti A, Maresi E, Zumpani L, Giuffrè L.
    Am J Med Genet; 1990 Oct 01; 37(2):244-9. PubMed ID: 2147361
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  • 20. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.
    Verloes A, Dodinval P, Beco L, Bonnivert J, Lambotte C.
    Am J Med Genet; 1990 Sep 01; 37(1):119-23. PubMed ID: 2240028
    [Abstract] [Full Text] [Related]

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