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Journal Abstract Search

134 related items for PubMed ID: 8533819

  • 1. Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation.
    Kosztolányi G, Weisenbach J, Méhes K.
    Am J Med Genet; 1995 Sep 11; 58(3):213-6. PubMed ID: 8533819
    [Abstract] [Full Text] [Related]

  • 2. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb 11; 121(2):404-10. PubMed ID: 18245432
    [Abstract] [Full Text] [Related]

  • 3. Mosaic trisomy 9 syndrome with unusual phenotype.
    Kaminker CP, Daín L, Lamas MA, Sánchez JM.
    Am J Med Genet; 1985 Oct 11; 22(2):237-41. PubMed ID: 3931476
    [Abstract] [Full Text] [Related]

  • 4. [Cytogenetic study for a child patient with mental retardation and eye multiple malformation].
    Qin M.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1997 Aug 11; 19(4):309-11. PubMed ID: 10453574
    [Abstract] [Full Text] [Related]

  • 5.
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  • 6. A Turkish case of subcortical/subependymal heterotopia associated with corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation.
    Caksen H, Tuncer O, Ataş B, Demirok A, Unal O, Ikbal M, Odabaş D.
    Genet Couns; 2003 Aug 11; 14(3):343-8. PubMed ID: 14577680
    [Abstract] [Full Text] [Related]

  • 7. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.
    de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP.
    Am J Med Genet; 1995 Nov 20; 59(3):369-74. PubMed ID: 8599364
    [Abstract] [Full Text] [Related]

  • 8. The Cohen syndrome.
    Fryns JP, Van den Berghe H.
    J Genet Hum; 1981 Dec 20; 29(4):449-53. PubMed ID: 7328419
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  • 9.
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  • 10. De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.
    Peippo M, Tengström C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J.
    Genet Couns; 2004 Dec 20; 15(3):341-6. PubMed ID: 15517827
    [Abstract] [Full Text] [Related]

  • 11. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.
    Neilan E, Pikman Y, Kimonis VE.
    Ophthalmic Genet; 2006 Jun 20; 27(2):63-5. PubMed ID: 16754208
    [Abstract] [Full Text] [Related]

  • 12. Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.
    Kantaputra PN, Kunachaichote J, Patikulsila P.
    Am J Med Genet; 2001 Nov 01; 103(4):283-8. PubMed ID: 11746007
    [Abstract] [Full Text] [Related]

  • 13. A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.
    Stoll C, Terzic J, Fischbach M.
    Genet Couns; 1999 Nov 01; 10(4):337-43. PubMed ID: 10631920
    [Abstract] [Full Text] [Related]

  • 14. Marfanoid features and craniosynostosis: report of one case and review.
    Lacombe D, Battin J.
    Clin Dysmorphol; 1993 Jul 01; 2(3):220-4. PubMed ID: 8287183
    [Abstract] [Full Text] [Related]

  • 15. Extreme growth failure and kyphoscoliosis as complications of the distal trisomy 10q syndrome.
    Soekarman D, Fryns JP.
    Genet Couns; 1992 Jul 01; 3(2):111-3. PubMed ID: 1642808
    [Abstract] [Full Text] [Related]

  • 16. Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation.
    Cohen MM, Gorlin RJ, Clark R, Ewing SG, Camfield PR.
    Clin Dysmorphol; 1993 Jan 01; 2(1):39-46. PubMed ID: 8298737
    [Abstract] [Full Text] [Related]

  • 17. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quadrelli R.
    Eur J Med Genet; 2007 Jan 01; 50(3):224-32. PubMed ID: 17329177
    [Abstract] [Full Text] [Related]

  • 18. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
    Ramer JC, Lin AE, Dobyns WB, Winter R, Aymé S, Pallotta R, Ladda RL.
    Am J Med Genet; 1995 Jul 03; 57(3):403-9. PubMed ID: 7545868
    [Abstract] [Full Text] [Related]

  • 19. Toriello-Carey syndrome: evidence for X-linked inheritance.
    Czarnecki P, Lacombe D, Weiss L.
    Am J Med Genet; 1996 Nov 11; 65(4):291-4. PubMed ID: 8923938
    [Abstract] [Full Text] [Related]

  • 20. Phenotypic variability of Cat-Eye syndrome.
    Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.
    Genet Couns; 2001 Nov 11; 12(1):23-34. PubMed ID: 11332976
    [Abstract] [Full Text] [Related]

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