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Journal Abstract Search

514 related items for PubMed ID: 7508317

  • 1. Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?
    Thompson EM, Winter RM, Baraitser M.
    Clin Dysmorphol; 1993 Oct; 2(4):301-16. PubMed ID: 7508317
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  • 4. 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; 2(4):317-21. PubMed ID: 8305962
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  • 5. Congenital hypothyroidism in Peters plus syndrome.
    Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T, Kosaki K.
    Ophthalmic Genet; 2006 Jun; 27(2):67-9. PubMed ID: 16754209
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  • 6. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.
    Neilan E, Pikman Y, Kimonis VE.
    Ophthalmic Genet; 2006 Jun; 27(2):63-5. PubMed ID: 16754208
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  • 7. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
    Rutledge JC, Friedman JM, Harrod MJ, Currarino G, Wright CG, Pinckney L, Chen H.
    Am J Med Genet; 1984 Oct; 19(2):255-64. PubMed ID: 6507477
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  • 8. [Nasal dermoid sinus cyst: accidental coincidence or syndrome association?].
    Pausch NC, Frerich B, Hemprich A, Brylla E, Sterker I, Merkenschlager A.
    Klin Padiatr; 2008 Oct; 220(5):321-4. PubMed ID: 18401812
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  • 9. Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: a new entity?
    Jung C, Wolff G, Back E, Stahl M.
    Clin Dysmorphol; 1995 Jan; 4(1):44-51. PubMed ID: 7537583
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  • 10. Peters' anomaly as a consequence of genetic and nongenetic syndromes.
    Kivlin JD, Fineman RM, Crandall AS, Olson RJ.
    Arch Ophthalmol; 1986 Jan; 104(1):61-4. PubMed ID: 3079999
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  • 11. [Eye manifestations of fetal alcohol syndrome].
    Hinzpeter EN, Renz S, Löser H.
    Klin Monbl Augenheilkd; 1992 Jan; 200(1):33-8. PubMed ID: 1583839
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  • 12. The Peters' plus syndrome: a review.
    Maillette de Buy Wenniger-Prick LJ, Hennekam RC.
    Ann Genet; 2002 Jan; 45(2):97-103. PubMed ID: 12119218
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  • 13. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
    Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH.
    Am J Med Genet; 1994 Jul 15; 51(4):591-7. PubMed ID: 7943045
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  • 14. Peters' anomaly. The spectrum of associated ocular and systemic malformations.
    Heon E, Barsoum-Homsy M, Cevrette L, Jacob JL, Milot J, Polemeno R, Musarella MA.
    Ophthalmic Paediatr Genet; 1992 Jun 15; 13(2):137-43. PubMed ID: 1495764
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  • 15. Peters'-plus: a new syndrome.
    van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM.
    Ophthalmic Paediatr Genet; 1984 Dec 15; 4(3):141-5. PubMed ID: 6443615
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  • 16. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats.
    Heinonen TY, Maki M.
    Ann Med; 2009 Dec 15; 41(1):2-10. PubMed ID: 18720094
    [Abstract] [Full Text] [Related]

  • 17. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.
    Lubinsky M, Severn C, Rapoport JM.
    Am J Med Genet; 1983 Mar 15; 14(3):461-6. PubMed ID: 6859098
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  • 18. A new short rib syndrome: report of two cases.
    Beemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC.
    Am J Med Genet; 1983 Jan 15; 14(1):115-23. PubMed ID: 6829599
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  • 19. Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.
    Van Daele SG, Van Coster RN, Meire F, Smets AM, Leroy JG.
    Am J Med Genet; 1996 Oct 28; 65(3):205-8. PubMed ID: 9240744
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  • 20. [Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].
    Ruprecht KW, Majewski F.
    Klin Monbl Augenheilkd; 1978 May 28; 172(5):708-15. PubMed ID: 672092
    [Abstract] [Full Text] [Related]

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