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Journal Abstract Search

140 related items for PubMed ID: 1799423

  • 1. A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.
    Buntinx IM, Lormans JA, Martin JJ, Dumon JE.
    Genet Couns; 1991; 2(4):237-40. PubMed ID: 1799423
    [No Abstract] [Full Text] [Related]

  • 2. Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.
    Tsukahara M, Matsuo K, Furukawa S.
    Am J Med Genet; 1995 Aug 28; 58(2):159-60. PubMed ID: 8533809
    [Abstract] [Full Text] [Related]

  • 3. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P.
    Genet Couns; 1993 Aug 28; 4(2):147-51. PubMed ID: 8395190
    [Abstract] [Full Text] [Related]

  • 4. Retinitis pigmentosa associated with ectopia lentis.
    Sato H, Wada Y, Abe T, Kawamura M, Wakusawa R, Tamai M.
    Arch Ophthalmol; 2002 Jun 28; 120(6):852-4. PubMed ID: 12049599
    [No Abstract] [Full Text] [Related]

  • 5. Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
    Mégarbané A.
    Am J Med Genet A; 2003 Feb 01; 116A(4):381-4. PubMed ID: 12522796
    [Abstract] [Full Text] [Related]

  • 6. Cohen syndrome with bull's eye macular lesion.
    Resnick K, Zuckerman J, Cotlier E.
    Ophthalmic Paediatr Genet; 1986 Mar 01; 7(1):1-8. PubMed ID: 3703486
    [Abstract] [Full Text] [Related]

  • 7. Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
    Lowry RB, Wood BJ, Cox TA, Hayden MR.
    Am J Med Genet; 1989 Jul 01; 33(3):341-5. PubMed ID: 2801768
    [Abstract] [Full Text] [Related]

  • 8. Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.
    Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D.
    Am J Med Genet A; 2005 Jan 15; 132A(2):189-90. PubMed ID: 15578583
    [Abstract] [Full Text] [Related]

  • 9. Tapetoretinal degeneration and mental retardation associated with microspherophakia and mesodermal abnormalities: a new syndrome?
    Sierpinski-Bart J, Neumann E, Tirosh E, Atias D.
    Metab Pediatr Ophthalmol; 1981 Jan 15; 5(3-4):225-31. PubMed ID: 6273671
    [No Abstract] [Full Text] [Related]

  • 10. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.
    Sugarman GI, Landing BH, Reed WB.
    Clin Pediatr (Phila); 1977 Mar 15; 16(3):225-32. PubMed ID: 837626
    [No Abstract] [Full Text] [Related]

  • 11. "A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia.
    De Ravel TJ, Dillen K, Fryns JP.
    Genet Couns; 2002 Mar 15; 13(4):475-6. PubMed ID: 12558120
    [No Abstract] [Full Text] [Related]

  • 12. X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family.
    Kang WM, Huang CC, Lin SJ.
    Am J Med Genet; 1992 Nov 15; 44(5):619-23. PubMed ID: 1481821
    [Abstract] [Full Text] [Related]

  • 13. Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p).
    Graham W, Brown SM, Shah F, Tonk VS, Kukolich MK.
    Arch Ophthalmol; 1999 Dec 15; 117(12):1648-9. PubMed ID: 10604674
    [No Abstract] [Full Text] [Related]

  • 14. Retinal involvement in two unrelated patients with Myhre syndrome.
    Al Ageeli E, Mignot C, Afenjar A, Whalen S, Dorison N, Mayer M, Esteva B, Dubern B, Momtchilova M, Le Gargasson JF, Bursztyn J, Héron D.
    Eur J Med Genet; 2012 Oct 15; 55(10):541-7. PubMed ID: 22683461
    [Abstract] [Full Text] [Related]

  • 15. [Complete chromosome 22 trisomy syndrome in 2 children with microcephaly and mental retardation].
    Novikov PV, Zaletaeva TA, Khuberian NB, Khlybova GP.
    Pediatriia; 1990 Oct 15; (2):89-92. PubMed ID: 2349049
    [No Abstract] [Full Text] [Related]

  • 16. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
    Halal F, Morel J.
    Am J Med Genet; 1990 Sep 15; 37(1):106-8. PubMed ID: 2240026
    [Abstract] [Full Text] [Related]

  • 17. Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
    Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C.
    Ophthalmic Genet; 1999 Jun 15; 20(2):127-31. PubMed ID: 10420199
    [Abstract] [Full Text] [Related]

  • 18. Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.
    Huson SM, Crowley S, Hall CM, Supramaniam G, Winter RM.
    Clin Dysmorphol; 1993 Jan 15; 2(1):20-7. PubMed ID: 8298734
    [Abstract] [Full Text] [Related]

  • 19. Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son.
    Kawashima H, Tsuji N.
    Clin Genet; 1987 May 15; 31(5):303-7. PubMed ID: 3608216
    [Abstract] [Full Text] [Related]

  • 20. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
    Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D.
    Eur J Med Genet; 2014 May 15; 57(6):288-92. PubMed ID: 24709618
    [Abstract] [Full Text] [Related]

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