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Journal Abstract Search

147 related items for PubMed ID: 8669449

  • 1. SHORT syndrome: a new case with probable autosomal dominant inheritance.
    Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M.
    Am J Med Genet; 1996 Jan 11; 61(2):178-81. PubMed ID: 8669449
    [Abstract] [Full Text] [Related]

  • 2. SHORT syndrome: a case with high hyperopia and astigmatism.
    Bonnel S, Dureau P, LeMerrer M, Dufier JL.
    Ophthalmic Genet; 2000 Dec 11; 21(4):235-8. PubMed ID: 11135494
    [Abstract] [Full Text] [Related]

  • 3. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes.
    Aarskog D, Ose L, Pande H, Eide N.
    Am J Med Genet; 1983 May 11; 15(1):29-38. PubMed ID: 6407320
    [Abstract] [Full Text] [Related]

  • 4. [The Rieger syndrome. A clinical study. A study of 4 generations in one family with the Rieger syndrome].
    Rusu V.
    Oftalmologia; 1997 May 11; 41(3):234-7. PubMed ID: 9409970
    [Abstract] [Full Text] [Related]

  • 5. [Multiple pterygium syndrome: description of a new clinical case].
    Galasso C, Arci F, Carnazza S, Sanna ML, Serrao Arnone D, Spagnoli A, Boscherini B.
    Pediatr Med Chir; 1993 May 11; 15(1):111-4. PubMed ID: 8488119
    [Abstract] [Full Text] [Related]

  • 6. A new syndrome with distinct facial and auricular malformations and dominant inheritance.
    Simosa V, Penchaszadeh VB, Bustos T.
    Am J Med Genet; 1989 Feb 11; 32(2):184-6. PubMed ID: 2929657
    [Abstract] [Full Text] [Related]

  • 7. Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?
    Ioan DM, Fryns JP.
    Genet Couns; 2002 Feb 11; 13(3):353-6. PubMed ID: 12416645
    [Abstract] [Full Text] [Related]

  • 8. Ruvalcaba syndrome: autosomal dominant inheritance.
    Sugio Y, Kajii T.
    Am J Med Genet; 1984 Dec 11; 19(4):741-53. PubMed ID: 6517098
    [Abstract] [Full Text] [Related]

  • 9. The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.
    Ioan DM, Dumitriu L, Belengeariu V, Fryns JP.
    Genet Couns; 1997 Dec 11; 8(2):87-90. PubMed ID: 9219005
    [Abstract] [Full Text] [Related]

  • 10. Rieger anomaly and congenital glaucoma in the SHORT syndrome.
    Brodsky MC, Whiteside-Michel J, Merin LM.
    Arch Ophthalmol; 1996 Sep 11; 114(9):1146-7. PubMed ID: 8790109
    [No Abstract] [Full Text] [Related]

  • 11. Case report on SHORT syndrome.
    Joo SH, Raygada M, Gibney S, Farzaneh I, Rennert OM.
    Clin Dysmorphol; 1999 Jul 11; 8(3):219-21. PubMed ID: 10457859
    [Abstract] [Full Text] [Related]

  • 12. [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
    Kamińska A, Sokołowska-Oracz A, Pawluczyk-Dyjecińska M, Szaflik JP.
    Klin Oczna; 2007 Jul 11; 109(7-9):321-6. PubMed ID: 18260289
    [Abstract] [Full Text] [Related]

  • 13. Report of a case and further delineation of the SHORT syndrome.
    Toriello HV, Wakefield S, Komar K, Higgins JV, Waterman DF.
    Am J Med Genet; 1985 Oct 11; 22(2):311-4. PubMed ID: 4050863
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant inheritance of the Aarskog syndrome.
    Grier RE, Farrington FH, Kendig R, Mamunes P.
    Am J Med Genet; 1983 May 11; 15(1):39-46. PubMed ID: 6344635
    [Abstract] [Full Text] [Related]

  • 15. Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
    Dundar M, Erkilic K, Argun M, Caglayan AO, Comeglio P, Koseoglu E, Matyas G, Child AH.
    Genet Couns; 2008 May 11; 19(3):319-30. PubMed ID: 18990988
    [Abstract] [Full Text] [Related]

  • 16. Axenfeld-Rieger syndrome (ARS): A review and case report.
    Waldron JM, McNamara C, Hewson AR, McNamara CM.
    Spec Care Dentist; 2010 May 11; 30(5):218-22. PubMed ID: 20831741
    [Abstract] [Full Text] [Related]

  • 17. Autosomal dominant inheritance in Setleis syndrome.
    Masuno M, Imaizumi K, Makita Y, Nakamura M, Kuroki Y.
    Am J Med Genet; 1995 May 22; 57(1):57-60. PubMed ID: 7645599
    [Abstract] [Full Text] [Related]

  • 18. Multiple lentigines syndrome in a Nigerian family.
    Kubeyinje EP, Onunu AN, Obasohan AO.
    Trop Geogr Med; 1993 May 22; 45(3):135-7. PubMed ID: 8362457
    [Abstract] [Full Text] [Related]

  • 19. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?
    Slavotinek AM, Pike M, Mills K, Hurst JA.
    Am J Med Genet; 1996 Mar 01; 62(1):42-7. PubMed ID: 8779323
    [Abstract] [Full Text] [Related]

  • 20. Bone and joint manifestations of Rieger's syndrome: a report of a family.
    Koshino T, Konno T, Ohzeki T.
    J Pediatr Orthop; 1989 Mar 01; 9(2):224-30. PubMed ID: 2494224
    [Abstract] [Full Text] [Related]

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