These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 1840995)

  • 1. Leber's congenital amaurosis.
    De Laey JJ
    Bull Soc Belge Ophtalmol; 1991; 241():41-50. PubMed ID: 1840995
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.
    Yano S; Oda K; Watanabe Y; Watanabe S; Matsuishi T; Kojima K; Abe T; Kato H
    Am J Med Genet; 1998 Aug; 78(5):429-32. PubMed ID: 9714009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).
    Ellis DS; Heckenlively JR; Martin CL; Lachman RS; Sakati NA; Rimoin DL
    Am J Ophthalmol; 1984 Feb; 97(2):233-9. PubMed ID: 6696034
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
    Traboulsi EI; Koenekoop R; Stone EM
    Ophthalmic Genet; 2006 Dec; 27(4):113-5. PubMed ID: 17148037
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis.
    Lambert SR; Kriss A; Taylor D; Coffey R; Pembrey M
    Am J Ophthalmol; 1989 Jun; 107(6):624-31. PubMed ID: 2658617
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.
    Casteels I; Spileers W; Demaerel P; Casaer P; De Cock P; Dralands L; Missotten L
    Neuropediatrics; 1996 Aug; 27(4):189-93. PubMed ID: 8892367
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Concordance and recessive inheritance of Leber congenital amaurosis.
    Lambert SR; Sherman S; Taylor D; Kriss A; Coffey R; Pembrey M
    Am J Med Genet; 1993 May; 46(3):275-7. PubMed ID: 8488871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital stationary night blindness presenting as Leber's congenital amaurosis.
    Weleber RG; Tongue AC
    Arch Ophthalmol; 1987 Mar; 105(3):360-5. PubMed ID: 3493759
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Leber's congenital amaurosis and mental retardation.
    Tipton RE; Hussels IE
    Birth Defects Orig Artic Ser; 1971 Mar; 7(3):198. PubMed ID: 5173144
    [No Abstract]   [Full Text] [Related]  

  • 10. Leber's congenital amaurosis associated with high hyperopia in four sisters.
    Babel J; Klein D; Roth A
    Ophthalmic Paediatr Genet; 1989 Mar; 10(1):55-61. PubMed ID: 2662098
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.
    Schroeder R; Mets MB; Maumenee IH
    Arch Ophthalmol; 1987 Mar; 105(3):356-9. PubMed ID: 3827712
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Leber's congenital amaurosis. Is mental retardation a frequent associated defect?
    Nickel B; Hoyt CS
    Arch Ophthalmol; 1982 Jul; 100(7):1089-92. PubMed ID: 7092650
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.
    Ehara H; Nakano C; Ohno K; Goto YI; Takeshita K
    Am J Med Genet; 1997 Aug; 71(3):258-66. PubMed ID: 9268092
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [From the symptom to electroretinography diagnosis].
    Niemeyer G
    Klin Monbl Augenheilkd; 1999 May; 214(5):328-31. PubMed ID: 10420379
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Joubert's syndrome: report of 12 cases].
    Barreirinho MS; Teixeira J; Moreira NC; Bastos S; Gonçalvez S; Barbot MC
    Rev Neurol; 2001 May 1-15; 32(9):812-7. PubMed ID: 11424029
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical characteristics of Leber's amaurosis and its place in the structure of blindness and amblyopia in children].
    Khvatova AV; Orlovskaia LS; Katargina LA; Koval'chuk NA; Korneichuk VV
    Vestn Oftalmol; 1983; (1):38-40. PubMed ID: 6829104
    [No Abstract]   [Full Text] [Related]  

  • 17. [Leber congenital amaurosis: diagnosis, follow-up and differential diagnosis].
    Grieshaber MC; Niemeyer G
    Klin Monbl Augenheilkd; 1998 May; 212(5):309-10. PubMed ID: 9677564
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ERG and VEP follow-up study in children with Leber's congenital amaurosis.
    Brecelj J; Stirn-Kranjc B
    Eye (Lond); 1999; 13 ( Pt 1)():47-54. PubMed ID: 10396384
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Macular coloboma type Leber's congenital amaurosis].
    Kiratli H; Bozkurt B
    J Fr Ophtalmol; 2002 Jan; 25(1):67-70. PubMed ID: 11965122
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life.
    Smith D; Oestreicher J; Musarella MA
    Ophthalmology; 1990 Sep; 97(9):1156-61. PubMed ID: 2234847
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.