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Journal Abstract Search

144 related items for PubMed ID: 9545411

  • 21. Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis.
    Tawara A, Inomata H.
    Jpn J Ophthalmol; 1983; 27(1):63-72. PubMed ID: 6855021
    [Abstract] [Full Text] [Related]

  • 22. Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees.
    Wiggs JL, Haines JL, Paglinauan C, Fine A, Sporn C, Lou D.
    Genomics; 1994 May 15; 21(2):299-303. PubMed ID: 8088822
    [Abstract] [Full Text] [Related]

  • 23. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
    Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau GA.
    Hum Mol Genet; 1996 Apr 15; 5(4):543-7. PubMed ID: 8845850
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  • 24. Congenital Microcoria: Clinical Features and Molecular Genetics.
    Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L.
    Genes (Basel); 2021 Apr 22; 12(5):. PubMed ID: 33922078
    [Abstract] [Full Text] [Related]

  • 25. Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
    Walter MA, Mirzayans F, Mears AJ, Hickey K, Pearce WG.
    Ophthalmology; 1996 Nov 22; 103(11):1907-15. PubMed ID: 8942889
    [Abstract] [Full Text] [Related]

  • 26. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.
    Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS.
    Genomics; 1995 Nov 20; 30(2):171-7. PubMed ID: 8586416
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  • 27. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.
    Yang X, She C, Guo J, Yu AC, Lu Y, Shi X, Feng G, He L.
    Am J Hum Genet; 2000 Mar 20; 66(3):892-903. PubMed ID: 10712204
    [Abstract] [Full Text] [Related]

  • 28. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.
    Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M.
    Hum Mol Genet; 1996 Aug 20; 5(8):1199-203. PubMed ID: 8842741
    [Abstract] [Full Text] [Related]

  • 29. Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.
    Basel-Vanagaite L, Alkelai A, Straussberg R, Magal N, Inbar D, Mahajna M, Shohat M.
    J Med Genet; 2003 Oct 20; 40(10):729-32. PubMed ID: 14569116
    [Abstract] [Full Text] [Related]

  • 30. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
    Evans JC, Frayling TM, Ellard S, Gutowski NJ.
    Hum Genet; 2000 Jun 20; 106(6):636-8. PubMed ID: 10942112
    [Abstract] [Full Text] [Related]

  • 31. A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.
    Vanita, Singh JR, Sarhadi VK, Singh D, Reis A, Rueschendorf F, Becker-Follmann J, Jung M, Sperling K.
    Am J Hum Genet; 2001 Feb 20; 68(2):509-14. PubMed ID: 11133359
    [Abstract] [Full Text] [Related]

  • 32. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
    Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA.
    Eur J Hum Genet; 2000 May 20; 8(5):372-80. PubMed ID: 10854098
    [Abstract] [Full Text] [Related]

  • 33. A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q.
    Wang DY, Fan BJ, Chua JK, Tam PO, Leung CK, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2006 Dec 20; 47(12):5315-21. PubMed ID: 17122119
    [Abstract] [Full Text] [Related]

  • 34. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
    Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF.
    Am J Hum Genet; 1999 Apr 20; 64(4):1110-8. PubMed ID: 10090896
    [Abstract] [Full Text] [Related]

  • 35. Linkage of the locus for canine dewclaw to chromosome 16.
    Park K, Kang J, Park S, Ha J, Park C.
    Genomics; 2004 Feb 20; 83(2):216-24. PubMed ID: 14706450
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