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    Results: 1 to 20 of 128

    1.

    Genotypic and phenotypic heterogeneity in familial microcoria.

    Bremner FD, Houlden H, Smith SE.

    Br J Ophthalmol. 2004 Apr;88(4):469-73.PMID: 15031157 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree.

    Ramprasad VL, Sripriya S, Ronnie G, Nancarrow D, Saxena S, Hemamalini A, Kumar D, Vijaya L, Kumaramanickavel G.

    Mol Vis. 2005 Nov 3;11:934-40.PMID: 16288197 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Ocular and nonocular findings in patients with aniridia.

    Valenzuela A, Cline RA.

    Can J Ophthalmol. 2004 Oct;39(6):632-8.PMID: 15559649 [PubMed - indexed for MEDLINE]Related articles

    4.

    Mapping of a congenital microcoria locus to 13q31-q32.

    Rouillac C, Roche O, Marchant D, Bachner L, Kobetz A, Toulemont PJ, Orssaud C, Urvoy M, Odent S, Le Marec B, Abitbol M, Dufier JL.

    Am J Hum Genet. 1998 May;62(5):1117-22.PMID: 9545411 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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.PMID: 6855021 [PubMed - indexed for MEDLINE]Related articles

    6.

    Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.

    Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM.

    Am J Med Genet A. 2004 Oct 1;130A(2):138-45. Review.PMID: 15372515 [PubMed - indexed for MEDLINE]Related articles

    7.

    Congenital microcoria associated with late-onset developmental glaucoma.

    Tawara A, Itou K, Kubota T, Harada Y, Tou N, Hirose N.

    J Glaucoma. 2005 Oct;14(5):409-13.PMID: 16148591 [PubMed - indexed for MEDLINE]Related articles

    8.

    Association of congenital microcoria with myopia and glaucoma. A study of 23 patients with congenital microcoria.

    Toulemont PJ, Urvoy M, Coscas G, Lecallonnec A, Cuvilliers AF.

    Ophthalmology. 1995 Feb;102(2):193-8.PMID: 7862406 [PubMed - indexed for MEDLINE]Related articles

    9.

    The ultrastructural pathological features of congenital microcoria. A case report.

    Simpson WA, Parsons MA.

    Arch Ophthalmol. 1989 Jan;107(1):99-102.PMID: 2910294 [PubMed - indexed for MEDLINE]Related articles

    10.

    Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping.

    Honkanen RA, Jampol LM, Fingert JH, Moore MD, Taylor CM, Stone EM, Alward WL.

    Am J Ophthalmol. 2007 May;143(5):788-794. Epub 2007 Mar 23.PMID: 17362864 [PubMed - indexed for MEDLINE]Related articles

    11.

    Phenotypic and genotypic heterogeneity in familial Milroy lymphedema.

    Witte MH, Erickson R, Bernas M, Andrade M, Reiser F, Conlon W, Hoyme HE, Witte CL.

    Lymphology. 1998 Dec;31(4):145-55.PMID: 9949386 [PubMed - indexed for MEDLINE]Related articles

    12.

    Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.

    Keilhauer CN, Meigen T, Weber BH.

    Arch Ophthalmol. 2006 Jul;124(7):1020-7.PMID: 16832026 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

    Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

    Am J Med Genet A. 2006 Mar 15;140(6):558-66.PMID: 16470690 [PubMed - indexed for MEDLINE]Related articles

    14.

    Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

    Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.

    Ophthalmology. 2005 Sep;112(9):1592-8.PMID: 16019073 [PubMed - indexed for MEDLINE]Related articles

    15.

    [Preliminary linkage analysis of a Chinese family with benign familial infantile convulsion]

    Xiong G, Deng FY, Xiao B, Yang XS, Ning JC, Wu ZG, Wang K, Deng HW.

    Zhonghua Er Ke Za Zhi. 2004 Jun;42(6):424-8. Chinese. PMID: 15265426 [PubMed - indexed for MEDLINE]Related articles

    16.

    Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes.

    Sharan S, Mirzayans F, Footz T, Walter M, Levin AV.

    J AAPOS. 2008 Aug;12(4):340-3. Epub 2008 Apr 25.PMID: 18440259 [PubMed - indexed for MEDLINE]Related articles

    17.

    Hereditary cases of congenital microcoria and goniodysgenesis.

    Mazzeo V, Gaiba G, Rossi A.

    Ophthalmic Paediatr Genet. 1986 Aug;7(2):121-5.PMID: 3785880 [PubMed - indexed for MEDLINE]Related articles

    18.

    Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

    Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G.

    Invest Ophthalmol Vis Sci. 2005 Jan;46(1):17-23.PMID: 15623749 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family.

    Malik S, Grzeschik KH.

    Hum Genet. 2008 Mar;123(2):197-205. Epub 2008 Jan 10.PMID: 18193458 [PubMed - indexed for MEDLINE]Related articles

    20.

    Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.

    Minelli A, Maserati E, Rossi G, Bernardo ME, De Stefano P, Cecchini MP, Valli R, Albano V, Pierani P, Leszl A, Sainati L, Lo Curto F, Danesino C, Locatelli F, Pasquali F.

    Genes Chromosomes Cancer. 2004 Jul;40(3):165-71.PMID: 15138996 [PubMed - indexed for MEDLINE]Related articles

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