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Journal Abstract Search

125 related items for PubMed ID: 27892788

  • 1. Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
    Khan KN, Carss K, Raymond FL, Islam F, Nihr BioResource-Rare Diseases Consortium, Moore AT, Michaelides M, Arno G.
    Ophthalmic Genet; 2017; 38(5):465-466. PubMed ID: 27892788
    [Abstract] [Full Text] [Related]

  • 2. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
    Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R.
    PLoS One; 2012; 7(11):e50205. PubMed ID: 23189188
    [Abstract] [Full Text] [Related]

  • 3. Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.
    Kaukonen M, Woods S, Ahonen S, Lemberg S, Hellman M, Hytönen MK, Permi P, Glaser T, Lohi H.
    Cell Rep; 2018 May 29; 23(9):2643-2652. PubMed ID: 29847795
    [Abstract] [Full Text] [Related]

  • 4. A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.
    Cehajic-Kapetanovic J, Jasani KM, Shanks M, Clouston P, MacLaren RE.
    Ophthalmic Genet; 2020 Jun 29; 41(3):288-292. PubMed ID: 32323592
    [Abstract] [Full Text] [Related]

  • 5. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
    Abouzeid H, Meire FM, Osman I, ElShakankiri N, Bolay S, Munier FL, Schorderet DF.
    Ophthalmology; 2009 Jan 29; 116(1):154-162.e1. PubMed ID: 19004499
    [Abstract] [Full Text] [Related]

  • 6. BIOCHEMICAL FINDINGS IN HUMAN RETINITIS PIGMENTOSA WITH PARTICULAR RELATION TO VITAMIN A DEFICIENCY.
    Campbell DA, Tonks EL.
    Br J Ophthalmol; 1962 Mar 29; 46(3):151-64. PubMed ID: 18170767
    [No Abstract] [Full Text] [Related]

  • 7. Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
    Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N.
    J Med Genet; 2023 Dec 21; 61(1):84-92. PubMed ID: 37586836
    [Abstract] [Full Text] [Related]

  • 8. RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.
    Kessel L, Bertelsen M, Grønskov K.
    Ophthalmic Genet; 2022 Dec 21; 43(6):876-881. PubMed ID: 36317196
    [Abstract] [Full Text] [Related]

  • 9. New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
    Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morlé L.
    Arch Ophthalmol; 2007 Feb 21; 125(2):213-6. PubMed ID: 17296897
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
    Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, Zenteno JC.
    Am J Ophthalmol; 2008 Aug 21; 146(2):323-328. PubMed ID: 18554571
    [Abstract] [Full Text] [Related]

  • 11. Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
    Xiao X, Li S, Zhang Q.
    Ophthalmic Genet; 2012 Jun 21; 33(2):119-21. PubMed ID: 22171686
    [Abstract] [Full Text] [Related]

  • 12. A case of human vitamin A deficiency caused by an inherited defect in retinol-binding protein without clinical symptoms except night blindness.
    Wolf G.
    Nutr Rev; 1999 Aug 21; 57(8):258-60. PubMed ID: 10518414
    [Abstract] [Full Text] [Related]

  • 13. Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.
    Huang XF, Huang ZQ, Lin D, Dai ML, Wang QF, Chen ZJ, Jin ZB, Wang Y.
    Sci Rep; 2017 Aug 22; 7(1):9064. PubMed ID: 28831107
    [Abstract] [Full Text] [Related]

  • 14. [Genetic counseling in eye diseases (author's transl)].
    Burow B, Theile U.
    Albrecht Von Graefes Arch Klin Exp Ophthalmol; 1973 Nov 06; 188(4):307-21. PubMed ID: 4543802
    [No Abstract] [Full Text] [Related]

  • 15. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
    Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC.
    Mol Vis; 2006 Dec 04; 12():1483-9. PubMed ID: 17167404
    [Abstract] [Full Text] [Related]

  • 16. Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy.
    Hornby SJ, Ward SJ, Gilbert CE.
    Med Sci Monit; 2003 Nov 04; 9(11):HY23-6. PubMed ID: 14586282
    [Abstract] [Full Text] [Related]

  • 17. De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.
    DeYoung C, Guan B, Ullah E, Blain D, Hufnagel RB, Brooks BP.
    Ophthalmic Genet; 2022 Aug 04; 43(4):513-517. PubMed ID: 35318877
    [Abstract] [Full Text] [Related]

  • 18. Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
    Fledelius HC.
    Acta Ophthalmol Scand Suppl; 1996 Aug 04; (219):23-6. PubMed ID: 8741111
    [Abstract] [Full Text] [Related]

  • 19. Corneal involvement in autosomal dominant coloboma/microphthalmos.
    Pearce WG.
    Can J Ophthalmol; 1986 Dec 04; 21(7):291-4. PubMed ID: 3801978
    [Abstract] [Full Text] [Related]

  • 20. Ocular coloboma: Genetic variants reveal a dynamic model of eye development.
    Yoon KH, Fox SC, Dicipulo R, Lehmann OJ, Waskiewicz AJ.
    Am J Med Genet C Semin Med Genet; 2020 Sep 04; 184(3):590-610. PubMed ID: 32852110
    [Abstract] [Full Text] [Related]

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