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 *

165 related articles for article (PubMed ID: 21474777)

  • 1. Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
    Khan K; Al-Maskari A; McKibbin M; Carr IM; Booth A; Mohamed M; Siddiqui S; Poulter JA; Parry DA; Logan CV; Hashmi A; Sahi T; Jafri H; Raashid Y; Johnson CA; Markham AF; Toomes C; Rice A; Sheridan E; Inglehearn CF; Ali M
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(7):4294-9. PubMed ID: 21474777
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
    Richter L; Flodman P; Barria von-Bischhoffshausen F; Burch D; Brown S; Nguyen L; Turner J; Spence MA; Bateman JB
    Am J Med Genet A; 2008 Apr; 146A(7):833-42. PubMed ID: 18302245
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p.
    Butt T; Yao W; Kaul H; Xiaodong J; Gradstein L; Zhang Y; Husnain T; Riazuddin S; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2007 Sep; 13():1635-40. PubMed ID: 17893665
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 116(1):154-162.e1. PubMed ID: 19004499
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
    Kaul H; Riazuddin SA; Yasmeen A; Mohsin S; Khan M; Nasir IA; Khan SN; Husnain T; Akram J; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Feb; 16():240-5. PubMed ID: 20161816
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene.
    Green JS; Johnson GJ
    Ophthalmic Paediatr Genet; 1986 Dec; 7(3):187-94. PubMed ID: 3550563
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea].
    Liang XF; Xiao W; Shi L; Hua R; Zhang X
    Zhonghua Yan Ke Za Zhi; 2011 Apr; 47(4):310-3. PubMed ID: 21612679
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.
    Sabir N; Riazuddin SA; Butt T; Iqbal F; Nasir IA; Zafar AU; Qazi ZA; Butt NH; Khan SN; Husnain T; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Dec; 16():2634-8. PubMed ID: 21179239
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
    Khan K; Rudkin A; Parry DA; Burdon KP; McKibbin M; Logan CV; Abdelhamed ZI; Muecke JS; Fernandez-Fuentes N; Laurie KJ; Shires M; Fogarty R; Carr IM; Poulter JA; Morgan JE; Mohamed MD; Jafri H; Raashid Y; Meng N; Piseth H; Toomes C; Casson RJ; Taylor GR; Hammerton M; Sheridan E; Johnson CA; Inglehearn CF; Craig JE; Ali M
    Am J Hum Genet; 2011 Sep; 89(3):464-73. PubMed ID: 21907015
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel
    Panagiotou ES; Fernandez-Fuentes N; Farraj LA; McKibbin M; Elçioglu NH; Jafri H; Cerman E; Parry DA; Logan CV; Johnson CA; Inglehearn CF; Toomes C; Ali M
    Mol Vis; 2022; 28():57-69. PubMed ID: 35693420
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.
    Sabir N; Riazuddin SA; Kaul H; Iqbal F; Nasir IA; Zafar AU; Qazi ZA; Butt NH; Khan SN; Husnain T; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Dec; 16():2911-5. PubMed ID: 21203409
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
    Riazuddin SA; Yasmeen A; Zhang Q; Yao W; Sabar MF; Ahmed Z; Riazuddin S; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
    Yasmeen A; Riazuddin SA; Kaul H; Mohsin S; Khan M; Qazi ZA; Nasir IA; Zafar AU; Khan SN; Husnain T; Akram J; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Apr; 16():682-8. PubMed ID: 20405025
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in
    Iqbal H; Khan SY; Zhou L; Irum B; Ali M; Ahmed MR; Shahzad M; Ali MH; Naeem MA; Riazuddin S; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2020; 26():334-344. PubMed ID: 32355443
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.
    Anjum I; Eiberg H; Baig SM; Tommerup N; Hansen L
    Mol Vis; 2010 Mar; 16():549-55. PubMed ID: 20361012
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
    Wang KJ; Wang S; Cao NQ; Yan YB; Zhu SQ
    Hum Mutat; 2011 Mar; 32(3):E2050-60. PubMed ID: 21972112
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 140(6):558-66. PubMed ID: 16470690
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 15623749
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
    Kaul H; Riazuddin SA; Shahid M; Kousar S; Butt NH; Zafar AU; Khan SN; Husnain T; Akram J; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Mar; 16():511-7. PubMed ID: 20361013
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fine mapping of chromosome 9 locus associated with congenital cataract.
    Kaul H; Hussain S; Mustafa G; Naz S
    Int Ophthalmol; 2018 Jun; 38(3):1187-1192. PubMed ID: 28585112
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.