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 *

221 related articles for article (PubMed ID: 18596884)

  • 21. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
    Santhiya ST; Manisastry SM; Rawlley D; Malathi R; Anishetty S; Gopinath PM; Vijayalakshmi P; Namperumalsamy P; Adamski J; Graw J
    Invest Ophthalmol Vis Sci; 2004 Oct; 45(10):3599-607. PubMed ID: 15452067
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
    Devi RR; Reena C; Vijayalakshmi P
    Mol Vis; 2005 Oct; 11():846-52. PubMed ID: 16254549
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel GJA8 mutation causing a recessive triangular cataract.
    Schmidt W; Klopp N; Illig T; Graw J
    Mol Vis; 2008 May; 14():851-6. PubMed ID: 18483562
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The mouse lens fiber-cell intrinsic membrane protein MP19 gene (Lim2) and granule membrane protein GMP-17 gene (Nkg7): Isolation and sequence analysis of two neighboring genes.
    Zhou L; Li X; Church RL
    Mol Vis; 2001 Apr; 7():79-88. PubMed ID: 11290961
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
    Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ
    Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.
    Chen JH; Qiu J; Chen H; Pang CP; Zhang M
    Eye (Lond); 2014 Dec; 28(12):1511-6. PubMed ID: 25301372
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
    Gu F; Li R; Ma XX; Shi LS; Huang SZ; Ma X
    Mol Vis; 2006 Jan; 12():26-31. PubMed ID: 16446699
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
    Narumi Y; Nishina S; Tokimitsu M; Aoki Y; Kosaki R; Wakui K; Azuma N; Murata T; Takada F; Fukushima Y; Kosho T
    Am J Med Genet A; 2014 May; 164A(5):1272-6. PubMed ID: 24664492
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel mutation of
    Pei R; Liang PF; Ye W; Li J; Ma JY; Zhou J
    Int J Ophthalmol; 2020; 13(10):1512-1520. PubMed ID: 33078099
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.
    Fernández-Alcalde C; Nieves-Moreno M; Noval S; Peralta JM; Montaño VEF; Del Pozo Á; Santos-Simarro F; Vallespín E
    Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33923544
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).
    Francis P; Berry V; Bhattacharya S; Moore A
    Br J Ophthalmol; 2000 Dec; 84(12):1376-9. PubMed ID: 11090476
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.
    Shiels A; King JM; Mackay DS; Bassnett S
    Invest Ophthalmol Vis Sci; 2007 Feb; 48(2):500-8. PubMed ID: 17251442
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutation screening in autosomal dominant congenital cataract families from North India.
    Goyal S; Singh R; Singh JR; Vanita V
    Mol Genet Genomics; 2023 Nov; 298(6):1279-1288. PubMed ID: 37458831
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
    Forshew T; Johnson CA; Khaliq S; Pasha S; Willis C; Abbasi R; Tee L; Smith U; Trembath RC; Mehdi SQ; Moore AT; Maher ER
    Hum Genet; 2005 Sep; 117(5):452-9. PubMed ID: 15959809
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.
    Sultana A; Garg P; Ramamurthy B; Vemuganti GK; Kannabiran C
    Mol Vis; 2007 Jul; 13():1327-32. PubMed ID: 17679935
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.
    Wang L; Chen Y; Chen X; Sun X
    Indian J Ophthalmol; 2016 Jul; 64(7):508-12. PubMed ID: 27609163
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
    Chacon-Camacho OF; Buentello-Volante B; Velázquez-Montoya R; Ayala-Ramirez R; Zenteno JC
    Gene; 2014 Jan; 534(2):218-21. PubMed ID: 24211322
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.