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 *

336 related articles for article (PubMed ID: 24211322)

  • 1. 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]  

  • 2. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.
    Schmidt D; Shin YS; Auw-Haedrich C; Tacke U
    Acta Ophthalmol; 2011 Aug; 89(5):489-94. PubMed ID: 20222886
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
    Chen J; Wang Q; Cabrera PE; Zhong Z; Sun W; Jiao X; Chen Y; Govindarajan G; Naeem MA; Khan SN; Ali MH; Assir MZ; Rahman FU; Qazi ZA; Riazuddin S; Akram J; Riazuddin SA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):2207-2217. PubMed ID: 28418495
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
    Maraini G; Hejtmancik JF; Shiels A; Mackay DS; Aldigeri R; Jiao XD; Williams SL; Sperduto RD; Reed G
    Mol Vis; 2003 Aug; 9():397-400. PubMed ID: 12942049
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Shevach E; Harel A; Storm T; Sagi M; Eli D; Merin S; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):1149-60. PubMed ID: 24474277
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.
    Chograni M; Alahdal HM; Rejili M
    Hum Genomics; 2023 May; 17(1):41. PubMed ID: 37179318
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
    Khan AO; Aldahmesh MA; Meyer B
    Am J Ophthalmol; 2007 Dec; 144(6):949-952. PubMed ID: 17937925
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
    Collin RW; van den Born LI; Klevering BJ; de Castro-Miró M; Littink KW; Arimadyo K; Azam M; Yazar V; Zonneveld MN; Paun CC; Siemiatkowska AM; Strom TM; Hehir-Kwa JY; Kroes HY; de Faber JT; van Schooneveld MJ; Heckenlively JR; Hoyng CB; den Hollander AI; Cremers FP
    Invest Ophthalmol Vis Sci; 2011 Apr; 52(5):2227-39. PubMed ID: 21217109
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
    Zhang Q; Guo X; Xiao X; Yi J; Jia X; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():890-900. PubMed ID: 15570218
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
    Hansen L; Yao W; Eiberg H; Kjaer KW; Baggesen K; Hejtmancik JF; Rosenberg T
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):3937-44. PubMed ID: 17724170
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.
    Chograni M; Alkuraya FS; Ourteni I; Maazoul F; Lariani I; Chaabouni HB
    Clin Genet; 2015 Sep; 88(3):283-7. PubMed ID: 25358429
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
    Riazuddin SA; Yasmeen A; Yao W; Sergeev YV; Zhang Q; Zulfiqar F; Riaz A; Riazuddin S; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):2100-6. PubMed ID: 15914629
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
    Irum B; Khan SY; Ali M; Kaul H; Kabir F; Rauf B; Fatima F; Nadeem R; Khan AO; Al Obaisi S; Naeem MA; Nasir IA; Khan SN; Husnain T; Riazuddin S; Akram J; Eghrari AO; Riazuddin SA
    PLoS One; 2016; 11(11):e0162620. PubMed ID: 27814360
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
    González-Huerta LM; Messina-Baas O; Urueta H; Toral-López J; Cuevas-Covarrubias SA
    Gene; 2013 Oct; 529(1):181-5. PubMed ID: 23954869
    [TBL] [Abstract][Full Text] [Related]  

  • 20. RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family.
    Chograni M; Alkuraya FS; Maazoul F; Lariani I; Chaabouni-Bouhamed H
    Invest Ophthalmol Vis Sci; 2014 Dec; 56(2):1261-6. PubMed ID: 25525169
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.