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)

  • 21. [Gene mapping and analysis of candidate genes in a Chinese family with autosomal dominant congenital coralliform cataract].
    Ju H; Zhao KX; Wang LM; Wang YC; Ying M; Gao X
    Zhonghua Yan Ke Za Zhi; 2012 Aug; 48(8):713-7. PubMed ID: 23141511
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
    Singh R; Ram J; Kaur G; Prasad R
    Curr Eye Res; 2012 Oct; 37(10):949-54. PubMed ID: 22632133
    [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 homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
    Littink KW; van Genderen MM; Collin RW; Roosing S; de Brouwer AP; Riemslag FC; Venselaar H; Thiadens AA; Hoyng CB; Rohrschneider K; den Hollander AI; Cremers FP; van den Born LI
    Invest Ophthalmol Vis Sci; 2009 May; 50(5):2344-50. PubMed ID: 19074807
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
    Bitner H; Mizrahi-Meissonnier L; Griefner G; Erdinest I; Sharon D; Banin E
    Invest Ophthalmol Vis Sci; 2011 Jul; 52(8):5332-8. PubMed ID: 21467170
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
    Khan AO; Bergmann C; Neuhaus C; Bolz HJ
    Ophthalmic Genet; 2015 Mar; 36(1):79-84. PubMed ID: 25475713
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
    Stambolian D; Ai Y; Sidjanin D; Nesburn K; Sathe G; Rosenberg M; Bergsma DJ
    Nat Genet; 1995 Jul; 10(3):307-12. PubMed ID: 7670469
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Posterior polar cataract: genetic analysis of a large family.
    Finzi S; Li Y; Mitchell TN; Farr A; Maumenee IH; Sallum JM; Sundin O
    Ophthalmic Genet; 2005 Sep; 26(3):125-30. PubMed ID: 16272057
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy.
    Weigell-Weber M; Sarra GM; Kotzot D; Sandkuijl L; Messmer E; Hergersberg M
    Arch Ophthalmol; 2003 Aug; 121(8):1184-8. PubMed ID: 12912698
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
    Pannain S; Weiss RE; Jackson CE; Dian D; Beck JC; Sheffield VC; Cox N; Refetoff S
    J Clin Endocrinol Metab; 1999 Mar; 84(3):1061-71. PubMed ID: 10084596
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
    Pras E; Pras E; Bakhan T; Levy-Nissenbaum E; Lahat H; Assia EI; Garzozi HJ; Kastner DL; Goldman B; Frydman M
    Isr Med Assoc J; 2001 Aug; 3(8):559-62. PubMed ID: 11519376
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A new locus for autosomal dominant congenital cataracts maps to chromosome 3.
    Kramer PL; LaMorticella D; Schilling K; Billingslea AM; Weleber RG; Litt M
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):36-9. PubMed ID: 10634598
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
    Bidinost C; Matsumoto M; Chung D; Salem N; Zhang K; Stockton DW; Khoury A; Megarbane A; Bejjani BA; Traboulsi EI
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1274-80. PubMed ID: 16565358
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
    Ahmad A; Daud S; Kakar N; Nürnberg G; Nürnberg P; Babar ME; Thoenes M; Kubisch C; Ahmad J; Bolz HJ
    Mol Vis; 2011; 17():1940-5. PubMed ID: 21850168
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
    Sajjad N; Goebel I; Kakar N; Cheema AM; Kubisch C; Ahmad J
    BMC Med Genet; 2008 Nov; 9():99. PubMed ID: 19014451
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
    Pras E; Levy-Nissenbaum E; Bakhan T; Lahat H; Assia E; Geffen-Carmi N; Frydman M; Goldman B; Pras E
    Am J Hum Genet; 2002 May; 70(5):1363-7. PubMed ID: 11917274
    [TBL] [Abstract][Full Text] [Related]  

  • 40. SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
    Papić L; Fischer D; Trajanoski S; Höftberger R; Fischer C; Ströbel T; Schmidt WM; Bittner RE; Schabhüttl M; Gruber K; Pieber TR; Janecke AR; Auer-Grumbach M
    Eur J Med Genet; 2011; 54(3):214-9. PubMed ID: 21172462
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.