BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 15370545)

  • 21. Axial Lengths in Children with Recessive Cornea Plana.
    Al Hazimi A; Khan AO
    Ophthalmic Genet; 2015 Jun; 36(2):123-5. PubMed ID: 24303778
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
    Calliari LE; Longui CA; Rocha MN; Faria CD; Kochi C; Melo MR; Melo MB; Monte O
    Genet Mol Res; 2007 May; 6(2):277-83. PubMed ID: 17573657
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Further information regarding KERA and recessive cornea plana.
    Khan AO
    Arch Ophthalmol; 2006 Sep; 124(9):1371-2; author reply 1372. PubMed ID: 16966646
    [No Abstract]   [Full Text] [Related]  

  • 25. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
    Shah SS; Al-Rajhi A; Brandt JD; Mannis MJ; Roos B; Sheffield VC; Syed NA; Stone EM; Fingert JH
    Ophthalmic Genet; 2008 Mar; 29(1):41-5. PubMed ID: 18363173
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.
    Lupo I; Cefalu AB; Bongiorno MR; Daniele O; Valenti V; Noto D; Camarda R; Savettieri G; Aricò M; Averna MR
    Br J Dermatol; 2005 Nov; 153(5):1019-22. PubMed ID: 16225617
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
    Vilchez JJ; Gallano P; Gallardo E; Lasa A; Rojas-García R; Freixas A; De Luna N; Calafell F; Sevilla T; Mayordomo F; Baiget M; Illa I
    Arch Neurol; 2005 Aug; 62(8):1256-9. PubMed ID: 16087766
    [TBL] [Abstract][Full Text] [Related]  

  • 29. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
    Sakata K; Shimizu M; Ino H; Yamaguchi M; Terai H; Fujino N; Hayashi K; Kaneda T; Inoue M; Oda Y; Fujita T; Kaku B; Kanaya H; Mabuchi H
    Circulation; 2005 Jun; 111(25):3352-8. PubMed ID: 15967842
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
    Dudakova L; Palos M; Hardcastle AJ; Liskova P
    Ophthalmic Genet; 2014 Dec; 35(4):252-4. PubMed ID: 23834557
    [No Abstract]   [Full Text] [Related]  

  • 31. Corneal ectasia in a boy with homozygous KERA mutation.
    Khan AO
    Ophthalmic Genet; 2018; 39(1):141-143. PubMed ID: 28799822
    [No Abstract]   [Full Text] [Related]  

  • 32. 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]  

  • 33. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H; Cherif F; Kassar S; Floriddia G; Pascucci M; Daoud W; Osman-Dhahri AB; Boubaker S; Castiglia D; Abdelhak S
    J Dermatol Sci; 2009 May; 54(2):114-20. PubMed ID: 19261445
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
    Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Cantalapiedra D; Lorda-Sanchez I; Rodriguez de Alba M; Ramos C; Ayuso C
    Mol Vis; 2005 Sep; 11():705-12. PubMed ID: 16163268
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
    Longo I; Scala E; Mari F; Caselli R; Pescucci C; Mencarelli MA; Speciale C; Giani M; Bresin E; Caringella DA; Borochowitz ZU; Siriwardena K; Winship I; Renieri A; Meloni I
    Nephrol Dial Transplant; 2006 Mar; 21(3):665-71. PubMed ID: 16338941
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
    Jiang L; Katz BJ; Yang Z; Zhao Y; Faulkner N; Hu J; Baird J; Baehr W; Creel DJ; Zhang K
    Mol Vis; 2005 Feb; 11():143-51. PubMed ID: 15735604
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
    Castaman G; Bertoncello K; Bernardi M; Eikenboom JC; Budde U; Rodeghiero F
    Am J Hematol; 2007 May; 82(5):376-80. PubMed ID: 17109387
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis.
    Sun XK; Chen JF; Xu AE
    Clin Exp Dermatol; 2005 Sep; 30(5):573-4. PubMed ID: 16045695
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
    Naeem M; Muhammad D; Ahmad W
    Br J Dermatol; 2005 Jul; 153(1):46-50. PubMed ID: 16029325
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
    de Vries L; Behar DM; Smirin-Yosef P; Lagovsky I; Tzur S; Basel-Vanagaite L
    J Clin Endocrinol Metab; 2014 Oct; 99(10):E2129-32. PubMed ID: 25062452
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.