BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

79 related articles for article (PubMed ID: 21918571)

  • 21. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
    Grønskov K; Ek J; Sand A; Scheller R; Bygum A; Brixen K; Brondum-Nielsen K; Rosenberg T
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1058-64. PubMed ID: 19060277
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
    Straniero L; Rimoldi V; Soldà G; Mauri L; Manfredini E; Andreucci E; Bargiacchi S; Penco S; Gesu GP; Del Longo A; Piozzi E; Asselta R; Primignani P
    J Hum Genet; 2015 Sep; 60(9):467-71. PubMed ID: 26016411
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Albinism in Africa: a medical and social emergency.
    Brilliant MH
    Int Health; 2015 Jul; 7(4):223-5. PubMed ID: 26063702
    [No Abstract]   [Full Text] [Related]  

  • 24. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
    Kawai M; Suzuki T; Ito S; Inagaki K; Suzuki N; Tomita Y
    Dermatology; 2005; 210(4):322-3. PubMed ID: 15942220
    [TBL] [Abstract][Full Text] [Related]  

  • 25. In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.
    Kamaraj B; Gopalakrishnan C; Purohit R
    Cell Biochem Biophys; 2014 Dec; 70(3):1923-32. PubMed ID: 25060099
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutation analysis of a Chinese family with oculocutaneous albinism.
    Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
    Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.
    Kamaraj B; Purohit R
    J Cell Biochem; 2016 Nov; 117(11):2608-19. PubMed ID: 27019209
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
    Oki R; Yamada K; Nakano S; Kimoto K; Yamamoto K; Kondo H; Kubota T
    Invest Ophthalmol Vis Sci; 2017 Feb; 58(2):1008-1016. PubMed ID: 28192564
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
    Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
    Hum Genet; 2009 Apr; 125(3):340. PubMed ID: 19309806
    [No Abstract]   [Full Text] [Related]  

  • 30. Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.
    Reinders A; Ward JM
    Mol Med Rep; 2015 Jul; 12(1):1393-8. PubMed ID: 25760657
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
    Wei AH; Yang XM; Lian S; Li W
    Chin Med J (Engl); 2013 Jan; 126(2):226-30. PubMed ID: 23324268
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
    Preising MN; Forster H; Tan H; Lorenz B; de Jong PT; Plomp AS
    Mol Vis; 2007 Oct; 13():1851-5. PubMed ID: 17960121
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
    Lee ST; Nicholls RD; Bundey S; Laxova R; Musarella M; Spritz RA
    N Engl J Med; 1994 Feb; 330(8):529-34. PubMed ID: 8302318
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
    Johanson HC; Chen W; Wicking C; Sturm RA
    J Hum Genet; 2010 Feb; 55(2):103-11. PubMed ID: 20019752
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
    Zhang L; Xu B; Zhong Y; Chen X; Zheng H; Jiang W; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):318-21. PubMed ID: 23744323
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing.
    Xue JJ; Xue JF; Xue HQ; Guo YY; Liu Y; Ouyang N
    Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706749
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].
    Duan HL; Zheng H; Li HY
    Yi Chuan; 2005 Nov; 27(6):984-8. PubMed ID: 16378950
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
    Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
    Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
    Urtatiz O; Sanabria D; Lattig MC
    J Dermatol Sci; 2014 Dec; 76(3):260-2. PubMed ID: 25455140
    [No Abstract]   [Full Text] [Related]  

  • 40. [Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].
    Lyu Y; Huang J; Zhang K; Liu G; Gao M; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):73-77. PubMed ID: 28186599
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 4.