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 *

201 related articles for article (PubMed ID: 35685462)

  • 61. Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
    Khalil R; Ali D; Mwafi N; Alsaraireh A; Obeidat L; Albsoul E; Al Sbou' I
    Biomed Res Int; 2021; 2021():1515641. PubMed ID: 34235214
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.
    Ahmad MSZ; Ahmed M; Khedr M; Borgia A; Madden A; Ranganath LR; Kaye S
    JIMD Rep; 2022 Jul; 63(4):351-360. PubMed ID: 35822094
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Histological and Ultrastructural Characterization of Alkaptonuric Tissues.
    Millucci L; Bernardini G; Spreafico A; Orlandini M; Braconi D; Laschi M; Geminiani M; Lupetti P; Giorgetti G; Viti C; Frediani B; Marzocchi B; Santucci A
    Calcif Tissue Int; 2017 Jul; 101(1):50-64. PubMed ID: 28271171
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Natural history of alkaptonuria revisited: analyses based on scoring systems.
    Ranganath LR; Cox TF
    J Inherit Metab Dis; 2011 Dec; 34(6):1141-51. PubMed ID: 21748407
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
    Braconi D; Bianchini C; Bernardini G; Laschi M; Millucci L; Spreafico A; Santucci A
    J Inherit Metab Dis; 2011 Dec; 34(6):1163-76. PubMed ID: 21874298
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots.
    Jacomelli G; Micheli V; Bernardini G; Millucci L; Santucci A
    JIMD Rep; 2017; 31():51-56. PubMed ID: 27074788
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Alkaptonuria in France: past experience and lessons for the future.
    Aquaron RR
    J Inherit Metab Dis; 2011 Dec; 34(6):1115-26. PubMed ID: 21927854
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients.
    Soltysova A; Sekelska M; Zatkova A
    Eur J Hum Genet; 2023 Apr; 31(4):485-489. PubMed ID: 35110678
    [TBL] [Abstract][Full Text] [Related]  

  • 69. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.
    Zouheir Habbal M; Bou-Assi T; Zhu J; Owen R; Chehab FF
    PLoS One; 2014; 9(9):e106948. PubMed ID: 25233259
    [TBL] [Abstract][Full Text] [Related]  

  • 70. The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool.
    Milan AM; Hughes AT; Davison AS; Devine J; Usher J; Curtis S; Khedr M; Gallagher JA; Ranganath LR
    Ann Clin Biochem; 2017 May; 54(3):323-330. PubMed ID: 28081634
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Interferences of homogentisic acid (HGA) on routine clinical chemistry assays in serum and urine and the implications for biochemical monitoring of patients with alkaptonuria.
    Curtis SL; Roberts NB; Ranganath LR
    Clin Biochem; 2014 May; 47(7-8):640-7. PubMed ID: 24373924
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.
    Sakthivel S; Zatkova A; Nemethova M; Surovy M; Kadasi L; Saravanan MP
    Ann Hum Genet; 2014 May; 78(3):155-64. PubMed ID: 24575791
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Amyloidosis in alkaptonuria.
    Millucci L; Braconi D; Bernardini G; Lupetti P; Rovensky J; Ranganath L; Santucci A
    J Inherit Metab Dis; 2015 Sep; 38(5):797-805. PubMed ID: 25868666
    [TBL] [Abstract][Full Text] [Related]  

  • 74. HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase.
    Karmakar M; Cicaloni V; Rodrigues CHM; Spiga O; Santucci A; Ascher DB
    Curr Res Struct Biol; 2022; 4():271-277. PubMed ID: 36118553
    [TBL] [Abstract][Full Text] [Related]  

  • 75. An update on molecular genetics of Alkaptonuria (AKU).
    Zatkova A
    J Inherit Metab Dis; 2011 Dec; 34(6):1127-36. PubMed ID: 21720873
    [TBL] [Abstract][Full Text] [Related]  

  • 76. First report of HGD mutations in a Chinese with alkaptonuria.
    Yang YJ; Guo JH; Chen WJ; Zhao R; Tang JS; Meng XH; Zhao L; Tu M; He XY; Wu LQ; Zhu YM
    Gene; 2013 Apr; 518(2):467-9. PubMed ID: 23353776
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Recent advances in management of alkaptonuria (invited review; best practice article).
    Ranganath LR; Jarvis JC; Gallagher JA
    J Clin Pathol; 2013 May; 66(5):367-73. PubMed ID: 23486607
    [TBL] [Abstract][Full Text] [Related]  

  • 78. [First report of alkaptonuria in Peru].
    Guillén-Mendoza D; Quiroga de Michelena M
    Rev Peru Med Exp Salud Publica; 2014; 31(4):793-5. PubMed ID: 25597736
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Alkaptonuria.
    Mistry JB; Bukhari M; Taylor AM
    Rare Dis; 2013; 1():e27475. PubMed ID: 25003018
    [TBL] [Abstract][Full Text] [Related]  

  • 80.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.