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 *

142 related articles for article (PubMed ID: 37635937)

  • 1. Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human
    Liang L; Meng H; Wu H; Zhao J
    Front Mol Biosci; 2023; 10():1230798. PubMed ID: 37635937
    [No Abstract]   [Full Text] [Related]  

  • 2. Functional and structural analysis of a novel splice site
    Wang X; Zhang H; Huang H; Wang W; Wen Y; Dai Z; Huang S; Zhou J; Zhou Y
    Front Genet; 2023; 14():1333111. PubMed ID: 38192441
    [No Abstract]   [Full Text] [Related]  

  • 3. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
    Zhang Y; Xiao H; Xiong Q; Wu C; Li P
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681668
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene.
    Ren Y; Wang J; Li S; Lei J; Liu Y; Wang Y; Gao F; Wang J; Yin J; Yang J
    Front Genet; 2023; 14():1291472. PubMed ID: 38075680
    [No Abstract]   [Full Text] [Related]  

  • 5. Whole Exome Sequencing Identified a Novel Heterozygous Mutation in
    Zheng Y; Xu J; Liang S; Lin D; Banerjee S
    Front Genet; 2018; 9():129. PubMed ID: 29731767
    [TBL] [Abstract][Full Text] [Related]  

  • 6. First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
    Belosevic A; Minder AE; Gueuning M; van Breemen F; Thun GA; Mattle-Greminger MP; Meyer S; Baumer A; Minder EI; Schneider-Yin X; Barman-Aksözen J
    Life (Basel); 2023 Sep; 13(9):. PubMed ID: 37763293
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
    Chen B; Solis-Villa C; Erwin AL; Balwani M; Nazarenko I; Phillips JD; Desnick RJ; Yasuda M
    J Inherit Metab Dis; 2019 Jan; 42(1):186-194. PubMed ID: 30740734
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.
    Yang Y; Chen X; Wu H; Peng H; Sun W; He B; Yuan Z
    Mol Med Rep; 2020 Jul; 22(1):516-524. PubMed ID: 32377710
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
    Martinez di Montemuros F; Di Pierro E; Fargion S; Biolcati G; Griso D; Macrì A; Fiorelli G; Cappellini MD
    Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical feature and genetic analysis of
    Ren Y; Li S; Lei JJ; Li R; Dong BX; Yang J
    Front Genet; 2023; 14():1291719. PubMed ID: 38148975
    [No Abstract]   [Full Text] [Related]  

  • 11. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
    Gross U; Puy H; Doss M; Robreau AM; Nordmann Y; Doss MO; Deybach JC
    Mol Cell Probes; 1999 Dec; 13(6):443-7. PubMed ID: 10657149
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
    Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI
    Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Acute intermittent porphyria: prevalence of pathogenic
    Ma L; Tian Y; Qi X; Li P; Li J; Teng Q; Ma Y; Zhang S
    Ann Transl Med; 2022 May; 10(10):560. PubMed ID: 35722412
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.
    Whatley SD; Roberts AG; Llewellyn DH; Bennett CP; Garrett C; Elder GH
    Hum Genet; 2000 Sep; 107(3):243-8. PubMed ID: 11071386
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
    van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Sheykhkarimli D; Gebbia M; Kishore N; Frésard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
    Am J Hum Genet; 2023 Oct; 110(10):1769-1786. PubMed ID: 37729906
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
    Morán-Jiménez MJ; Borrero-Corte MJ; Jara-Rubio F; García-Pastor I; Díaz-Díaz S; Castelbón-Fernandez FJ; Enríquez-de-Salamanca R; Méndez M
    Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32806544
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
    Molina L; Zhu J; Trépo E; Bayard Q; Amaddeo G; ; Blanc JF; Calderaro J; Ma X; Zucman-Rossi J; Letouzé E
    J Hepatol; 2022 Oct; 77(4):1038-1046. PubMed ID: 35636578
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
    Méndez M; Morán-Jiménez MJ; Gomez-Abecia S; García-Bravo M; Garrido-Astray MC; Fontanellas A; Poblete-Gutiérrez P; Frank J; Enriquez de Salamanca R
    Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):55-63. PubMed ID: 19656452
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
    Puy H; Gross U; Deybach JC; Robréau AM; Frank M; Nordmann Y; Doss M
    Hum Genet; 1998 Nov; 103(5):570-5. PubMed ID: 9860299
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
    Hu Y; Li W; Kang N; Ma L; Teng Q; Mo G; Wu J; Wang X; Bi R; Zhang S
    Clin Genet; 2022 Jan; 101(1):116-121. PubMed ID: 34523126
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.