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 *

452 related articles for article (PubMed ID: 20534089)

  • 1. Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
    Messaoud O; Ben Rekaya M; Cherif W; Talmoudi F; Boussen H; Mokhtar I; Boubaker S; Amouri A; Abdelhak S; Zghal M
    Int J Dermatol; 2010 May; 49(5):544-8. PubMed ID: 20534089
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
    Ben Rekaya M; Messaoud O; Talmoudi F; Nouira S; Ouragini H; Amouri A; Boussen H; Boubaker S; Mokni M; Mokthar I; Abdelhak S; Zghal M
    J Hum Genet; 2009 Jul; 54(7):426-9. PubMed ID: 19478817
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.
    Amr K; Messaoud O; El Darouti M; Abdelhak S; El-Kamah G
    Gene; 2014 Jan; 533(1):52-6. PubMed ID: 24135642
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
    Messaoud O; Rekaya MB; Ouragini H; Benfadhel S; Azaiez H; Kefi R; Gouider-Khouja N; Mokhtar I; Amouri A; Boubaker MS; Zghal M; Abdelhak S
    Arch Dermatol Res; 2012 Mar; 304(2):171-6. PubMed ID: 22081045
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
    Messaoud O; Ben Rekaya M; Kefi R; Chebel S; Boughammoura-Bouatay A; Bel Hadj Ali H; Gouider-Khouja N; Zili J; Frih-Ayed M; Mokhtar I; Abdelhak S; Zghal M
    Br J Dermatol; 2010 Apr; 162(4):883-6. PubMed ID: 20199544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
    Soufir N; Ged C; Bourillon A; Austerlitz F; Chemin C; Stary A; Armier J; Pham D; Khadir K; Roume J; Hadj-Rabia S; Bouadjar B; Taieb A; de Verneuil H; Benchiki H; Grandchamp B; Sarasin A
    J Invest Dermatol; 2010 Jun; 130(6):1537-42. PubMed ID: 20054342
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
    Tamhankar PM; Iyer SV; Ravindran S; Gupta N; Kabra M; Nayak C; Kura M; Sanghavi S; Joshi R; Chennuri VS; Khopkar U
    Indian J Dermatol Venereol Leprol; 2015; 81(1):16-22. PubMed ID: 25566891
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
    States JC; McDuffie ER; Myrand SP; McDowell M; Cleaver JE
    Hum Mutat; 1998; 12(2):103-13. PubMed ID: 9671271
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
    Nishigori C; Moriwaki S; Takebe H; Tanaka T; Imamura S
    Arch Dermatol; 1994 Feb; 130(2):191-7. PubMed ID: 7905727
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
    Bensenouci S; Louhibi L; De Verneuil H; Mahmoudi K; Saidi-Mehtar N
    Biomed Res Int; 2016; 2016():2180946. PubMed ID: 27413738
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
    Kindil Z; Senhaji MA; Bakhchane A; Charoute H; Chihab S; Nadifi S; Barakat A
    BMC Res Notes; 2017 Dec; 10(1):704. PubMed ID: 29208038
    [TBL] [Abstract][Full Text] [Related]  

  • 12. DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A.
    Yang Y; Ding B; Wang K; Bu D; Tu P; Zhu X
    Br J Dermatol; 2004 Jun; 150(6):1190-3. PubMed ID: 15214909
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.
    Nishigori C; Zghal M; Yagi T; Imamura S; Komoun MR; Takebe H
    Am J Hum Genet; 1993 Nov; 53(5):1001-6. PubMed ID: 8105686
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
    Rivera-Begeman A; McDaniel LD; Schultz RA; Friedberg EC
    DNA Repair (Amst); 2007 Jan; 6(1):100-14. PubMed ID: 17079196
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
    Moriwaki S; Yamashita Y; Nakamura S; Fujita D; Kohyama J; Takigawa M; Ohmichi M
    J Dermatol; 2012 Jun; 39(6):516-9. PubMed ID: 22168765
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.
    Negishi I; Kato G; Moriwaki S; Ishikawa O
    Eur J Dermatol; 2002; 12(6):536-9. PubMed ID: 12459522
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
    Sun Z; Zhang J; Guo Y; Ni C; Liang J; Cheng R; Li M; Yao Z
    Br J Dermatol; 2015 Apr; 172(4):1096-102. PubMed ID: 25256075
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
    Espi P; Parajuli S; Benfodda M; Lebre AS; Paudel U; Grange A; Grybek V; Grange T; Soufir N; Grange F
    J Eur Acad Dermatol Venereol; 2018 May; 32(5):832-839. PubMed ID: 29178624
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.
    Pawsey SA; Magnus IA; Ramsay CA; Benson PF; Giannelli F
    Q J Med; 1979 Apr; 48(190):179-210. PubMed ID: 504548
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Neurological abnormalities in xeroderma pigmentosum].
    El Fékih N; Fredj M; Aounallah-Skhiri H; Fazaa B; Zghal M; Ridha Kamoun M
    Rev Neurol (Paris); 2009 Nov; 165(11):967-70. PubMed ID: 19268336
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.