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 *

150 related articles for article (PubMed ID: 36058494)

  • 21. Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.
    Tekin B; Yucelten D; Beleggia F; Sarig O; Sprecher E
    Int J Dermatol; 2016 Aug; 55(8):898-902. PubMed ID: 27062382
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
    Abdel-Hamid MS; Abouzaid MR; Mostafa MI; Ahmed NE
    Arch Oral Biol; 2024 Feb; 158():105869. PubMed ID: 38104461
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
    Kurban M; Wajid M; Shimomura Y; Bahhady R; Kibbi AG; Christiano AM
    Dermatology; 2009; 219(4):289-94. PubMed ID: 19816003
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.
    Kurban M; Cheng T; Wajid M; Kiuru M; Shimomura Y; Christiano AM
    J Eur Acad Dermatol Venereol; 2010 Aug; 24(8):967-9. PubMed ID: 20236208
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Two patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition.
    Umlauft J; Schnabl D; Blunder S; Moosbrugger-Martinz V; Kapferer-Seebacher I; Zschocke J; Schmuth M; Gruber R
    J Dermatol; 2021 Apr; 48(4):537-541. PubMed ID: 33580910
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.
    Wani AA; Devkar N; Patole MS; Shouche YS
    J Periodontol; 2006 Feb; 77(2):233-7. PubMed ID: 16460249
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
    Jouary T; Goizet C; Coupry I; Redonnet-Vernhet I; Levade T; Burgelin I; Toutain A; Delaporte E; Douillard C; Lacombe D; Taieb A; Arveiler B
    J Invest Dermatol; 2008 Feb; 128(2):322-5. PubMed ID: 17943190
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome].
    Yang Y; Bai XW; Liu HS; Cao CF; Ge LH
    Zhonghua Kou Qiang Yi Xue Za Zhi; 2006 Oct; 41(10):602-5. PubMed ID: 17129448
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
    Wei H; Wee LWY; Born B; Seang S; Koh MJA; Yee R; Lin G; Rafi'ee K; Mey S; Tan EC
    Am J Med Genet A; 2020 Feb; 182(2):296-302. PubMed ID: 31846207
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
    Toomes C; James J; Wood AJ; Wu CL; McCormick D; Lench N; Hewitt C; Moynihan L; Roberts E; Woods CG; Markham A; Wong M; Widmer R; Ghaffar KA; Pemberton M; Hussein IR; Temtamy SA; Davies R; Read AP; Sloan P; Dixon MJ; Thakker NS
    Nat Genet; 1999 Dec; 23(4):421-4. PubMed ID: 10581027
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.
    Wu W; Chen B; Chen X; Chen L; Yi L; Wang Y; Yan F; Sun W
    J Periodontal Res; 2016 Jun; 51(3):376-80. PubMed ID: 26385525
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
    Erzurumluoglu AM; Alsaadi MM; Rodriguez S; Alotaibi TS; Guthrie PA; Lewis S; Ginwalla A; Gaunt TR; Alharbi KK; Alsaif FM; Alsaadi BM; Day IN
    PLoS One; 2015; 10(3):e0121351. PubMed ID: 25799584
    [TBL] [Abstract][Full Text] [Related]  

  • 33. CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
    Nagy N; Vályi P; Csoma Z; Sulák A; Tripolszki K; Farkas K; Paschali E; Papp F; Tóth L; Fábos B; Kemény L; Nagy K; Széll M
    Mol Genet Genomic Med; 2014 May; 2(3):217-28. PubMed ID: 24936511
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
    Lefèvre C; Blanchet-Bardon C; Jobard F; Bouadjar B; Stalder JF; Cure S; Hoffmann A; Prud'Homme JF; Fischer J
    J Invest Dermatol; 2001 Dec; 117(6):1657-61. PubMed ID: 11886537
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
    de Haar SF; Jansen DC; Schoenmaker T; De Vree H; Everts V; Beertsen W
    Hum Mutat; 2004 May; 23(5):524. PubMed ID: 15108292
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.
    Nitta H; Wara-Aswapati N; Lertsirivorakul J; Nakamura T; Yamamoto M; Izumi Y; Nakamura T; Ishikawa I
    J Periodontol; 2005 Mar; 76(3):492-6. PubMed ID: 15857086
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
    Hart PS; Zhang Y; Firatli E; Uygur C; Lotfazar M; Michalec MD; Marks JJ; Lu X; Coates BJ; Seow WK; Marshall R; Williams D; Reed JB; Wright JT; Hart TC
    J Med Genet; 2000 Dec; 37(12):927-32. PubMed ID: 11106356
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Papillon-Lefèvre syndrome: A series of three cases in the same family and a literature review.
    Upadhyaya JD; Pfundheller D; Islam MN; Bhattacharyya I
    Quintessence Int; 2017; 48(9):695-700. PubMed ID: 28920109
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].
    Liu C; Tian Z; Yang Q; Ma Q; Xu X; Xiong F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):150-4. PubMed ID: 27060303
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Eponym: Papillon-Lefevre syndrome.
    Dalgıc B; Bukulmez A; Sarı S
    Eur J Pediatr; 2011 Jun; 170(6):689-91. PubMed ID: 21165749
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.