224 related articles for article (PubMed ID: 12207605)
1. New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.
Van Steensel MA; Van Geel M; Steijlen PM
Br J Dermatol; 2002 Sep; 147(3):575-81. PubMed ID: 12207605
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
Hart TC; Hart PS; Michalec MD; Zhang Y; Firatli E; Van Dyke TE; Stabholz A; Zlotogorski A; Shapira L; Soskolne WA
J Med Genet; 2000 Feb; 37(2):88-94. PubMed ID: 10662807
[TBL] [Abstract][Full Text] [Related]
4. A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
Cury VF; Gomez RS; Costa JE; Friedman E; Boson W; De Marco L
Br J Dermatol; 2005 Feb; 152(2):353-6. PubMed ID: 15727652
[TBL] [Abstract][Full Text] [Related]
5. Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings.
Janjua SA; Iftikhar N; Hussain I; Khachemoune A
J Am Acad Dermatol; 2008 Feb; 58(2):339-44. PubMed ID: 18222334
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.
Ragunatha S; Ramesh M; Anupama P; Kapoor M; Bhat M
Pediatr Dermatol; 2015; 32(2):292-4. PubMed ID: 24894642
[TBL] [Abstract][Full Text] [Related]
9. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hewitt C; McCormick D; Linden G; Turk D; Stern I; Wallace I; Southern L; Zhang L; Howard R; Bullon P; Wong M; Widmer R; Gaffar KA; Awawdeh L; Briggs J; Yaghmai R; Jabs EW; Hoeger P; Bleck O; Rüdiger SG; Petersilka G; Battino M; Brett P; Hattab F; Al-Hamed M; Sloan P; Toomes C; Dixon M; James J; Read AP; Thakker N
Hum Mutat; 2004 Mar; 23(3):222-8. PubMed ID: 14974080
[TBL] [Abstract][Full Text] [Related]
10. Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.
Rai R; Thiagarajan S; Mohandas S; Natarajan K; Shanmuga Sekar C; Ramalingam S
Int J Dermatol; 2010 May; 49(5):541-3. PubMed ID: 20534088
[TBL] [Abstract][Full Text] [Related]
11. Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.
Kosem R; Debeljak M; Repič Lampret B; Kansky A; Battelino T; Trebušak Podkrajšek K
Dermatology; 2012; 225(3):193-203. PubMed ID: 23108224
[TBL] [Abstract][Full Text] [Related]
12. Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.
Moghaddasian M; Arab H; Dadkhah E; Boostani H; Babak AR; Abbaszadegan MR
Gene; 2014 Mar; 538(1):182-7. PubMed ID: 24374475
[TBL] [Abstract][Full Text] [Related]
13. Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.
Meenu S; Pradeep B; Ramalingam S; Sairam T; Rai R; Sankaran R
Mol Biol Rep; 2020 Jul; 47(7):5681-5687. PubMed ID: 32601924
[TBL] [Abstract][Full Text] [Related]
14. Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis.
Hart TC; Stabholz A; Meyle J; Shapira L; Van Dyke TE; Cutler CW; Soskolne WA
J Periodontal Res; 1997 Jan; 32(1 Pt 2):81-9. PubMed ID: 9085215
[TBL] [Abstract][Full Text] [Related]
15. Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.
Pap ÉM; Farkas K; Tóth L; Fábos B; Széll M; Németh G; Nagy N
Clin Exp Dermatol; 2020 Jul; 45(5):555-559. PubMed ID: 31925812
[TBL] [Abstract][Full Text] [Related]
16. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.
Hart TC; Hart PS; Bowden DW; Michalec MD; Callison SA; Walker SJ; Zhang Y; Firatli E
J Med Genet; 1999 Dec; 36(12):881-7. PubMed ID: 10593994
[TBL] [Abstract][Full Text] [Related]
17. Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
Zhang Y; Hart PS; Moretti AJ; Bouwsma OJ; Fisher EM; Dudlicek L; Pettenati MJ; Hart TC
Hum Mutat; 2002 Jul; 20(1):75. PubMed ID: 12112662
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Haim-Munk syndrome.
Pahwa P; Lamba AK; Faraz F; Tandon S
J Indian Soc Periodontol; 2010 Jul; 14(3):201-3. PubMed ID: 21760678
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]