-
1
-
-
0002704375
-
Dens cas de keratodermie palmaire et plantaire symetrique familale (maladie de meleda) chez le frere et al soeur: coexdistence dans les deux cas d'alterations dentaires groups
-
Papillon M, Lefèvre P (1924) Dens cas de keratodermie palmaire et plantaire symetrique familale (maladie de meleda) chez le frere et al soeur: coexdistence dans les deux cas d'alterations dentaires groups. Soc Fr Dermatol Syphiligr 31: 82-87.
-
(1924)
Soc Fr Dermatol Syphiligr
, vol.31
, pp. 82-87
-
-
Papillon, M.1
Lefèvre, P.2
-
2
-
-
58149435197
-
The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lefèvre syndrome
-
Gorlin RJ, Sedano H, Anderson VE (1964) The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lefèvre syndrome. J Pediatr 65: 895-908.
-
(1964)
J Pediatr
, vol.65
, pp. 895-908
-
-
Gorlin, R.J.1
Sedano, H.2
Anderson, V.E.3
-
3
-
-
0018330757
-
The Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy-report of a case and review of the cases in the literature
-
Haneke E (1979) The Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy-report of a case and review of the cases in the literature. Hum Genet 51: 1-35.
-
(1979)
Hum Genet
, vol.51
, pp. 1-35
-
-
Haneke, E.1
-
4
-
-
19244373774
-
Pyogenic liver abscess and Papillon-Lefevre syndrome: not a rare association
-
Almuneef M, Al Khenaizan S, Al Ajaji S, Al Anazi A (2003) Pyogenic liver abscess and Papillon-Lefevre syndrome: not a rare association. Pediatr 111: e85-e88.
-
(2003)
Pediatr
, vol.111
-
-
Almuneef, M.1
Al Khenaizan, S.2
Al Ajaji, S.3
Al Anazi, A.4
-
5
-
-
0016787247
-
Increased susceptibility to infections in the Papillon-Lefevre syndrome
-
Haneke E, Hornstein OP, Lex C (1975) Increased susceptibility to infections in the Papillon-Lefevre syndrome. Dermatologica 150: 283-286.
-
(1975)
Dermatologica
, vol.150
, pp. 283-286
-
-
Haneke, E.1
Hornstein, O.P.2
Lex, C.3
-
6
-
-
0034181668
-
Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefevre syndrome: 15-year follow-up
-
De Vree H, Steenackers K, De Boever JA (2000) Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefevre syndrome: 15-year follow-up. J Clin Periodontol 27: 354-360.
-
(2000)
J Clin Periodontol
, vol.27
, pp. 354-360
-
-
de Vree, H.1
Steenackers, K.2
de Boever, J.A.3
-
7
-
-
0034982693
-
Combined mechanical and antibiotic periodontal therapy in a case of Papillon-Lefevre syndrome
-
Eickholz P, Kugel B, Pohl S, Näher H, Staehle HJ (2001) Combined mechanical and antibiotic periodontal therapy in a case of Papillon-Lefevre syndrome. J Periodontol 72: 542-549.
-
(2001)
J Periodontol
, vol.72
, pp. 542-549
-
-
Eickholz, P.1
Kugel, B.2
Pohl, S.3
Näher, H.4
Staehle, H.J.5
-
8
-
-
0033256861
-
Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefevre syndrome. A report of 4 cases
-
Rüdiger S, Petersilka G, Flemmig TF (1999) Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefevre syndrome. A report of 4 cases. J Clin Periodontol 26: 847-854.
-
(1999)
J Clin Periodontol
, vol.26
, pp. 847-854
-
-
Rüdiger, S.1
Petersilka, G.2
Flemmig, T.F.3
-
9
-
-
33749434474
-
Periodontal therapy in siblings with Papillon-Lefevre syndrome and tinea capitis: a report of two cases
-
Schacher B, Baron F, Ludwig B, Valesky E, Noack B, Eickholz P (2006) Periodontal therapy in siblings with Papillon-Lefevre syndrome and tinea capitis: a report of two cases. J Clin Periodontol 33: 829-836.
-
(2006)
J Clin Periodontol
, vol.33
, pp. 829-836
-
-
Schacher, B.1
Baron, F.2
Ludwig, B.3
Valesky, E.4
Noack, B.5
Eickholz, P.6
-
10
-
-
34748834035
-
Combined therapy in a patient with Papillon-Lefèvre syndrome: a 13-year follow-up
-
Toygar HU, Kircelli C, Firat E, Guzeldemir E (2007) Combined therapy in a patient with Papillon-Lefèvre syndrome: a 13-year follow-up. J Periodontol 78: 1819-1824.
-
(2007)
J Periodontol
, vol.78
, pp. 1819-1824
-
-
Toygar, H.U.1
Kircelli, C.2
Firat, E.3
Guzeldemir, E.4
-
11
-
-
26944468348
-
Preventive periodontal regimen in Papillon-Lefevre syndrome
-
Ullbro C, Brown A, Twetman S (2005) Preventive periodontal regimen in Papillon-Lefevre syndrome. Pediatr Dent 27: 226-232.
-
(2005)
Pediatr Dent
, vol.27
, pp. 226-232
-
-
Ullbro, C.1
Brown, A.2
Twetman, S.3
-
12
-
-
0033455594
-
Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome
-
Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, Zhang Y, Firatli E (1999) Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. J Med Genet 36: 881-887.
-
(1999)
J Med Genet
, vol.36
, pp. 881-887
-
-
Hart, P.S.1
Bowden, D.W.2
Michalec, M.D.3
Callison, S.A.4
Walker, S.J.5
Zhang, Y.6
Firatli, E.7
-
13
-
-
0032709548
-
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 (1999) Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 23: 421-424.
-
(1999)
Nat Genet
, vol.23
, pp. 421-424
-
-
Toomes, C.1
James, J.2
Wood, A.J.3
Wu, C.L.4
McCormick, D.5
Lench, N.6
Hewitt, C.7
Moynihan, L.8
Roberts, E.9
Woods, C.G.10
Markham, A.11
Wong, M.12
Widmer, R.13
Ghaffar, K.A.14
Pemberton, M.15
Hussein, I.R.16
Temtamy, S.A.17
Davies, R.18
Read, A.P.19
Sloan, P.20
Dixon, M.J.21
Thakker, N.S.22
more..
-
14
-
-
40849111783
-
Functional cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes
-
Noack B, Görgens H, Schacher B, Puklo M, Eickholz P, Hoffmann T, Schackert HK (2008) Functional cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes. J Clin Periodontol 35: 311-316.
-
(2008)
J Clin Periodontol
, vol.35
, pp. 311-316
-
-
Noack, B.1
Görgens, H.2
Schacher, B.3
Puklo, M.4
Eickholz, P.5
Hoffmann, T.6
Schackert, H.K.7
-
15
-
-
0036168150
-
Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis
-
Adkison AM, Raptis SZ, Kelley DG, Pham CTN (2002) Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis. J Clin Invest 109: 363-371.
-
(2002)
J Clin Invest
, vol.109
, pp. 363-371
-
-
Adkison, A.M.1
Raptis, S.Z.2
Kelley, D.G.3
Pham, C.T.N.4
-
16
-
-
4444343709
-
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs
-
de Haar SF, Jansen DC, Schoenmaker T, De Vree H, Everts V, Beertsen W (2004) Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. Hum Mutat 23: 524.
-
(2004)
Hum Mutat
, vol.23
, pp. 524
-
-
de Haar, S.F.1
Jansen, D.C.2
Schoenmaker, T.3
de Vree, H.4
Everts, V.5
Beertsen, W.6
-
17
-
-
10344234724
-
Papillon-Lefevre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans
-
Pham CT, Ivanovich JL, Raptis SZ, Zehnbauer B, Ley TJ (2004) Papillon-Lefevre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. J Immunol 173: 7277-7281.
-
(2004)
J Immunol
, vol.173
, pp. 7277-7281
-
-
Pham, C.T.1
Ivanovich, J.L.2
Raptis, S.Z.3
Zehnbauer, B.4
Ley, T.J.5
-
18
-
-
0033587689
-
Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo
-
Pham CT, Ley TJ (1999) Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo. Proc Natl Acad Sci U S A 96: 8627-8632.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 8627-8632
-
-
Pham, C.T.1
Ley, T.J.2
-
19
-
-
33748042966
-
Role of polymorphonuclear leukocyte-derived serine proteinases in defense against Actinobacillus actinomycetemcomitans
-
de Haar SF, Hiemstra PS, van Steenbergen MT, Everts V, Beertsen W (2006) Role of polymorphonuclear leukocyte-derived serine proteinases in defense against Actinobacillus actinomycetemcomitans. Infect Immun 74: 5284-5291.
-
(2006)
Infect Immun
, vol.74
, pp. 5284-5291
-
-
de Haar, S.F.1
Hiemstra, P.S.2
van Steenbergen, M.T.3
Everts, V.4
Beertsen, W.5
-
20
-
-
0032755732
-
Paths of glorious proteases
-
Nuckolls GH, Slavkin HC (1999) Paths of glorious proteases. Nat Genet 23: 378-380.
-
(1999)
Nat Genet
, vol.23
, pp. 378-380
-
-
Nuckolls, G.H.1
Slavkin, H.C.2
-
22
-
-
33646394866
-
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
-
Meade JL, de Wynter EA, Brett P, Sharif SM, Woods CG, Markham AF, Cook GP (2006) A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. Blood 107: 3665-3668.
-
(2006)
Blood
, vol.107
, pp. 3665-3668
-
-
Meade, J.L.1
de Wynter, E.A.2
Brett, P.3
Sharif, S.M.4
Woods, C.G.5
Markham, A.F.6
Cook, G.P.7
-
23
-
-
72249087183
-
Cytokine responses against periodontal infection: protective and destructive roles
-
Liu YC, Lerner UH, Teng YT (2010) Cytokine responses against periodontal infection: protective and destructive roles. Periodontol 2000 52: 163-206.
-
(2010)
Periodontol
, vol.52
, pp. 163-206
-
-
Liu, Y.C.1
Lerner, U.H.2
Teng, Y.T.3
-
24
-
-
0029031790
-
Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo
-
Angiolillo AL, Cecilia Sgadari C, Taub DD, Liao F, Joshua M, Farber JF, Maheshwari S, Kleinman HK, Keaman GH, Tosato G (1995) Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo. J Exp Med 182: 155-162.
-
(1995)
J Exp Med
, vol.182
, pp. 155-162
-
-
Angiolillo, A.L.1
Cecilia Sgadari, C.2
Taub, D.D.3
Liao, F.4
Joshua, M.5
Farber, J.F.6
Maheshwari, S.7
Kleinman, H.K.8
Keaman, G.H.9
Tosato, G.10
-
25
-
-
78650083063
-
Destructive and protective roles of cytokines in periodontitis: a re-appraisal from host defense and tissue destruction viewpoints
-
Garlet GP (2010) Destructive and protective roles of cytokines in periodontitis: a re-appraisal from host defense and tissue destruction viewpoints. J Dent Res 89: 1349-1363.
-
(2010)
J Dent Res
, vol.89
, pp. 1349-1363
-
-
Garlet, G.P.1
-
26
-
-
12144286503
-
The role of cathepsin C in Papillon-Lefevre 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 (2004) The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat 23: 222-228.
-
(2004)
Hum Mutat
, vol.23
, pp. 222-228
-
-
Hewitt, C.1
McCormick, D.2
Linden, G.3
Turk, D.4
Stern, I.5
Wallace, I.6
Southern, L.7
Zhang, L.8
Howard, R.9
Bullon, P.10
Wong, M.11
Widmer, R.12
Gaffar, K.A.13
Awawdeh, L.14
Briggs, J.15
Yaghmai, R.16
Jabs, E.W.17
Hoeger, P.18
Bleck, O.19
Rüdiger, S.G.20
Petersilka, G.21
Battino, M.22
Brett, P.23
Hattab, F.24
Al Hamed, M.25
Sloan, P.26
Toomes, C.27
Dixon, M.28
James, J.29
Read, A.P.30
Thakker, N.31
more..
-
27
-
-
2442701902
-
Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefevre syndrome
-
Noack B, Görgens H, Hoffmann T, Fanghänel J, Kocher T, Eickholz P, Schackert HK (2004) Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefevre syndrome. J Dent Res 83: 368-370.
-
(2004)
J Dent Res
, vol.83
, pp. 368-370
-
-
Noack, B.1
Görgens, H.2
Hoffmann, T.3
Fanghänel, J.4
Kocher, T.5
Eickholz, P.6
Schackert, H.K.7
-
28
-
-
0029979369
-
Biologic basis for interleukin-1 in disease
-
Dinorello CA (1996) Biologic basis for interleukin-1 in disease. Blood 87: 2095-2147.
-
(1996)
Blood
, vol.87
, pp. 2095-2147
-
-
Dinorello, C.A.1
-
29
-
-
85047692516
-
Signalling pathways of the TNF superfamily: a double-edged sword
-
Aggarwal BB (2003) Signalling pathways of the TNF superfamily: a double-edged sword. Nat Rev Immunol 3: 745-756.
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 745-756
-
-
Aggarwal, B.B.1
-
30
-
-
12444341944
-
Toll-like receptors in innate immunity
-
Takeda K, Akira S (2005) Toll-like receptors in innate immunity. Int Immunol 17: 1-14.
-
(2005)
Int Immunol
, vol.17
, pp. 1-14
-
-
Takeda, K.1
Akira, S.2
-
32
-
-
19044368336
-
Orthodontic treatment in a patient with Papillon-Lefèvre syndrome
-
Lux CJ, Kugel B, Komposch G, Pohl S, Eickholz P (2005) Orthodontic treatment in a patient with Papillon-Lefèvre syndrome. J Periodontol 76: 149-157.
-
(2005)
J Periodontol
, vol.76
, pp. 149-157
-
-
Lux, C.J.1
Kugel, B.2
Komposch, G.3
Pohl, S.4
Eickholz, P.5
-
33
-
-
0027682822
-
Late onset Papillon-Lefevre syndrome? A chromosomic, neutrophil function and microbiological study
-
Bullon P, Pascual A, Fernandez-Novoa MC, Borobio MV, Muniain MA, Camacho F (1993) Late onset Papillon-Lefevre syndrome? A chromosomic, neutrophil function and microbiological study. J Clin Periodontol 20: 662-667.
-
(1993)
J Clin Periodontol
, vol.20
, pp. 662-667
-
-
Bullon, P.1
Pascual, A.2
Fernandez-Novoa, M.C.3
Borobio, M.V.4
Muniain, M.A.5
Camacho, F.6
-
34
-
-
0029303522
-
Papillon-Lefèvre syndrome: a review of the literature and a report of 4 cases
-
Hattab FN, Rawashdeh MR, Yassin OM, Al-Momani AS, Al-Ubosi MM (1995) Papillon-Lefèvre syndrome: a review of the literature and a report of 4 cases. J Periodontol 66: 413-420.
-
(1995)
J Periodontol
, vol.66
, pp. 413-420
-
-
Hattab, F.N.1
Rawashdeh, M.R.2
Yassin, O.M.3
Al-Momani, A.S.4
Al-Ubosi, M.M.5
-
35
-
-
0019758249
-
Suggested mode of periodontal therapy for patients with Papillon-Lefèvre syndrome
-
Baer PN, McDonald RE (1981) Suggested mode of periodontal therapy for patients with Papillon-Lefèvre syndrome. Periodontal Case Rep 1: 10.
-
(1981)
Periodontal Case Rep
, vol.1
, pp. 10
-
-
Baer, P.N.1
McDonald, R.E.2
-
36
-
-
0023110539
-
Clinical management of prepubertal periodontitis in 2 siblings with Papillon-Lefèvre syndrome
-
Preus HR, Gjermo P (1987) Clinical management of prepubertal periodontitis in 2 siblings with Papillon-Lefèvre syndrome. J Clin Periodontol 14: 156-160.
-
(1987)
J Clin Periodontol
, vol.14
, pp. 156-160
-
-
Preus, H.R.1
Gjermo, P.2
-
37
-
-
0029349614
-
Dental treatment of Papillon-Lefèvre syndrome: 15 year follow-up
-
Tinanoff N, Tempro P, Maderazo EG (1995) Dental treatment of Papillon-Lefèvre syndrome: 15 year follow-up. J Clin Periodontol 22: 609-612.
-
(1995)
J Clin Periodontol
, vol.22
, pp. 609-612
-
-
Tinanoff, N.1
Tempro, P.2
Maderazo, E.G.3
-
38
-
-
0028326505
-
Clinical, bacteriological, and immunological examination and the treatment process of two Papillon-Lefèvre syndrome patients
-
Ishikawa I, Umeda M, Laosrisin N (1994) Clinical, bacteriological, and immunological examination and the treatment process of two Papillon-Lefèvre syndrome patients. J Periodontol 65: 364-371.
-
(1994)
J Periodontol
, vol.65
, pp. 364-371
-
-
Ishikawa, I.1
Umeda, M.2
Laosrisin, N.3
-
39
-
-
0036546710
-
Treatment of Papillon-Lefèvre syndrome periodontitis
-
Pacheco JJ, Coelho C, Salazar F, Contreras A, Slots J, Velazco CH (2002) Treatment of Papillon-Lefèvre syndrome periodontitis. J Clin Periodontol 29: 370-374.
-
(2002)
J Clin Periodontol
, vol.29
, pp. 370-374
-
-
Pacheco, J.J.1
Coelho, C.2
Salazar, F.3
Contreras, A.4
Slots, J.5
Velazco, C.H.6
-
40
-
-
0027327322
-
A possible late onset variation of Papillon-Lefevre syndrome: report of 3 cases
-
Brown RS, Hays GL, Flaitz CM, O'Neill PA, Abramovitch K, White RR (1993) A possible late onset variation of Papillon-Lefevre syndrome: report of 3 cases. J Periodontol 64: 379-386.
-
(1993)
J Periodontol
, vol.64
, pp. 379-386
-
-
Brown, R.S.1
Hays, G.L.2
Flaitz, C.M.3
O'Neill, P.A.4
Abramovitch, K.5
White, R.R.6
-
41
-
-
0031992843
-
Palmar plantar keratosis and unusual periodontal findings. Observations from a family of 4 members
-
Fardal O, Drangsholt E, Olsen I (1998) Palmar plantar keratosis and unusual periodontal findings. Observations from a family of 4 members. J Clin Periodontol 25: 181-184.
-
(1998)
J Clin Periodontol
, vol.25
, pp. 181-184
-
-
Fardal, O.1
Drangsholt, E.2
Olsen, I.3
-
42
-
-
0035112906
-
Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene
-
Nakano A, Nomura K, Nakano H, Ono Y, LaForgia S, Pulkkinen L, Hashimoto I, Uitto J (2001) Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene. J Invest Dermatol 116: 339-343.
-
(2001)
J Invest Dermatol
, vol.116
, pp. 339-343
-
-
Nakano, A.1
Nomura, K.2
Nakano, H.3
Ono, Y.4
Laforgia, S.5
Pulkkinen, L.6
Hashimoto, I.7
Uitto, J.8
-
43
-
-
0034848523
-
Atypical familial Papillon-Lefevre syndrome
-
Inalöz HS, Harman M, Akdeniz S, Inalöz SS, Isik AG (2001) Atypical familial Papillon-Lefevre syndrome. J Eur Acad Dermatol Venereol 15: 48-50.
-
(2001)
J Eur Acad Dermatol Venereol
, vol.15
, pp. 48-50
-
-
Inalöz, H.S.1
Harman, M.2
Akdeniz, S.3
Inalöz, S.S.4
Isik, A.G.5
-
44
-
-
0030203497
-
Partial expression of the Papillon-Lefevre syndrome in 2 unrelated families
-
Soskolne WA, Stabholz A, Dyke TE, Hart TC, Meyle J (1996) Partial expression of the Papillon-Lefevre syndrome in 2 unrelated families. J Clin Periodontol 23: 764-769.
-
(1996)
J Clin Periodontol
, vol.23
, pp. 764-769
-
-
Soskolne, W.A.1
Stabholz, A.2
Dyke, T.E.3
Hart, T.C.4
Meyle, J.5
-
45
-
-
0035260448
-
Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation
-
Allende LM, Garcia-Perez MA, Moreno A, Corell A, Carasol M, Martinez-Canut P, Arnaiz-Villena A (2001) Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation. Hum Mutat 17: 152-153.
-
(2001)
Hum Mutat
, vol.17
, pp. 152-153
-
-
Allende, L.M.1
Garcia-Perez, M.A.2
Moreno, A.3
Corell, A.4
Carasol, M.5
Martinez-Canut, P.6
Arnaiz-Villena, A.7
-
46
-
-
0036199467
-
A novel mutation of the cathepsin C gene in Papillon-Lefevre syndrome
-
Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG, De ML (2002) A novel mutation of the cathepsin C gene in Papillon-Lefevre syndrome. J Periodontol 73: 307-312.
-
(2002)
J Periodontol
, vol.73
, pp. 307-312
-
-
Cury, V.F.1
Costa, J.E.2
Gomez, R.S.3
Boson, W.L.4
Loures, C.G.5
De, M.L.6
-
47
-
-
14844296956
-
A homozygous cathepsin C mutation associated with Haim-Munk syndrome
-
Cury VF, Gomez RS, Costa JE, Friedman E, Boson W, De Marco L (2005) A homozygous cathepsin C mutation associated with Haim-Munk syndrome. Brit J Dermatol 152: 353-356.
-
(2005)
Brit J Dermatol
, vol.152
, pp. 353-356
-
-
Cury, V.F.1
Gomez, R.S.2
Costa, J.E.3
Friedman, E.4
Boson, W.5
de Marco, L.6
-
48
-
-
0034011450
-
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
-
Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S (2000) Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet 37: 95-101.
-
(2000)
J Med Genet
, vol.37
, pp. 95-101
-
-
Hart, T.C.1
Hart, P.S.2
Michalec, M.D.3
Zhang, Y.4
Marazita, M.L.5
Cooper, M.6
Yassin, O.M.7
Nusier, M.8
Walker, S.9
-
49
-
-
0034528706
-
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre 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 (2000) Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. J Med Genet 37: 927-932.
-
(2000)
J Med Genet
, vol.37
, pp. 927-932
-
-
Hart, P.S.1
Zhang, Y.2
Firatli, E.3
Uygur, C.4
Lotfazar, M.5
Michalec, M.D.6
Marks, J.J.7
Lu, X.8
Coates, B.J.9
Seow, W.K.10
Marshall, R.11
Williams, D.12
Reed, J.B.13
Wright, J.T.14
Hart, T.C.15
-
50
-
-
0035677951
-
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome
-
Lefevre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'Homme JF, Fischer J (2001) Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome. J Invest Dermatol 117: 1657-1661.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 1657-1661
-
-
Lefevre, C.1
Blanchet-Bardon, C.2
Jobard, F.3
Bouadjar, B.4
Stalder, J.F.5
Cure, S.6
Hoffmann, A.7
Prud'Homme, J.F.8
Fischer, J.9
-
51
-
-
33744779386
-
Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome
-
Ullbro C, El-Samadi S, Boumah C, Boumah C, Al-Yousef N, Wakil S, Twetman S, Alfadley A, Thestrup-Pedersen K, Meyer B (2006) Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome. Acta Derm Venereol 86: 3-7.
-
(2006)
Acta Derm Venereol
, vol.86
, pp. 3-7
-
-
Ullbro, C.1
El-Samadi, S.2
Boumah, C.3
Boumah, C.4
Al-Yousef, N.5
Wakil, S.6
Twetman, S.7
Alfadley, A.8
Thestrup-Pedersen, K.9
Meyer, B.10
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