| 1 | Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. (23064416) | Pohler E.... McLean W.H. | 2012 | AAGAB |
| 2 | The most common mutation of KRT9, c.C487T (p.R163W), i n epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. (22262370) | Liu W.T.... Zhang X.N. | 2012 | KRT9 |
| 3 | Duplication mutation of keratin 9 gene in a large Chi nese family with epidermolytic palmoplantar keratoderma. (21489919) | Zeng Y.P.... Zuo Y.G. | 2011 | KRT9 |
| 4 | A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined wi th knuckle pads and camptodactyly. (21715251) | Du Z.F.... Zhang X.N. | 2011 | KRT9 |
| 5 | A homoallelic FECH mutation in a patient with both er ythropoietic protoporphyria and palmar keratoderma. (20337824) | Minder E.I.... Schoenfeld N. | 2010 | FECH |
| 6 | Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. (19874353) | Shimomura Y.... Christiano A.M. | 2010 | KRT9 |
| 7 | Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. (20082890) | Bergman R.... Sprecher E. | 2010 | DSG1 |
| 8 | A novel mutation of the keratin 9 gene in a Chinese f amily with epidermolytic palmoplantar keratoderma. (20964665) | Wang K.... Chen H.D. | 2010 | KRT9 |
| 9 | Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (19106041) | Codispoti A.... Terrinoni A. | 2009 | KRT9 |
| 10 | Mutation L437P in the 2B domain of keratin 1 causes d iffuse palmoplantar keratoderma in a Chinese pedigree. (19470048) | Liu X.P.... Xia K. | 2009 | KRT1, KRT9 |
| 11 | Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma. (19223272) | Xu C.M.... Zhang X.N. | 2009 | KRT9 |
| 12 | Epidermolytic palmoplantar keratoderma with constrict ion bands on bilateral fifth toes. (19451521) | Funakushi N.... Ikeda S. | 2009 | KRT9 |
| 13 | Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. (19157795) | Dua-Awereh M.B.... Christiano A.M. | 2009 | DSG1, KRT1 |
| 14 | A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. (18787097) | de Zwart-Storm E.A.... van Steensel M.A. | 2008 | GJB2 |
| 15 | Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. (18477167) | Zhao J.J.... Zheng Z.Z. | 2008 | KRT9 |
| 16 | 'Nagashima-type' keratosis as a novel entity in the palmoplantar keratoderma category. (18347294) | Kabashima K.... Tokura Y. | 2008 | SLURP1 |
| 17 | Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. (17194569) | Barber A.G.... Christiano A.M. | 2007 | DSG1 |
| 18 | Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. (16403113) | Gedicke M.M.... Hennies H.C. | 2006 | LOR |
| 19 | Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. (16484817) | Milingou M.... Borradori L. | 2006 | DSG1 |
| 20 | A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. (16961539) | Shimazu K.... Tamaki K. | 2006 | KRT9 |
| 21 | L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. (16911293) | Kon A.... Takagaki K. | 2006 | KRT9 |
| 22 | A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. (15605275) | Kon A.... Takagaki K. | 2005 | KRT9 |
| 23 | Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. (15897387) | Keren H.... Sprecher E. | 2005 | DSP, DSG1 |
| 24 | Palmoplantar keratodermas. (15708285) | Itin P.H.... Fistarol S.K. | 2005 | CTSC, DSP, LOR |
| 25 | A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. (15099359) | He X.-H.... Le Y.-P. | 2004 | KRT9 |
| 26 | Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma. (15583984) | Zhang B.R.... Xia J.H. | 2004 | KRT9 |
| 27 | De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma. (14517588) | Yang M.H.... Chao S.C. | 2003 | KRT9 |
| 28 | A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (12838553) | Lu Y.... Gong Y. | 2003 | KRT9 |
| 29 | Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. (12192490) | Kuster W.... Hennies H.C. | 2002 | KRT9 |
| 30 | The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. (12372058) | Uyguner O.... Wollnik B. | 2002 | GJB2 |
| 31 | New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. (12207605) | van Steensel M.A.... Steijlen P.M. | 2002 | CTSC |
| 32 | A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma. (12532041) | Tsunemi Y.... Tamaki K. | 2002 | KRT9 |
| 33 | Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. (11313759) | Hunt D.M.... Buxton R.S. | 2001 | DSG1 |
| 34 | Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626) | Mckoy G.... McKenna W.J. | 2000 | JUP |
| 35 | A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. (10369869) | Maestrini E.... Munro C.S. | 1999 | GJB2 |
| 36 | Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. (10594734) | Whittock N.V.... McGrath J.A. | 1999 | DSP |
| 37 | A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma. (10570560) | Morgan V.A.... Varigos G.A. | 1999 | KRT9 |
| 38 | Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. (10233272) | Coleman C.M.... McLean W.H. | 1999 | KRT9 |
| 39 | A novel insertional mutation in loricrin in Vohwinkel's Keratoderma. (9764857) | Armstrong D.K.... Hughes A.E. | 1998 | LOR |
| 40 | Translocation of profilaggrin N-terminal domain into keratinocyte nuclei with fragmented DNA in normal human skin and loricrin keratoderma. (9800950) | Ishida-Yamamoto A.... Iizuka H. | 1998 | LOR |
| 41 | Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. (9856479) | Richard G.... Bale S.J. | 1998 | GJB2 |
| 42 | Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (9856842) | Covello S.P.... McLean W.H.I. | 1998 | KRT9 |
| 43 | Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. (9326398) | Korge B.P.... Munro C.S. | 1997 | LOR |
| 44 | Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. (8647270) | Kobayashi S.... Imamura S. | 1996 | KRT9 |
| 45 | Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. (7544664) | Kelsell D.P.... Spurr N.K. | 1995 | KRT9 |
| 46 | Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. (7532198) | Navsaria H.A.... Leigh I.M. | 1995 | KRT1, KRT9 |
| 47 | Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. (7532199) | Rothnagel J.A.... Roop D.R. | 1995 | KRT9 |
| 48 | Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. (7511021) | Torchard D.... Feunteun J. | 1994 | KRT9 |
| 49 | The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. (7531539) | Lind L.... Holmgren G. | 1994 | RARG |
| 50 | Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. (1385292) | Reis A.... Sperling K. | 1992 | KRT9 |
