| 1 | 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 |
| 2 | 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 |
| 3 | A homoallelic FECH mutation in a patient with both er ythropoietic protoporphyria and palmar keratoderma. (20337824) | Minder E.I.... Schoenfeld N. | 2010 | FECH |
| 4 | Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. (20082890) | Bergman R.... Sprecher E. | 2010 | DSG1 |
| 5 | Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. (20081885) | Bowden P.E. | 2010 | KRT6C |
| 6 | Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (19106041) | Codispoti A.... Terrinoni A. | 2009 | KRT9 |
| 7 | Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (17362238) | Li M.... Dai X.Y. | 2009 | KRT9 |
| 8 | Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. (18957847) | Simpson M.A.... Crosby A.H. | 2009 | JUP, DSP, DSC2 |
| 9 | 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 |
| 10 | Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. (18477167) | Zhao J.J.... Zheng Z.Z. | 2008 | KRT9 |
| 11 | Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma (17369150) | Yin X.Z.... Hu Z.M. | 2007 | KRT9 |
| 12 | 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 |
| 13 | Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. (16484817) | Milingou M.... Borradori L. | 2006 | DSG1 |
| 14 | A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. (16417221) | Richardson E.S.... Richard G. | 2006 | KRT5, KRT1 |
| 15 | Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. (16628197) | Norgett E.E.... Kelsell D.P. | 2006 | DSP |
| 16 | Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. (17106596) | Bondeson M.L.... Vahlquist A. | 2006 | GJB2 |
| 17 | A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. (15605275) | Kon A.... Takagaki K. | 2005 | KRT9 |
| 18 | Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. (15897387) | Keren H.... Sprecher E. | 2005 | DSP, DSG1 |
| 19 | A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. (15968592) | Sprecher E.... Mandel H. | 2005 | SNAP29 |
| 20 | Expression of keratins 14, 10 and 16 in marginal keratoderma of the palms. (16356392) | Peryassu M.A.... Filgueira A.L. | 2005 | KRT14, KRT16, KRT10 |
| 21 | Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. (15214894) | Terron-Kwiatkowski A.... McLean W.H. | 2004 | KRT1, KRT9 |
| 22 | A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. (15099359) | He X.-H.... Le Y.-P. | 2004 | KRT9 |
| 23 | Present status of the molecular genetics in epidermolytic palmoplantar keratoderma (15300637) | Zhang X.N.... Lai Z. | 2004 | KRT9 |
| 24 | Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. (14684683) | Martinez-Mir A.... Christiano A.M. | 2003 | LOC619540 |
| 25 | De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma. (14517588) | Yang M.H.... Chao S.C. | 2003 | KRT9 |
| 26 | Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. (12615358) | Ishida-Yamamoto A. | 2003 | LOR |
| 27 | Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. (14675368) | Lee J.-H.... Yang J.-M. | 2003 | KRT9 |
| 28 | 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 |
| 29 | The molecular basis of hereditary palmoplantar keratodermas. (12196741) | Kimyai-Asadi A.... Jih M.H. | 2002 | LOR |
| 30 | Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. (12406346) | Terron-Kwiatkowski A.... Irvine A.D. | 2002 | KRT1 |
| 31 | Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298) | Matsumoto K.... Iizuka H. | 2001 | LOR |
| 32 | 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 |
| 33 | Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. (11063735) | Norgett E.E.... Kelsell D.P. | 2000 | DSP |
| 34 | Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma. (11121146) | Ishida-Yamamoto A.... Iizuka H. | 2000 | LOR |
| 35 | Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. (10594734) | Whittock N.V.... McGrath J.A. | 1999 | DSP |
| 36 | R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features. (10536990) | Mayuzumi N.... Ogawa H. | 1999 | KRT9 |
| 37 | Spiny keratoderma--a demonstration of hair keratin and hair type keratinization. (10189241) | Hashimoto K.... Sun T.T. | 1999 | TCHH |
| 38 | A novel insertional mutation in loricrin in Vohwinkel's Keratoderma. (9764857) | Armstrong D.K.... Hughes A.E. | 1998 | LOR |
| 39 | Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. (9665400) | Akiyama M.... Shimizu H. | 1998 | LOR, TCHH, LELP1 |
| 40 | Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. (9833037) | Yang J.M.... Lee E.S. | 1998 | KRT9 |
| 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 | Spiny keratoderma: a common under-reported dermatosis. (9675341) | Horton S.L.... Aronson P. | 1998 | HMGCR |
| 43 | A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. (9204965) | Endo H.... Shinkai H. | 1997 | KRT9 |
| 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 | A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (7528239) | Kimonis V.... Compton J.G. | 1994 | KRT1, KRT9 |
| 47 | Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. (7511021) | Torchard D.... Feunteun J. | 1994 | KRT9 |
| 48 | 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 |
| 49 | Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). (7512862) | Reis A.... Kuester W. | 1994 | KRT14, KRT9 |
| 50 | Palmoplantar keratoderma, deafness and atopy. (2956987) | Verbov J. | 1987 | GJB2 |
