PubRank

H P Stevens

Author PubWeight™ 36.20‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997 6.89
2 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000 3.39
3 Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000 1.48
4 N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999 1.35
5 Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997 1.25
6 Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Hum Genet 1997 1.21
7 The palmoplantar keratodermas: much more than palms and soles. Mol Med Today 1999 1.16
8 Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress. Br J Dermatol 1998 1.10
9 Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 1995 1.09
10 Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 2001 1.03
11 Metastatic Crohn's disease: a review. J Eur Acad Dermatol Venereol 2008 1.01
12 Characterization of paraneoplastic pemphigus autoantigens by immunoblot analysis. J Invest Dermatol 1995 0.98
13 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 1997 0.93
14 Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). Hum Mol Genet 1996 0.92
15 Rare complications of an odontogenic abscess: mediastinitis, thoracic empyema and cardiac tamponade. J Oral Maxillofac Surg 1995 0.91
16 Cutaneous larvae migrans and beyond-a rare association. Travel Med Infect Dis 2003 0.90
17 Spinocerebellar neurons and propriospinal neurons in the cervical spinal cord: a fluorescent double-labeling study in the rat and the cat. Exp Brain Res 1989 0.89
18 Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25. Genomics 1999 0.88
19 The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet 1999 0.86
20 Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum Mol Genet 1995 0.85
21 A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. Am J Hum Genet 2000 0.84
22 Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins. Exp Dermatol 1999 0.83
23 Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000 0.82
24 Fibroblastic rheumatism. Clin Exp Dermatol 1994 0.81
25 Replantation of the radial side of the hand in the rhesus monkey: anatomical and functional aspects. A preliminary study to composite tissue allografting. J Hand Surg Br 1992 0.79
26 Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. Br J Dermatol 2009 0.78
27 Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. Br J Dermatol 2002 0.78
28 Propriospinal neurons with ascending collaterals to the dorsal medulla, the thalamus and the tectum: a retrograde fluorescent double-labeling study of the cervical cord of the rat. Exp Brain Res 1990 0.76
29 Allogeneic transplantation of the radial side of the hand in the rhesus monkey: I. Technical aspects. Plast Reconstr Surg 1992 0.76
30 Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. Br J Dermatol 1999 0.75
31 Chronic rash associated with congenital rubella. J R Soc Med 1994 0.75
32 Neutrophilic eccrine hidradenitis with an unusual presentation. Br J Dermatol 1993 0.75
33 Understanding patients as consumers. J Clin Orthod 1984 0.75
34 A pattern of optic axons in the normal goldfish tectum consistent with the caudal migration of optic terminals during development. Exp Brain Res 1983 0.75
35 Symmetry and morbidity assessment of unilateral complete cleft lip nose corrected with or without primary nasal correction. Cleft Palate Craniofac J 1999 0.75
36 A protective thermoplast splint for the forearm and hand in nonhuman primates. Lab Anim 1991 0.75
37 Combined effect of low-dose FK 506 and cyclosporine A on skin graft survival. Transplant Proc 1990 0.75
38 Perianal bowenoid papulosis presenting with pruritus ani. Br J Dermatol 1993 0.75
39 [Strange structure on an orthopantomogram]. Ned Tijdschr Tandheelkd 2000 0.75