Published in Hum Genet on January 01, 1985
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Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk. Hum Genet (1991) 0.97
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Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet (1999) 0.95
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Humangenetik (1972) 0.95
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The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases. Am J Kidney Dis (1988) 0.93
Round-headed human spermatozoa. Fertil Steril (1976) 0.92
Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. Hum Genet (1981) 0.91
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Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. Am J Med Genet (1990) 0.91
Ichthyosis congenita type III. Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group. Arch Dermatol Res (1988) 0.90
Determination of deoxycorticosterone in plasma; double isotope and immunoassay methods. Steroids (1971) 0.89
Environment-dependent performance and fitness of Iris brevicaulis, I. fulva (Iridaceae), and hybrids. Am J Bot (2001) 0.88
Wild chromosomal variants in Aspergillus nidulans. Curr Genet (1996) 0.88
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol (1999) 0.88
An agreed statement on calculating lead concentration and uncertainty in XRF in vivo bone lead analysis. Appl Radiat Isot (2003) 0.87
[Origin and nature of fibrillar bodies (author's transl)]. Arch Dermatol Forsch (1973) 0.87
Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin. Humangenetik (1972) 0.87
Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol (1982) 0.86
Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. Pediatr Dermatol (1997) 0.85
Prenatal diagnosis of inherited epidermolyses. Curr Probl Dermatol (1987) 0.85
Epidermolysis bullosa dystrophica dominans (Pasini)-a primary structural defect of the anchoring fibrils. Hum Genet (1976) 0.85
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Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum Mutat (1998) 0.85
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Ultrastructural studies in epidermolysis bullosa hereditaria. II. Dominant dystrophic type of Cockayne and Touraine. Arch Dermatol Res (1976) 0.84
Pregnancy and delivery in a patient with mutilating dystrophic epidermolysis bullosa (Hallopeau-Siemens type). Obstet Gynecol (1997) 0.84
Keratohyalin granules are heterogeneous in ridged and non-ridged human skin: evidence from anti-filaggrin immunogold labelling of normal skin and skin of autosomal dominant ichthyosis vulgaris patients. Arch Dermatol Res (1991) 0.84
Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa. J Invest Dermatol (1992) 0.83
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[Intracellular cilia in human epidermal cells]. Arch Dermatol Forsch (1972) 0.82
Prenatal diagnosis of epidermolysis bullosa dystrophica Hallopeau-Siemens with electron microscopy of fetal skin. Lancet (1981) 0.82
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet (1996) 0.82
Bicomponent keratohyalin in normal human ridged skin. Arch Dermatol Res (1990) 0.82
A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin. J Invest Dermatol (1997) 0.81
Differences in pollen-tube growth rate and reproductive isolation between Louisiana irises. J Hered (1998) 0.81
A mother and two children with nonbullous congenital ichthyosiform erythroderma. Arch Dermatol (1986) 0.81
Adult generativity and the socialization of adolescents: relations to mothers' and fathers' parenting beliefs, styles, and practices. J Pers (2001) 0.81
Disseminated cicatricial pemphigoid in a child and in an adult. Ultrastructural diagnostic criteria and differential diagnosis with special reference to acquired epidermolysis bullosa. Arch Dermatol Res (1987) 0.80
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. Hum Mol Genet (1994) 0.80
Prenatal diagnosis of anhydrotic ectodermal dysplasia. Hum Genet (1982) 0.80
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Hum Mol Genet (1993) 0.80
Epidermolysis bullosa hereditaria letalis: report of a case and probable ultrastructural defects. Helv Paediatr Acta (1976) 0.79
Is filaggrin really a filament-aggregating protein in vivo? Arch Dermatol Res (1993) 0.79
[Ultrastructure of inborn errors of keratinization. V. Ichthyosis in Refsum's syndrome (heredopathia atactica polyneuritiformis) (author's transl)]. Arch Dermatol Forsch (1974) 0.79
Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy. Arch Dermatol Res (1989) 0.79
Ultrastructure of inborm errors of keratinization. VII. Porokeratosis Mibelli and disseminated superficial actinic porokeratosis. Arch Dermatol Res (1976) 0.79
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. Arch Dermatol Res (1990) 0.78
A novel substitution in keratin 10 in epidermolytic hyperkeratosis. J Invest Dermatol (1999) 0.78
Prenatal exclusion of Herlitz syndrome by electron microscopy of fetal skin biopsies obtained at fetoscopy. Acta Derm Venereol (1983) 0.78
Prenatal diagnosis of anhidrotic ectodermal dysplasia. Prenat Diagn (1984) 0.78
[Congenital bullous ichthyosiforme erythrodema. Ultrastructural control of treatment with the ethyl ether of an aromatic compound of retinoic acid]. Ann Dermatol Venereol (1977) 0.78
[Clinical aspects of epidermolyses with junctional blister formation (author's transl)]. Dermatologica (1979) 0.78
Progressive erythrokeratodermia and cochlear hearing impairment. A case report and review of the literature. Int J Pediatr Otorhinolaryngol (1988) 0.78
Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels. J Invest Dermatol (1982) 0.78
Generativity and moral development as predictors of value-socialization narratives for young persons across the adult life span: from lessons learned to stories shared. Psychol Aging (1999) 0.78
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. J Invest Dermatol (1999) 0.77
Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency. Graefes Arch Clin Exp Ophthalmol (1988) 0.77
[Erythrokeratolysis hiemalis. Erythematosquamous genetic dermatosis with seasonal manifestation]. Hautarzt (1994) 0.77
Age-specific fitness components in hybrid females of Drosophila pseudoobscura and D. persimilis. J Hered (2001) 0.77
False-negative prenatal diagnosis of restrictive dermopathy. Am J Med Genet (1992) 0.77
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