PubRank

L Pulkkinen

Author PubWeight™ 95.70‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990 2.86
2 Link between plasma ceramides, inflammation and insulin resistance: association with serum IL-6 concentration in patients with coronary heart disease. Diabetologia 2009 2.63
3 Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol 1997 2.23
4 Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995 1.90
5 Drinking or abstaining at age 14? A genetic epidemiological study. Alcohol Clin Exp Res 2001 1.81
6 Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996 1.78
7 Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 1996 1.75
8 Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med 2001 1.71
9 Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995 1.69
10 Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet 1994 1.63
11 Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997 1.57
12 Aggression in childhood and long-term unemployment in adulthood: a cycle of maladaptation and some protective factors. Dev Psychol 2000 1.34
13 Weight reduction modulates expression of genes involved in extracellular matrix and cell death: the GENOBIN study. Int J Obes (Lond) 2007 1.26
14 Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998 1.17
15 Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet 1996 1.16
16 Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet 2001 1.14
17 Characterization of trimethoprim resistance by use of probes specific for transposon Tn7. Antimicrob Agents Chemother 1984 1.10
18 Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol 2001 1.08
19 Genetic and environmental effects on body mass index during adolescence: a prospective study among Finnish twins. Int J Obes (Lond) 2009 1.07
20 Molecular complexity of the cutaneous basement membrane zone. Mol Biol Rep 1996 1.04
21 Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res 2001 1.03
22 Restriction map of virulence plasmid in Yersinia enterocolitica O:3. Plasmid 1986 1.01
23 The gene gun: current applications in cutaneous gene therapy. Int J Dermatol 2000 1.00
24 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 1996 0.99
25 Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet 1997 0.98
26 Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. Am J Kidney Dis 2000 0.97
27 Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 1997 0.97
28 Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 1994 0.97
29 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum Mol Genet 1999 0.96
30 Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 1996 0.96
31 Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci 1994 0.95
32 A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 1996 0.95
33 Molecular genetics of heritable blistering disorders. Arch Dermatol 2001 0.94
34 Association of sequence variations in the gene encoding adiponectin receptor 1 (ADIPOR1) with body size and insulin levels. The Finnish Diabetes Prevention Study. Diabetologia 2006 0.94
35 Chernobyl exposure as stressor during pregnancy and hormone levels in adolescent offspring. J Epidemiol Community Health 2008 0.94
36 Genetic variation in leptin receptor gene is associated with type 2 diabetes and body weight: The Finnish Diabetes Prevention Study. Int J Obes (Lond) 2005 0.93
37 Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 1997 0.93
38 Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. J Am Acad Dermatol 1999 0.93
39 Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat 1997 0.92
40 Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management. Pediatr Dermatol 2000 0.91
41 Emergence of trimethoprim resistance in relation to drug consumption in a Finnish hospital from 1971 through 1984. Antimicrob Agents Chemother 1986 0.89
42 Downregulation of genes involved in NFkappaB activation in peripheral blood mononuclear cells after weight loss is associated with the improvement of insulin sensitivity in individuals with the metabolic syndrome: the GENOBIN study. Diabetologia 2008 0.88
43 Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 1995 0.88
44 The genodermatoses: candidate diseases for gene therapy. Hum Gene Ther 2000 0.88
45 Deletion in the FMR1 gene in a fragile-X male. Am J Med Genet 1996 0.87
46 Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol 1998 0.87
47 Emergence of trimethoprim resistance in fecal flora. Antimicrob Agents Chemother 1985 0.87
48 Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa. J Invest Dermatol 1995 0.87
49 A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet 1994 0.86
50 Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 1996 0.85
51 Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. J Invest Dermatol 2001 0.85
52 Widespread pain among 11-year-old Finnish twin pairs. Arthritis Rheum 2001 0.85
53 Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2000 0.85
54 Microfibrillar-associated protein 5 is linked with markers of obesity-related extracellular matrix remodeling and inflammation. Nutr Diabetes 2011 0.84
55 Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. J Invest Dermatol 2000 0.84
56 Accumulation of problems in social functioning in young adulthood: a developmental approach. J Pers Soc Psychol 1995 0.84
57 Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin. J Invest Dermatol 1997 0.84
58 Transferable trimethoprim resistance in three Finnish hospitals. J Antimicrob Chemother 1983 0.84
59 Chernobyl exposure as stressor during pregnancy and behaviour in adolescent offspring. Acta Psychiatr Scand 2007 0.83
60 Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in subjects with impaired glucose tolerance in the Finnish Diabetes Prevention Study. Diabet Med 2006 0.83
61 A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997 0.82
62 Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J Invest Dermatol 1998 0.82
63 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 1997 0.82
64 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
65 Serum concentrations and expressions of serum amyloid A and leptin in adipose tissue are interrelated: the Genobin Study. Eur J Endocrinol 2008 0.81
66 Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests. J Invest Dermatol 1999 0.81
67 A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 1997 0.80
68 Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. Lab Invest 1998 0.80
69 Trimethoprim resistance of Escherichia coli in outpatients in Finland after ten years' use of plain trimethoprim. J Antimicrob Chemother 1985 0.80
70 Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol 1997 0.80
71 Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. J Invest Dermatol 1999 0.80
72 The role of parents' self-esteem, mastery-orientation and social background in their parenting styles. Scand J Psychol 1999 0.80
73 Prospective relationships of ADHD symptoms with developing substance use in a population-derived sample. Psychol Med 2011 0.80
74 Association of sequence variations in the gene encoding insulin-like growth factor binding protein 5 with adiponectin. Int J Obes (Lond) 2008 0.79
75 Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. Arch Dermatol Res 1999 0.79
76 Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. Neuromuscul Disord 1998 0.79
77 The genetic variation in the tenomodulin gene is associated with serum total and LDL cholesterol in a body size-dependent manner. Int J Obes (Lond) 2008 0.78
78 Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 1997 0.78
79 Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 1996 0.78
80 A search for parenting style: a cross-situational analysis of parental behavior. Genet Soc Gen Psychol Monogr 2001 0.78
81 Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation. J Biol Chem 2001 0.78
82 Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex. Br J Dermatol 2000 0.77
83 Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn 1995 0.77
84 Fragile-X syndrome in east Finland: molecular approach to genetic and prenatal diagnosis. Am J Med Genet 1994 0.77
85 Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 1998 0.77
86 A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 1997 0.77
87 Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. J Invest Dermatol 1998 0.77
88 Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. J Invest Dermatol 2000 0.77
89 Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 1998 0.77
90 Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Hum Mutat 1998 0.76
91 Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. J Invest Dermatol 1997 0.76
92 Antenatal genetic screening for congenital nephrosis. Prenat Diagn 2001 0.76
93 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 1998 0.76
94 Epidermolysis bullosa in Mexico. Int J Dermatol 2000 0.75
95 How to find a mutation behind an inherited disease. Ann Clin Res 1986 0.75
96 Yersinia enterocolitica plasmid in fecal flora of patients with reactive arthritis. J Infect Dis 1986 0.75
97 Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? J Invest Dermatol 2001 0.75
98 Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res 1997 0.75
99 Lack of DNA homology between arthritis triggering bacteria and plasmid of Yersinia enterocolitica or Chlamydia trachomatis. J Rheumatol 1986 0.75
100 A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. Arch Dermatol Res 2000 0.75
101 The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. J Invest Dermatol 1998 0.75
102 Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). J Invest Dermatol 1999 0.75
103 Novel premature termination codon mutations in the laminin gamma2-chain gene (LAMC2) in Herlitz junctional epidermolysis bullosa. J Invest Dermatol 1998 0.75
104 [Do bacterial antigens persist in patients with reactive arthritis?]. Ter Arkh 1986 0.75
105 [Markers of virulence of Yersinia enterocolitica strain 0:3 isolated from patients with and without arthritis]. Ter Arkh 1986 0.75
106 Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 1998 0.75
107 [Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene]. Hautarzt 1999 0.75
108 Cutaneous gene therapy. Principles and prospects. Dermatol Clin 2000 0.75
109 Hydroxyurea inhibits also the syntheses of thymine nucleotides and methionine in the cells of Escherichia coli. Biochem Int 1983 0.75