PubRank

K Olek

Author PubWeight™ 65.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis. Hum Genet 1988 1.63
2 Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 1989 1.59
3 Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res 1992 1.36
4 Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res 1991 1.29
5 Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res 1991 1.26
6 Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet 1988 1.24
7 A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med 1988 1.21
8 Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics 1990 1.20
9 Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res 1990 1.20
10 A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics 1993 1.15
11 Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter. Science 1992 1.14
12 The molecular basis of alpha 1-antichymotrypsin deficiency in a heterozygote with liver and lung disease. J Hepatol 1993 1.12
13 Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996 1.10
14 Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A 1991 1.08
15 Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost 1995 1.07
16 Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001 1.03
17 Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet 1992 1.01
18 Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. Am J Hum Genet 1998 1.01
19 Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. Am J Hum Genet 1987 1.00
20 DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest 1990 0.99
21 Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event. Hum Genet 1992 0.99
22 Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics 1991 0.98
23 A human single-copy DNA probe (DR 47) detects a Taq I RFLP on chromosome 9 (D9S5). Nucleic Acids Res 1987 0.97
24 Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B. Am J Hum Genet 1989 0.95
25 Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. Lancet 1992 0.95
26 De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood 2000 0.94
27 Regeneration-associated high level expression of apolipoprotein D mRNA in endoneurial fibroblasts of peripheral nerve. EMBO J 1990 0.93
28 Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis. Blood 1989 0.92
29 Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations. Hum Genet 1993 0.92
30 Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet 1994 0.91
31 Cystic fibrosis: typing 48 German families with linked DNA probes. Hum Genet 1987 0.89
32 Chromosomal anchoring of linkage groups and identification of wing size QTL using markers and FISH probes derived from microdissected chromosomes in Nasonia (Pteromalidae: Hymenoptera). Cytogenet Genome Res 2004 0.88
33 Compound heterozygotes in hyperphenylalaninaemia. Hum Genet 1984 0.88
34 Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A. Am J Hum Genet 1993 0.87
35 Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 1995 0.86
36 Diagnostic difficulties in glucokinase hyperinsulinism. Horm Metab Res 2008 0.85
37 Haemophilia B+ with inhibitor. Thromb Haemost 1988 0.84
38 Mutations in severe hemophilia A: distribution within the factor VIII gene, origin and influence on inhibitor development. Beitr Infusionsther Transfusionsmed 1997 0.83
39 Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. Thromb Res 1991 0.83
40 Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing. Klin Wochenschr 1991 0.83
41 Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles. Klin Wochenschr 1990 0.82
42 Isolation and characterization of microsatellite marker loci in the greylag goose (Anser anser). Mol Ecol Resour 2008 0.82
43 Cystic fibrosis: typing 89 German families with linked DNA probes. Hum Genet 1988 0.82
44 DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg). Hum Genet 1991 0.82
45 Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A. Am J Hum Genet 1990 0.81
46 Comparison between intratracheal and intravenous administration of liposome-DNA complexes for cystic fibrosis lung gene therapy. Gene Ther 1998 0.81
47 Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. Blood 1992 0.81
48 Cloning of the human alpha 2-macroglobulin gene and detection of mutations in two functional domains: the bait region and the thiolester site. Hum Genet 1992 0.80
49 Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course. Klin Wochenschr 1991 0.80
50 A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA. Genomics 1994 0.80
51 Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg. Am J Hum Genet 1990 0.80
52 Mutations in haemophilia A. Br J Haematol 1993 0.79
53 [Maternal transmission or bovine spongiform encephalopathy in the case of "Cindy" disproved]. Berl Munch Tierarztl Wochenschr 1997 0.78
54 Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria. Humangenetik 1974 0.78
55 Free and conjugated CSF and plasma GABA in Huntington's chorea. Acta Neurol Scand 1986 0.78
56 [A new point mutation in the mitochondrial gene ND1, detected in a patient with type II diabetes]. Genetika 1995 0.78
57 Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes. Acta Endocrinol (Copenh) 1992 0.78
58 DNA haplotyping of PI Z and M alleles within the German population. Am J Hum Genet 1988 0.78
59 Hypersarcosinemia with craniostenosis-syndactylism syndrome. Humangenetik 1975 0.77
60 Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. Neurology 2003 0.77
61 Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles. Blood Coagul Fibrinolysis 1994 0.77
62 Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. Haemophilia 2001 0.77
63 Haemophilia A: carrier detection by DNA analysis. Blut 1988 0.77
64 Sequence variant of the human cathepsin G gene. Hum Genet 1993 0.76
65 Sequence polymorphism in the human alpha-2-macroglobulin (A2M) gene. Nucleic Acids Res 1991 0.75
66 RFLP of the human c-fes proto-oncogene. Nucleic Acids Res 1988 0.75
67 Detection of a TaqI polymorphism within the human TPA gene (PLAT). Nucleic Acids Res 1991 0.75
68 An EcoRI polymorphism in the human von Willebrand factor (vWF) gene. Nucleic Acids Res 1989 0.75
69 XmnI polymorphism in the human TPA gene. Nucleic Acids Res 1990 0.75
70 PstI polymorphism of the alpha 1-antitrypsin-like gene. Nucleic Acids Res 1989 0.75
71 [Quantitative determination of the o-phthaldialdehyde derivatives of noradrenaline, dopamine and normetadrenaline in urine with an amino acid analyzer (author's transl)]. J Clin Chem Clin Biochem 1980 0.75
72 Delta C in exon 18 of the von Willebrand gene is uncommon in German vWD type III patients. Thromb Haemost 1993 0.75
73 Amino acid metabolism during hemoperfusion over biological materials. Life Support Syst 1983 0.75
74 [Primary lung cancer from biopsy material of the Pathomorphology Department of the Silesian Medical Academy in Zabrze]. Pneumonol Pol 1989 0.75
75 Myotonic dystrophy and limb girdle muscular dystrophy in one family. Clin Investig 1994 0.75
76 [Gas chromatographic estimation of acidic urinary metabolites after separation on prepacked silica gel columns (author's transl)]. J Chromatogr 1978 0.75
77 Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4. Hum Genet 1979 0.75
78 The anonymous probe DR281 (D1S99) identifies a mspl polymorphism. Nucleic Acids Res 1990 0.75
79 [Influence of storing conditions on the amino acid concentration in human serum (author's transl)]. J Clin Chem Clin Biochem 1979 0.75
80 The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin. Hum Genet 1990 0.75
81 Rapid expression of c-fos specific messenger RNA after wounding of a BALB/c-3T3 fibroblast monolayer. J Clin Chem Clin Biochem 1987 0.75
82 Microdissection and microcloning of human chromosome 7q22-32 region. Somat Cell Mol Genet 1990 0.75
83 Human cDNA probe (OL11) detects RFLP on chromosome 12 (D12S10). Nucleic Acids Res 1987 0.75
84 [Possibilities and limits of temporary liver substitution by hemoperfusion with biological material]. Res Exp Med (Berl) 1983 0.75
85 Human cDNA probe detects RFLP on chromosome 12, OL 202 (HGM8 designated no. D12S9). Nucleic Acids Res 1986 0.75
86 [Short programs for the determination of amino acids in physiological fluids (author's transl)]. J Clin Chem Clin Biochem 1978 0.75
87 Comparison of a charcoal sorbent fiber with commercial charcoals for hemoperfusion. Artif Organs 1983 0.75
88 Cystic fibrosis in Argentina: the frequency of the delta F508 mutation. Hum Genet 1996 0.75
89 Prenatal diagnosis of cystic fibrosis. J Clin Chem Clin Biochem 1989 0.75
90 An anonymous single copy genomic probe (D8S9) (CW1) detects RFLP on chromosome 8. Nucleic Acids Res 1987 0.75
91 Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure. Hum Genet 1980 0.75
92 Statistical evaluation of a new method to detect carriers of phenylketonuria. Humangenetik 1975 0.75
93 Cystinuric heterozygotes and cystine-loading. Humangenetik 1975 0.75
94 [Quantitative fluorometric determination of 4-aminobutyric acid in cerebrospinal fluid using an amino acid analyzer]. J Clin Chem Clin Biochem 1984 0.75
95 HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency. J Clin Chem Clin Biochem 1990 0.75
96 Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading. Eur J Pediatr 1978 0.75
97 Evaluation of random cDNA clones as probes for human restriction fragment length polymorphisms. J Clin Chem Clin Biochem 1988 0.75
98 Microdissection and microcloning of the long arm of human chromosome 7. Mol Biol Rep 1987 0.75
99 [Excretion of transamination products in hyperphenylalaninemia (author's transl)]. Klin Wochenschr 1980 0.75
100 [Allele-specific sequencing]. Dokl Akad Nauk 1995 0.75
101 Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel. Hum Genet 1990 0.75
102 [Use of polymorphic DNA markers in the assessment of stains]. Beitr Gerichtl Med 1988 0.75
103 Phenylketonuria in a patient with cystinuria. Humangenetik 1975 0.75
104 Simultaneous gas chromatographic determination of the cumene metabolites 2-phenylpropanol-1 and 2-phenylpropanol-2 in urine. J Chromatogr 1978 0.75
105 The anonymous probe DR258 (D7S438) identifies a HindIII polymorphism. Nucleic Acids Res 1990 0.75
106 Human cDNA probe (OL167,D21S109) detects RFLP on chromosome 21. Nucleic Acids Res 1987 0.75
107 [Quantitative determination of aromatic carboxylic acids with glass-capillary-columns (author's transl)]. J Clin Chem Clin Biochem 1977 0.75
108 [Concentrations of free and bound 4-aminobutyric acid in human serum: reference values]. J Clin Chem Clin Biochem 1985 0.75
109 [Forensic application of DNA fingerprints]. Beitr Gerichtl Med 1987 0.75
110 Human cDNA probe (cCW147) detects RFLP on chromosome 5 (D5S9). Nucleic Acids Res 1987 0.75