PubRank

W Friedl

Author PubWeight™ 95.29‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007 4.62
2 Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010 3.22
3 Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008 2.65
4 Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996 2.40
5 Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995 2.13
6 High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Genet 1989 1.91
7 Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 1990 1.90
8 Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol 2008 1.56
9 ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet 2000 1.55
10 Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994 1.48
11 [Secondary dislocations after Synex Cage implantation]. Unfallchirurg 2002 1.45
12 A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 2004 1.45
13 Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res 1997 1.43
14 Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998 1.41
15 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007 1.34
16 DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods 2001 1.30
17 Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors. Int J Cancer 2001 1.23
18 Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 2005 1.22
19 Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. Hum Genet 1993 1.21
20 Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet 1989 1.16
21 Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. Gut 1999 1.10
22 Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. Hum Mutat 1997 1.07
23 Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum Mol Genet 1994 1.05
24 Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 1996 1.04
25 A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans. Hum Hered 1998 0.99
26 Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects. Hum Genet 1981 0.99
27 Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. Digestion 2006 0.99
28 A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. Am J Gastroenterol 2001 0.98
29 MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol 2007 0.96
30 Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients. Hum Genet 1996 0.92
31 Bone cement implantation syndrome. A prospective randomised trial for use of antihistamine blockade. Arch Orthop Trauma Surg 1995 0.92
32 Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels. Arteriosclerosis 1990 0.91
33 Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J Med Genet 2000 0.91
34 Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. Am J Dermatopathol 1999 0.90
35 Natriuretic peptides in assessment of left-ventricular dysfunction. Scand J Clin Lab Invest Suppl 1999 0.90
36 [Locked dorsal shoulder dislocation and contralateral ventral shoulder dislocation fracture. A rare combination]. Unfallchirurg 1999 0.90
37 Bronchioloalveolar carcinoma: a new cancer in Peutz-Jeghers syndrome. Lung Cancer 2005 0.87
38 Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP. Hum Genet 1997 0.87
39 E-cadherin expression is homogeneously reduced in adenoma from patients with familial adenomatous polyposis: an immunohistochemical study of E-cadherin, beta-catenin and cyclooxygenase-2 expression. Int J Colorectal Dis 2004 0.87
40 Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Am J Med Genet 1988 0.86
41 Lipoprotein binding to cultured human hepatoma cells. J Clin Invest 1987 0.86
42 "Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation. J Invest Dermatol 2001 0.86
43 [Calcaneus pseudarthrosis: a clinical rarity]. Unfallchirurg 2000 0.86
44 A twin study on three enzymes (DBH, COMT, MAO) of catecholamine metabolism. Correlations with MMPI. Psychopharmacology (Berl) 1978 0.86
45 Genetic variation in the apolipoprotein AI-CIII-AIV gene cluster and coronary heart disease. Atherosclerosis 1988 0.86
46 Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis? Dev Neurosci 1991 0.85
47 Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online. Hum Mutat 1999 0.82
48 [Experimental studies of the effectiveness of the sliding principle in dynamic hip screw osteosynthesis and its value in managing unstable pertrochanteric femoral fractures]. Chirurg 1987 0.82
49 Detection of APC and k-ras mutations in the serum of patients with colorectal cancer. Cancer Detect Prev 2001 0.82
50 [The value of ultrasound in the diagnosis of capsule ligament injuries of the upper ankle joint]. Unfallchirurg 1989 0.82
51 [Germline mutation analysis in hMLH 1 and hMSH 2 genes in hereditary nonpolyposis colorectal cancer and colorectal cancer patients with familial history]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1998 0.82
52 [Compound double plate osteosynthesis in subtrochanteric pathologic fractures. A clinical and experimental study]. Chirurg 1986 0.81
53 Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. Z Gastroenterol 1993 0.81
54 Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages. Int J Mol Med 1998 0.81
55 Technetium-99m human immunoglobulin (HIG): a new substance for scintigraphic detection of bone and joint infections. Microsurgery 1996 0.81
56 Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene. Hum Mol Genet 1994 0.81
57 A beta-catenin mutation in a sporadic colorectal tumor of the RER phenotype and absence of beta-catenin germline mutations in FAP patients. Genes Chromosomes Cancer 1998 0.81
58 Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ). Neurogenetics 2000 0.80
59 [Functional results following conservative and surgical therapy of pathologic fractures in malignant diseases]. Langenbecks Arch Chir 1986 0.80
60 Epinephrine-induced platelet aggregation. A twin study. Clin Genet 1984 0.80
61 Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue. Hum Genet 1997 0.80
62 Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. Atherosclerosis 1991 0.80
63 Involvement of the visual pathway in hereditary neuropathy with liability to pressure palsies. J Neurol 2000 0.80
64 The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients. Hum Genet 1986 0.79
65 [Detection of germline mutations in the APC gene with the protein truncation test]. Yi Chuan Xue Bao 2005 0.79
66 Muir-Torre syndrome: clinical features and molecular genetic analysis. Br J Dermatol 1997 0.79
67 Prospective randomized comparison of gliding nail and gamma nail in the therapy of trochanteric fractures. Arch Orthop Trauma Surg 1999 0.79
68 New concepts in the treatment of ankle joint fractures. The IP-XS (XSL) and IP-XXS (XXSL) nail in the treatment of ankle joint fractures. Arch Orthop Trauma Surg 2003 0.79
69 Platelet monoamine oxidase in healthy subjects: the "biochemical high-risk paradigm" revisited. Arch Psychiatr Nervenkr (1970) 1981 0.78
70 Abnormal dystrophin expression in patients with limb girdle syndromes. J Neurol 1994 0.78
71 [Ranitidine and cimetidine in the prevention of stress: ulcer hemorrhage a prospective comparative multicenter study]. Langenbecks Arch Chir 1984 0.78
72 A novel germline mutation in the hMLH1 DNA mismatch repair gene in a patient with an isolated cystic sebaceous tumor. J Invest Dermatol 1999 0.78
73 [Results of treatment after different surgical procedures for management of acromioclavicular joint dislocation]. Chirurg 1993 0.78
74 A polymorphism in a region with enhancer activity in the second intron of the human apolipoprotein B gene. J Lipid Res 1991 0.78
75 MASA syndrome: clinical variability and linkage analysis. Am J Med Genet 1991 0.78
76 Genetic control of adrenergic receptors on human platelets. A twin study. Hum Genet 1983 0.77
77 Platelet MAO activity and high risk for psychopathology in a German population. Mod Probl Pharmacopsychiatry 1983 0.77
78 Phylogenetic comparison of the photoaffinity-labeled benzodiazepine receptor subunits. J Neurochem 1987 0.77
79 Human erythrocyte transketolase: no evidence for variants. Clin Chim Acta 1987 0.77
80 3H-imipramine binding in human platelets: a study in normal twins. Psychiatry Res 1984 0.77
81 Diagnosis and treatment of retroperitoneal hematoma in multiple trauma patients. Arch Orthop Trauma Surg 1992 0.77
82 Misleading phenotype in kindred with familial adenomatous polyposis. Lancet 1992 0.77
83 [Hereditary colorectal carcinoma: predictive diagnosis and genetic counseling]. Praxis (Bern 1994) 2001 0.77
84 Treatment of fractures of the fifth metatarsal with the XS-nail retrospective study and comparison with tension-band wiring. Arch Orthop Trauma Surg 2010 0.77
85 Biochemistry and clinical significance of lipoprotein (a). Ann Clin Biochem 1988 0.77
86 A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells--implications for predictive diagnosis. Hum Mol Genet 1994 0.76
87 [Restorative proctocolectomy with ileoanal J-pouch in symptomatic children with familial adenomatous polyposis coli (FAP). Indications and results]. Chirurg 1995 0.76
88 Benzodiazepine receptor subunits in avian brain. J Neurochem 1986 0.76
89 Intralipid causing adult respiratory distress syndrome. J Natl Med Assoc 1984 0.76
90 Genetics of coronary heart disease. Lancet 1989 0.75
91 A further RFLP of the cosmid KK5.33 (D5S85) on chromosome 5q. Nucleic Acids Res 1990 0.75
92 Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology 2001 0.75
93 Effect of ranitidine and cimetidine twice daily on the 24 h intragastric acidity in man. Br J Clin Pharmacol 1983 0.75
94 [Experimental studies of the loading capacity and deformation of pertrochanter osteotomies in extra and intramedullary osteosynthesis methods]. Unfallchirurgie 1984 0.75
95 Platelet monoamine oxidase activity in first-degree relatives of schizophrenic patients. Psychopharmacology (Berl) 1979 0.75
96 [Biomechanics of combined Kirschner wire osteosynthesis in the human model of unstable dorsal, distal radius fractures (Colles type)]. Chirurg 1997 0.75
97 [Soft tissue protective, stable osteosynthesis of fractures after elbow ankylosis. Two case reports]. Unfallchirurg 2005 0.75
98 Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 0.75
99 The concept of isoreceptors: application to the nicotinic acetylcholine receptor and the gamma-aminobutyric acidA/benzodiazepine receptor complex. J Neural Transm 1988 0.75
100 [The value of radiotherapy after modified radical mastectomy. 10-year results of the Heidelberg study]. Dtsch Med Wochenschr 1983 0.75
101 [Considerations on the differential indication of anterior cruciate ligament replacement]. Unfallchirurg 1999 0.75
102 Persistence of species variation and regional heterogeneity of the apparent molecular masses of benzodiazepine-binding proteins after deglycosylation. FEBS Lett 1988 0.75
103 A rare MspI RFLP of the DMD probe p20 (DXS269). Hum Genet 1992 0.75
104 The shark GABA-benzodiazepine receptor: further evidence for a not so late phylogenetic appearance of the benzodiazepine receptor. Brain Res 1988 0.75
105 [The value of clinical aspects, laboratory and circulatory parameters in blunt abdominal trauma]. Unfallchirurgie 1988 0.75
106 Further evidence for a correlation between EEG synchronization and plasma DBH activity in normal subjects. J Neural Transm 1980 0.75
107 Further characterization of the avian benzodiazepine receptor subunits including phylo- and ontogenetic aspects. J Neurochem 1987 0.75
108 Receptor variation as a source of differential response to centrally acting agents: phylogenetic evidence. Prog Clin Biol Res 1986 0.75
109 Genetic influences on pharmacodynamic properties of psychotropic drugs. Pharmacology 1979 0.75
110 [Clinical and mammographic late results following Strömbeck breast reduction-plasties]. Langenbecks Arch Chir 1986 0.75
111 3H-imipramine binding in platelets: influence of varying proportions of intact platelets in membrane preparations on binding. Psychopharmacology (Berl) 1983 0.75
112 Genetic influences on CNS diseases secondary to alcoholism. Prog Clin Biol Res 1987 0.75
113 [Simplified valgisation osteosynthesis of unstable pertrochanteric femoral fractures with a 150 degree dynamic hip screw (DHS)]. Chirurg 1986 0.75
114 [Diagnostic procedure in blunt abdominal trauma]. Chirurg 1985 0.75
115 [The prospects for Kirschner-wire osteosynthesis in the dorsally unstable distal radius fracture (Colles' type)]. Chirurg 1997 0.75
116 Qualitative variation of photolabelled benzodiazepine receptors in different species. Neurochem Int 1986 0.75
117 [Frequency, histomorphological and immunohistochemical characterization of male breast cancers]. Verh Dtsch Ges Pathol 1985 0.75
118 Combined Kirschner wire fixation in the treatment of Colles fracture. A prospective, controlled trial. Arch Orthop Trauma Surg 1999 0.75
119 Genetic studies at the receptor level: investigations in human twins and experimental animals. Ciba Found Symp 1986 0.75
120 [Stress fracture in biomechanical changes of the arch of the foot]. Unfallchirurg 1988 0.75
121 [Contribution of the ophthalmologist to presymptomatic diagnosis of familial adenomatous polyposis (FAP)]. Ophthalmologe 1995 0.75
122 Approaches to identification of HNPCC suspected patients in Slovak population. Neoplasma 2000 0.75
123 [Val384Asp in hMLH1 gene in Chinese, Japanese and German and its etiological role in colorectal cancer]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1998 0.75
124 [Fracture of the neck of the talus in a child]. Unfallchirurg 2006 0.75
125 [Comments on the contribution by A. Kropfl et al. "Callus formation after reamed and unreamed femoral intramedullary nailing"]. Unfallchirurg 2001 0.75
126 [The resting EEG in relation to neurovegetative status and spatial perception in normal young adults (author's transl)]. EEG EMG Z Elektroenzephalogr Elektromyogr Verwandte Geb 1979 0.75
127 Low platelet MAO activity and schizophrenia: sex differences. Acta Psychiatr Scand 1981 0.75
128 [Pathological fracture in fibrous histiocytoma of the proximal radial metaphysisJoint-preserving stabilization with the IP-XXS nail]. Unfallchirurg 2004 0.75
129 [A new microglossary for biopsy pathology]. Wien Klin Wochenschr 1982 0.75
130 [Load capacity and deformation of unstable pertrochanteric osteotomies following 145 degree angle plate osteosynthesis and Ender nailing]. Unfallchirurgie 1987 0.75
131 [Surgical stabilization of pathologic fractures. Effect on longevity and quality of life]. Versicherungsmedizin 1988 0.75
132 [Does sonographic evidence of blood in the abdomen following blunt abdominal trauma present an indication for surgery in every case?]. Unfallchirurg 1990 0.75
133 [Postoperative MRI morphology of the anterior cruciate ligament after primary ligament suture or ligament-plasty. A prospective study of 50 patients]. Aktuelle Radiol 1996 0.75
134 [The sex differences in the normal resting EEG of young adults (author's transl)]. EEG EMG Z Elektroenzephalogr Elektromyogr Verwandte Geb 1979 0.75
135 [Hereditary gastrointestinal tumors]. Internist (Berl) 1999 0.75
136 [I.v. famotidine versus i.v. ranitidine: intragastric pH behavior in surgical intensive care patients]. Z Gastroenterol 1985 0.75
137 [Ranitidine, cimetidine and the prevention of stress ulcers]. Dtsch Med Wochenschr 1983 0.75
138 Platelet MAO activity in patients with affective psychosis and their first-degree relatives. Pharmacopsychiatria 1981 0.75
139 Intraindividual stability and extent of genetic determination of platelet monoamine oxidase activity. Pharmacopsychiatria 1981 0.75
140 [New concept in therapy of distal tibial metaphyseal fractures and pilon fractures with minor dislocations and severe soft tissue damage]. Unfallchirurg 2002 0.75
141 Probe KK5.33 (D5S85) improves indirect genotype analysis in familial adenomatous polyposis. Hum Genet 1991 0.75
142 [Problems in osteosynthesis of patella fractures with the AO tension belt and consequences for new implants. The XS nail]. Chirurg 2001 0.75
143 Plasma DBH, platelet MAO and proteins of red blood cell membranes in individuals with variants of the normal EEG. Neuropsychobiology 1979 0.75
144 Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26. Am J Med Genet 2000 0.75
145 Phylogenetic receptor research: implications in studying psychiatric and neurological disease. J Psychiatr Res 1987 0.75
146 Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP). Folia Biol (Praha) 1997 0.75
147 [The diagnosis of hereditary colorectal carcinomas]. Dtsch Med Wochenschr 2000 0.75
148 [Isolated Ledderhose fibromatosis plantaris]. Chirurg 1993 0.75