PubRank

M Anvret

Author PubWeight™ 94.60‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992 4.44
2 A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990 2.20
3 Meiotic drive at the myotonic dystrophy locus? Nat Genet 1994 2.08
4 Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001 1.99
5 Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994 1.79
6 Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by Epstein-Barr virus complementary RNA/DNA and viral DNA/DNA hybridization. Cancer Res 1981 1.72
7 Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 1993 1.55
8 Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 1994 1.53
9 Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994 1.46
10 A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet 1990 1.39
11 Mutation screening in Rett syndrome patients. J Med Genet 2000 1.38
12 DNA linkage analysis of X-linked retinoschisis. Hum Genet 1988 1.31
13 Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun 2005 1.28
14 Evidence for integrated EBV genomes in Raji cellular DNA. Nucleic Acids Res 1984 1.27
15 Epstein-Barr virus in nasopharyngeal and salivary gland carcinomas of Greenland Eskimoes. Br J Cancer 1982 1.18
16 NURR1 mutations in cases of schizophrenia and manic-depressive disorder. Am J Med Genet 2000 1.16
17 Recombination events that locate myotonic dystrophy distal to APOC2 on 19q. Genomics 1989 1.15
18 Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet 1995 1.13
19 DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria. Hum Genet 1988 1.13
20 Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? Nat Genet 2001 1.11
21 Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 1992 1.10
22 Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993 1.08
23 Epstein-Barr virus markers in a series of Burkitt's lymphomas from the West Nile District, Uganda. Eur J Cancer Clin Oncol 1983 1.04
24 Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 2001 1.04
25 The trophoblastic epithelial barrier is not infected in full-term placentae of human immunodeficiency virus-seropositive mothers undergoing antiretroviral therapy. J Virol 1999 1.02
26 Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sci U S A 1991 1.02
27 A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. Hum Mutat 1998 1.01
28 Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by clinical, virological, and immunopathological studies. Cancer Res 1981 1.01
29 Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet 2001 1.00
30 Epstein-Barr-virus-carrying lymphoma in a patient with ataxia-telangiectasia. Br Med J (Clin Res Ed) 1981 0.98
31 Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. J Med Genet 1998 0.97
32 B cell phenotype-dependent expression of the Epstein-Barr virus nuclear antigens EBNA-2 to EBNA-6: studies with somatic cell hybrids. J Gen Virol 1991 0.97
33 Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 1992 0.94
34 Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria. Hum Genet 1991 0.93
35 Low frequency of RET mutations in Hirschsprung disease in Sweden. Clin Genet 1998 0.93
36 A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Am J Hum Genet 1998 0.92
37 Screening for mutations in candidate genes for hypospadias. Urol Res 1999 0.91
38 Dopamine D1 receptor number--a sensitive PET marker for early brain degeneration in Huntington's disease. Eur Arch Psychiatry Clin Neurosci 1994 0.90
39 X chromosome linkage studies in familial Rett syndrome. Hum Genet 1993 0.90
40 Alcohol dehydrogenase alleles in Parkinson's disease. Mov Disord 2000 0.89
41 Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet 1995 0.89
42 Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene). Hum Mol Genet 1992 0.88
43 Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum Genet 1991 0.86
44 High suicidal ideation in persons testing for Huntington's disease. Acta Neurol Scand 2000 0.86
45 Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann Neurol 1999 0.85
46 Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. Hum Mol Genet 1999 0.85
47 Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status. Am J Med Genet 1997 0.84
48 Failure to achieve gene conversion with chimeric circular oligonucleotides: potentially misleading PCR artifacts observed. Antisense Nucleic Acid Drug Dev 1998 0.84
49 Rett syndrome: random X chromosome inactivation. Clin Genet 1994 0.84
50 A normal male with an inherited deletion of one exon within the DMD gene. Hum Genet 1990 0.83
51 On laboratory problems in diagnosing mild von Willebrand's disease. Am J Hematol 1992 0.83
52 Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands. Proc Natl Acad Sci U S A 1993 0.83
53 Welander distal myopathy--an overview. Neuromuscul Disord 1998 0.83
54 Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am J Med Genet 1992 0.83
55 Linkage of G8 (D4S10) in two Swedish families with Huntington's disease. Clin Genet 1987 0.83
56 Constitutional and somatic mutations in the WT1 gene in Wilms' tumor patients. Int J Cancer 1995 0.82
57 Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient. Am J Med Genet 1991 0.82
58 A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res 1999 0.82
59 Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet 1999 0.82
60 Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease. Neurology 1998 0.82
61 A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. Biochem Biophys Res Commun 2001 0.82
62 Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). Hum Genet 1998 0.82
63 Treatment of adrenoleukodystrophy with bone marrow transplantation. Acta Paediatr 1997 0.81
64 Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction. Hum Genet 1990 0.81
65 A linkage study of the locus for X-linked Charcot-Marie-Tooth disease. Clin Genet 1988 0.81
66 APOE genotypes and disease severity in multiple sclerosis. Mult Scler 2002 0.81
67 A PstI polymorphism for the human porphobilinogen deaminase gene (PBG). Nucleic Acids Res 1987 0.81
68 Variation of CTG-repeat number of the DMPK gene in muscle tissue. Neuromuscul Disord 1997 0.81
69 Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods. J Intern Med 1995 0.81
70 Lack of evidence of permanent engraftment after in utero fetal stem cell transplantation in congenital hemoglobinopathies. Transplantation 1996 0.81
71 A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients. Hum Mol Genet 1992 0.81
72 Genetic mapping of loci for X-linked retinitis pigmentosa. Clin Genet 1991 0.80
73 Copy number and location of Epstein-Barr Viral genomes in neonatal human lymphocytes transformed after separation by size and treatment with mitogens. Virology 1981 0.80
74 Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics 1994 0.80
75 DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease. Clin Genet 1993 0.80
76 Parental exposure to hydrocarbons in Prader-Willi syndrome. Dev Med Child Neurol 1995 0.80
77 Identification of four novel polymorphisms in the calcitonin/alpha-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression. Hum Mutat 2001 0.80
78 Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. Hum Genet 1994 0.80
79 An EcoRI polymorphism of the human von Willebrand factor cDNA (VWF). Nucleic Acids Res 1989 0.79
80 Genetic carrier detection in Norwegian families with acute intermittent porphyria. Scand J Clin Lab Invest 1993 0.79
81 Increased leptin messenger RNA and serum leptin levels in children with Prader-Willi syndrome and nonsyndromal obesity. Pediatr Res 1997 0.79
82 Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III. Hum Mol Genet 1992 0.79
83 WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin. Hum Genet 1994 0.78
84 Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. J Med Genet 1995 0.78
85 Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. Hum Genet 1997 0.77
86 Effects of the mutant von Willebrand factor gene in von Willebrand disease. Hum Genet 1995 0.77
87 A new approach to gene therapy. Blood Coagul Fibrinolysis 1997 0.77
88 Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration. J Biol Chem 2000 0.77
89 394delTT: a Nordic cystic fibrosis mutation. Hum Genet 1994 0.76
90 No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia. J Pediatr Surg 1996 0.76
91 Chromosome findings in the Rett syndrome and a test of a two-step mutation theory. Am J Med Genet Suppl 1986 0.76
92 PstI RFLP for the anonymous [D13S2] (p9D11) probe. Nucleic Acids Res 1989 0.75
93 An EcoRI polymorphism of the human von Willebrand factor cDNA (VWF). Nucleic Acids Res 1989 0.75
94 A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. Neuromuscul Disord 1999 0.75
95 [A new mutation causes achondrodysplasia. A simple DNA analysis confirms the diagnosis]. Lakartidningen 1997 0.75
96 [Prader-Willi syndrome or Angelman syndrome? A question of maternal or paternal chromosome 15]. Lakartidningen 1992 0.75
97 [Development of molecular genetics and Charcot-Marie-Tooth disease. Important changes in clinical diagnostics]. Lakartidningen 1997 0.75
98 Evaluation of DNA-based diagnosis for haemophilia A. Scand J Clin Lab Invest 1991 0.75
99 Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Neuromuscul Disord 1998 0.75
100 Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden. Clin Genet 1999 0.75
101 Linkage analysis of the Rett syndrome using human chromosomal specific probes. Brain Dev 1985 0.75
102 Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families. Clin Genet 1991 0.75
103 Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q. Hum Genet 1988 0.75
104 Diagnosis of the Prader-Willi syndrome by proving the absence of the unmethylated PW71 DNA fragment. Acta Paediatr 1996 0.75
105 [Diagnosis of cystic fibrosis by means of genetic technology--guidelines from an expert meeting]. Lakartidningen 1990 0.75
106 CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities. Eur J Neurol 1999 0.75
107 [The gene of spinal muscular atrophy localized. Possibilities for prenatal diagnosis]. Lakartidningen 1993 0.75
108 C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data. Neuromuscul Disord 1997 0.75
109 [Retinitis pigmentosa--more families are needed to localize the genes]. Lakartidningen 1986 0.75
110 Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. Acta Paediatr 1996 0.75
111 The Rett syndrome related to fragile X(P22) in caffeine-induced lymphocyte culture. Brain Dev 1990 0.75
112 Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. Neuropediatrics 2001 0.75
113 Hemophilia B in a 46,XX female probably caused by non-random X inactivation. Clin Genet 1993 0.75
114 Characterization and regulation of the nonerythroid porphobilinogen deaminase promoter. Biochem Biophys Res Commun 1997 0.75
115 Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF). J Assist Reprod Genet 1994 0.75
116 [Familial adenomatous polyposis. The gene of the disease was recently isolated--the pathogenesis of colonic cancer can be explained]. Lakartidningen 1992 0.75
117 [Increasing number of hemoglobinopathies. Rapid diagnosis with DNA technique]. Lakartidningen 1992 0.75
118 [Gene identification for Huntington's disease. Direkt mutational analysis confirms the diagnosis]. Lakartidningen 1995 0.75
119 Welander distal myopathy is not linked to other defined distal myopathy gene loci. Neuromuscul Disord 1997 0.75
120 Understanding von Willebrand's disease from gene defects to the patients. J Intern Med Suppl 1997 0.75
121 [Rett syndrome--from a healthy infant to a disabled woman]. Lakartidningen 1989 0.75
122 MECP2 mutations in Swedish Rett syndrome clusters. Clin Genet 2002 0.75
123 [Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis]. Lakartidningen 1997 0.75