PubRank

M B Petersen

Author PubWeight™ 94.25‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 1996 3.13
2 Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics 1989 2.16
3 Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet 1994 2.07
4 Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod 1998 1.81
5 The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 1992 1.67
6 Non-disjunction of chromosome 18. Hum Mol Genet 1998 1.62
7 Mitochondrial deafness. Clin Genet 2007 1.61
8 Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet 1997 1.57
9 Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet 1999 1.44
10 Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res 2000 1.40
11 Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 1992 1.38
12 Clinical and molecular aspects of aniridia. Clin Genet 2010 1.34
13 Interstitial deletion 1p in a 30 year old woman. J Med Genet 1987 1.29
14 Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet 1990 1.27
15 A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics 1993 1.26
16 Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet 2008 1.21
17 Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet 1995 1.21
18 Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 1998 1.12
19 Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics 1990 1.08
20 New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. J Med Genet 1987 1.04
21 High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clin Genet 2011 1.03
22 Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet 1999 1.03
23 Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet A 2006 1.01
24 Scratch induction in the rat by intradermal serotonin: a model for pruritus. Acta Derm Venereol 2001 0.98
25 Comparative study of bactericidal activities, postantibiotic effects, and effects of bacterial virulence of penicillin G and six macrolides against Streptococcus pneumoniae. Antimicrob Agents Chemother 1997 0.98
26 A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet A 2006 0.98
27 Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet 1999 0.97
28 Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 1999 0.97
29 Clinical variability of genetic isolates of Cohen syndrome. Clin Genet 2011 0.96
30 Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet 1992 0.96
31 DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet 1992 0.95
32 Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. Am J Med Genet 2000 0.93
33 "Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet 1994 0.92
34 High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 1999 0.91
35 BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat 2000 0.91
36 D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. Genomics 1992 0.89
37 Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet 1996 0.89
38 Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS). J Med Genet 1994 0.89
39 Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet 1998 0.89
40 Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. Clin Genet 1993 0.89
41 Rare chromosome 20 variants encountered during prenatal diagnosis. Prenat Diagn 1986 0.88
42 Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol 1999 0.87
43 Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat 2001 0.86
44 Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol 1999 0.86
45 Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia. Blood 1998 0.86
46 Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. Genomics 1991 0.86
47 Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet 1997 0.86
48 A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. Am J Hum Genet 1991 0.85
49 Status at two years in 121 very low birth weight survivors related to neonatal intraventricular haemorrhage and mode of delivery. Acta Paediatr Scand 1986 0.85
50 A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. Prenat Diagn 2002 0.85
51 Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet 1994 0.85
52 Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype. Am J Med Genet 2000 0.84
53 Measuring patient satisfaction: collecting useful data. J Nurs Qual Assur 1988 0.84
54 Exercise training favors increased insulin-stimulated glucose uptake in skeletal muscle in contrast to adipose tissue: a randomized study using FDG PET imaging. Am J Physiol Endocrinol Metab 2013 0.83
55 Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. Eur J Hum Genet 2001 0.83
56 Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. Clin Genet 2004 0.83
57 Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors. Eur J Contracept Reprod Health Care 1999 0.83
58 Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. Mol Med Rep 2010 0.82
59 Growing skull fracture--rupture of coronal suture caused by vacuum extraction. Neuroradiology 1987 0.82
60 Trisomy 14 mosaicism in a 2 year old girl. J Med Genet 1986 0.82
61 Patient survival after total knee arthroplasty. 5-year data in 926 patients. Acta Orthop Scand 1998 0.82
62 Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings. ORL J Otorhinolaryngol Relat Spec 2002 0.82
63 Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Hum Genet 1997 0.81
64 Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings. Fetal Diagn Ther 2009 0.81
65 FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population. Genet Epidemiol 1998 0.81
66 Dinucleotide repeat (GT)n markers on chromosome 21. Genomics 1992 0.80
67 Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. J Med Genet 1996 0.80
68 In vitro activity of six macrolides, clindamycin and tetracycline on Streptococcus pneumoniae with different penicillin susceptibilities. APMIS 1996 0.80
69 A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet 1997 0.79
70 Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000 0.79
71 A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Hum Genet 1991 0.79
72 Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect. Acta Paediatr 1997 0.79
73 Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. Clin Genet 1994 0.78
74 Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. Am J Med Genet 1993 0.78
75 Apolipoprotein E polymorphism in the Greek population. Clin Genet 1997 0.78
76 Rapid brain cooling in intubated pigs through nasal flushing with oxygen: prevention of brain hyperthermia. Acta Vet Scand 2001 0.78
77 Does sulfation of gastrin influence gastric acid secretion in man? Scand J Gastroenterol 1990 0.77
78 Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation. Prenat Diagn 2001 0.77
79 Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies. Am J Med Genet 1994 0.77
80 Determination of the fructosamine concentration in bovine serum samples. Zentralbl Veterinarmed A 1993 0.77
81 Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q. Br J Haematol 1998 0.77
82 Fatal congenital myopathy with actin filament deposits. Acta Neuropathol 1996 0.77
83 Intra-ventricular hemorrhage and method of delivery of very low birth weight infants. J Perinat Med 1983 0.77
84 Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face. Cytogenet Genome Res 2006 0.77
85 Genetic counseling of medullary breast cancer patients. Clin Genet 2004 0.76
86 Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. Histopathology 2006 0.76
87 The vanishing twin: an explanation for discordance between chorionic villus karyotype and fetal phenotype. Prenat Diagn 1991 0.76
88 A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin. Clin Genet 1997 0.76
89 A case of the ring 20 syndrome. Ann Genet 1989 0.76
90 Highly polymorphic repeat marker within the beta-amyloid precursor protein gene. Hum Genet 1994 0.76
91 A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family. J Med Genet 2006 0.76
92 [Prader-Willi syndrome--clinical picture and genetics]. Ugeskr Laeger 1995 0.76
93 Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. Cytogenet Genome Res 2012 0.76
94 Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation. Clin Genet 2000 0.76
95 Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis. J Neurol 2000 0.76
96 Apolipoprotein E alleles in mothers of trisomy 18 conceptuses. Clin Genet 1998 0.76
97 A case of apparent trisomy 21 without the Down's syndrome phenotype. J Med Genet 1997 0.75
98 Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland. Occup Environ Med 2000 0.75
99 Inservice instructors: adult educator competencies. J Contin Educ Nurs 1983 0.75
100 Genetics of serum lipids and lipoproteins. A study of twins at birth and 3-5 years of age. Acta Paediatr Scand 1982 0.75
101 The centralized education and nursing departments: collaboration or collision? J Contin Educ Nurs 1982 0.75
102 Tetrasomy 18p de novo: parental origin and different mechanisms of formation. Eur J Hum Genet 1996 0.75
103 Fatty acid composition of subcutaneous adipose tissue in mother-infant pairs. Acta Paediatr Scand 1987 0.75
104 Changes in plasma lipoproteins from first day to third week of life in healthy breast-fed infants. I. Lipid and protein composition of lipoproteins. Acta Paediatr Scand 1985 0.75
105 [48,XXYY syndrome in a 2-year-old boy]. Tidsskr Nor Laegeforen 1988 0.75
106 The efficacy of ivermectin against nodular worms of pigs: the response to treatment using three different dose levels against Oesophagostomum dentatum and Oesophagostomum quadrispinulatum. Int J Parasitol 1996 0.75
107 Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis. Prenat Diagn 2001 0.75
108 [How do we avoid being taken advantage of politically in the future?]. Sygeplejersken 1985 0.75
109 First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review. Clin Exp Obstet Gynecol 2012 0.75
110 ECEL1 mutation causes fetal arthrogryposis multiplex congenita. Am J Med Genet A 2015 0.75
111 Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome. Hum Genet 1993 0.75
112 [Anxiety as an indication for prenatal diagnosis--reasons and outcome of pregnancy]. Ugeskr Laeger 1986 0.75
113 Detection of penicillin resistance in Streptococcus pneumoniae by diffusion tests. APMIS 1996 0.75
114 Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece. Eur Arch Otorhinolaryngol 2003 0.75
115 A comparison of neurological assessment scores from two cohorts of low-birthweight children evaluated at age four years: Dublin and Copenhagen. Neuropediatrics 1992 0.75
116 Evaluation of 100 Müller curved-stem and 276 Müller long-stem total hip arthroplasties after 10 to 15 years of follow-up. Orthopedics 1998 0.75
117 Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions. Fetal Diagn Ther 1998 0.75
118 [Prevention of thrombosis in hip alloplasty]. Ugeskr Laeger 2001 0.75
119 Making time work for you. Nurs Life 1984 0.75
120 The relation between perinatal conditions and developmental outcome in low birthweight infants. Comparison of two cohorts. Acta Paediatr Scand 1991 0.75