| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling.
|
Lancet
|
1997
|
2.72
|
|
2
|
Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling.
|
Lancet
|
1992
|
2.15
|
|
3
|
Criminality in XYY and XXY men.
|
Science
|
1976
|
1.57
|
|
4
|
Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma.
|
Genes Chromosomes Cancer
|
1999
|
1.40
|
|
5
|
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.
|
J Med Genet
|
2000
|
1.30
|
|
6
|
High resolution comparative genomic hybridisation in clinical cytogenetics.
|
J Med Genet
|
2001
|
1.29
|
|
7
|
Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals.
|
Cytometry
|
1998
|
1.29
|
|
8
|
Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.
|
Clin Genet
|
1979
|
1.24
|
|
9
|
Comparative genomic hybridization in clinical cytogenetics.
|
Am J Hum Genet
|
1995
|
1.15
|
|
10
|
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.
|
Hum Genet
|
1986
|
1.11
|
|
11
|
Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals.
|
Genes Chromosomes Cancer
|
1999
|
1.11
|
|
12
|
Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.
|
Hum Genet
|
1983
|
1.11
|
|
13
|
Further delineation of the 22q13 deletion syndrome.
|
Clin Dysmorphol
|
2005
|
1.08
|
|
14
|
Comparative genomic hybridization reveals non-random chromosomal aberrations in early preinvasive cervical lesions.
|
Cancer Genet Cytogenet
|
2001
|
1.04
|
|
15
|
Choroideremia in interstitial deletion of the X chromosome.
|
Ophthalmic Paediatr Genet
|
1986
|
1.02
|
|
16
|
The frequency of chromosome aberrations in tall men with special reference to 47, XYY and 47, XXY.
|
Am J Hum Genet
|
1976
|
0.99
|
|
17
|
Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older.
|
Br J Obstet Gynaecol
|
1995
|
0.97
|
|
18
|
Automatic classification of chromosomes as part of a routine system for clinical analysis.
|
Cytometry
|
1986
|
0.95
|
|
19
|
A familial, balanced 2-5 translocation associated with trisomy 21 in one individual.
|
Hum Hered
|
1974
|
0.93
|
|
20
|
Semiautomated chromosome analysis. A clinical test.
|
Clin Genet
|
1985
|
0.93
|
|
21
|
Y-22 translocation in a YY male.
|
Cytogenet Cell Genet
|
1973
|
0.90
|
|
22
|
Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non-radioactive in situ hybridization.
|
Prenat Diagn
|
1992
|
0.90
|
|
23
|
Indication of primary immune deficiency in Fanconi's anemia.
|
Acta Paediatr Scand
|
1977
|
0.88
|
|
24
|
A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.
|
J Med Genet
|
1981
|
0.88
|
|
25
|
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
|
Eur J Hum Genet
|
2000
|
0.88
|
|
26
|
Optimization of DOP-PCR amplification of DNA for high-resolution comparative genomic hybridization analysis.
|
Cytometry
|
2001
|
0.87
|
|
27
|
Biomonitoring of genotoxic exposure among stainless steel welders.
|
Mutat Res
|
1992
|
0.85
|
|
28
|
Aneuploidy as a marker for carcinoma-in-situ of the testis.
|
Acta Pathol Microbiol Scand A
|
1981
|
0.84
|
|
29
|
Microspectrophotometry of trypsin-Leishman-stained human chromosomes.
|
Nature
|
1973
|
0.84
|
|
30
|
A test of a climate room for preparation of chromosome slides.
|
Clin Genet
|
1985
|
0.84
|
|
31
|
Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.
|
Ann Genet
|
2004
|
0.83
|
|
32
|
Detection of chromosomal aberrations in seminomatous germ cell tumours using comparative genomic hybridization.
|
Genes Chromosomes Cancer
|
1997
|
0.82
|
|
33
|
A case of partial deletion of the long arm of chromosome 7 (7q34 leads to 7qter).
|
Dan Med Bull
|
1983
|
0.82
|
|
34
|
Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis.
|
Cytometry
|
1997
|
0.81
|
|
35
|
Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH.
|
Clin Genet
|
2001
|
0.81
|
|
36
|
Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer.
|
Clin Genet
|
2004
|
0.79
|
|
37
|
The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma.
|
Cytogenet Genome Res
|
2004
|
0.79
|
|
38
|
A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4.
|
Cytogenet Cell Genet
|
1981
|
0.78
|
|
39
|
An expert diagnostic system based on neural networks and image analysis techniques in the field of automated cytogenetics.
|
Technol Health Care
|
1996
|
0.78
|
|
40
|
Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: chromosome quality, reporting time, and feto-maternal bleeding.
|
Prenat Diagn
|
1993
|
0.78
|
|
41
|
De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.
|
Am J Med Genet A
|
2004
|
0.78
|
|
42
|
Comparison of cell cultures, chromosome quality and karyotypes obtained after chorionic villus sampling and early amniocentesis with filter technique.
|
Prenat Diagn
|
1999
|
0.78
|
|
43
|
[Randomized comparison of transabdominal, transcervical chorionic villi sampling and amniocentesis].
|
Ugeskr Laeger
|
1993
|
0.77
|
|
44
|
Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution.
|
Clin Genet
|
1977
|
0.76
|
|
45
|
Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization: a one-year clinical experience with high-risk and urgent fetal and postnatal samples.
|
Acta Obstet Gynecol Scand
|
2000
|
0.76
|
|
46
|
Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies.
|
Prenat Diagn
|
1993
|
0.76
|
|
47
|
Description of chromosome banding patterns by band transition sequences: a new basis for automated chromosome analysis.
|
Clin Genet
|
1979
|
0.75
|
|
48
|
[Screening for Down syndrome and congenital abnormalities in the first versus the second trimester].
|
Ugeskr Laeger
|
2000
|
0.75
|
|
49
|
Microphotometry of banded human chromosomes. High resolving power by direct scanning of the specimen compared with scanning on microphotographs.
|
J Med Genet
|
1974
|
0.75
|
|
50
|
Clinical performance of a system for semiautomated chromosome analysis.
|
Am J Hum Genet
|
1987
|
0.75
|
|
51
|
Prenatal and postnatal prevalence of Turner's syndrome. No scientific evidence for study's conclusions.
|
BMJ
|
1996
|
0.75
|
|
52
|
[Misinformation about genetic tests].
|
Ugeskr Laeger
|
1999
|
0.75
|
|
53
|
[The clinical importance of chromosome abnormalities. Some problems illustrated by 2 examples].
|
Ugeskr Laeger
|
1974
|
0.75
|
|
54
|
High resolution comparative genomic hybridization detects 7-8 megabasepair deletion in PCR amplified DNA.
|
Anal Cell Pathol
|
2001
|
0.75
|
|
55
|
Visual classification of banded human chromosomes. I. Karyotyping compared with classification of isolated chromosomes.
|
Ann Hum Genet
|
1976
|
0.75
|
|
56
|
Early filtration amniocentesis for further investigation of mosaicism diagnosed by chorionic villus sampling.
|
Prenat Diagn
|
1996
|
0.75
|
|
57
|
Microphotometry of banded human chromosomes II. Technique for microphotography of banding patterns.
|
Clin Genet
|
1976
|
0.75
|
|
58
|
Studies on the mechanism of chromosome banding with trypsin.
|
Humangenetik
|
1974
|
0.75
|
|
59
|
[Automatic chromosome analysis in the routine laboratory].
|
Ugeskr Laeger
|
1987
|
0.75
|
|
60
|
Automatic chromosome analysis. II. Karyotyping of banded human chromosomes using band transition sequences.
|
Clin Genet
|
1981
|
0.75
|
|
61
|
[Detection of submicroscopic chromosome abnormalities by comparative genomic hybridization].
|
Ugeskr Laeger
|
2001
|
0.75
|
|
62
|
Visual classification of banded human chromosomes. III. Classification and karyotyping of density profiles described by band transition sequences.
|
Clin Genet
|
1979
|
0.75
|
|
63
|
Quantitative analysis of 6985 digitized trypsin G-banded human metaphase chromosomes.
|
Clin Genet
|
1980
|
0.75
|
|
64
|
Filtration and recirculation of early amniotic fluid. Evaluation of cell cultures from 100 diagnostic cases.
|
Prenat Diagn
|
1993
|
0.75
|
|
65
|
Automatic chromosome analysis. I. A simple method for classification of B- and D-group chromosomes represented by band transition sequences.
|
Clin Genet
|
1980
|
0.75
|
|
66
|
[Automatic chromosome analysis. An introduction to the problems, methods and results].
|
Ugeskr Laeger
|
1977
|
0.75
|
|
67
|
The selective miscarriage of Down's syndrome from 10 weeks of pregnancy.
|
Br J Obstet Gynaecol
|
1996
|
0.75
|
|
68
|
Genetic amniocentesis at 7-14 weeks of gestation.
|
Prenat Diagn
|
1992
|
0.75
|
|
69
|
[Early amniocentesis].
|
Ugeskr Laeger
|
1993
|
0.75
|
|
70
|
Letter: Inherited t2q-/15q+ translocation and Down's syndrome.
|
Clin Genet
|
1976
|
0.75
|
|
71
|
[Occurrence of chromosome abnormalities in 4,591 tall Danish men].
|
Ugeskr Laeger
|
1977
|
0.75
|
|
72
|
[Spontaneous abortions and stillbirths in relation to prenatal examinations in Denmark. Report from the Cytogenetic Central Register].
|
Ugeskr Laeger
|
1984
|
0.75
|
|
73
|
Microphotometry of banded human chromosomes III. Scanning on photographic negatives.
|
Clin Genet
|
1976
|
0.75
|
|
74
|
Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report.
|
Horm Res
|
2003
|
0.75
|
|
75
|
Aspects of automated chromosome analysis. Different representations of banded human chromosomes and their cytogenetic evaluation.
|
Dan Med Bull
|
1980
|
0.75
|
|
76
|
Improved sensitivity in comparative genomic hybridization analysis of DNA heteroploid cell mixtures after pre-enrichment of subpopulations by fluorescence activated cell sorting.
|
Anal Cell Pathol
|
1999
|
0.75
|
|
77
|
Visual classification of banded human chromosomes ii. classification and karyotyping of integrated density profiles.
|
Ann Hum Genet
|
1977
|
0.75
|