Published in Lancet on October 05, 1974
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Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet (1983) 2.93
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet (1980) 1.82
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet (1994) 1.78
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Cytogenetics of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. Cancer Genet Cytogenet (1992) 1.39
Multiple clonal chromosome abnormalities in a superficial basal cell epithelioma. Cancer Genet Cytogenet (1989) 1.38
Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's Syndrome. Hum Genet (1982) 1.28
Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile. Hum Genet (1977) 1.24
A new chromosome instability disorder. Clin Genet (1986) 1.23
Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet (1996) 1.19
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet (1981) 1.18
Y chromosome controls mating behaviour on Anopheles mosquitoes. Nature (1977) 1.17
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics (1991) 1.12
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia (2009) 1.12
Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. Hum Reprod (1987) 1.02
Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet (2001) 1.02
Evidence for an ancestral alphoid domain on the long arm of human chromosome 2. Hum Genet (1992) 1.01
Structural abnormalities of chromosome 18. II. Two familial translocations, B-18 and 16-18, ascertained through unbalanced forms. Ann Genet (1971) 1.00
Cd bands and centromeric function in dicentric chromosomes. Hum Genet (1980) 0.98
A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet (1980) 0.98
15/15 translocation in Prader-Willi syndrome. J Med Genet (1977) 0.97
A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus. Hum Genet (1979) 0.96
Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Science (1967) 0.96
X-linked cataract. Ann Hum Genet (1967) 0.95
Incorporation of tritium-labelled actinomycin in a human cell line. Exp Cell Res (1966) 0.95
Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet (1984) 0.94
Male infertility and 13-14 translocation. Lancet (1973) 0.94
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. Hum Genet (1986) 0.94
Extra minute chromosome in somatic and germ-line cells of the same person. Lancet (1966) 0.93
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. Cancer Genet Cytogenet (1991) 0.92
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum Genet (1993) 0.91
Localization of Y chromosome sequences and X chromosomal replication studies in XX males. Hum Genet (1989) 0.91
Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum Genet (1981) 0.91
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a glucagonoma from two subjects with MEN1. Cancer Genet Cytogenet (1992) 0.91
The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet (1982) 0.91
False-positive and false-negative findings on chorionic villus sampling. Prenat Diagn (1987) 0.90
48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes. Cytogenetics (1968) 0.90
Timing of DNA replication of translocated Y chromosome sections in somatic cells of Drosophila melanogaster. Chromosoma (1969) 0.90
Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus. Hum Genet (1982) 0.88
Changes in glial fibrillary acidic protein and karyotype during culturing of two cell lines established from human glioblastoma multiforme. Cell Tissue Res (1991) 0.88
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect. Hum Genet (1978) 0.88
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Hum Genet (1983) 0.88
Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases. Hum Genet (1982) 0.88
High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimate of the gene frequency. Hum Genet (1982) 0.87
Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son. Ann Genet (1971) 0.86
BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities. Cytogenet Cell Genet (1978) 0.85
Homozygotes for the autosomal dominant neoplasia syndrome (MEN1). Am J Hum Genet (1993) 0.85
Non-fluorescent Y chromosome in a 45,X-46,XY mosaic. Ann Genet (1972) 0.85
Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. Leukemia (2007) 0.84
Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli. Cancer Genet Cytogenet (1989) 0.84
Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome. Ann Genet (1990) 0.84
First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet (1985) 0.84
Xp duplications and sex reversal. Philos Trans R Soc Lond B Biol Sci (1995) 0.83
Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. Hum Genet (1987) 0.83
A novel mechanism for the origin of supernumerary marker chromosomes. Hum Genet (1996) 0.83
Timing of sex chromosome replication in somatic and germ-line cells of the mouse and the rat. Cytogenetics (1967) 0.83
Karyotyping clonal evolution in a cystic adenoma of the ovary. Lancet (1968) 0.83
Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome. Am J Hum Genet (1994) 0.83
XO and male phenotype. Am J Dis Child (1974) 0.82
Additional G-like chromosome in a malformed boy. J Med Genet (1971) 0.82
Turner syndrome patients are H-Y positive. Hum Genet (1980) 0.81
X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. Ann Genet (1977) 0.81
Mucopolysaccharidoses; autoradiographic study of sulphate-35S uptake by cultured fibroblasts. Ann Hum Genet (1968) 0.81
A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary. Hum Genet (1990) 0.81
A homozygote for a serum albumin variant of the fast type. Hum Genet (1979) 0.80
Chromosome abnormalities in tuberous sclerosis. Hum Genet (1988) 0.80
Nuclear projections and latent centromeres in primary cultures and established cell lines. Prog Clin Biol Res (1978) 0.80
The XY bivalent in human male meiosis. Ann Hum Genet (1966) 0.80
Risk for recombinants in pericentric inversions of the (p11 leads to q21) region of chromosome 18. Hum Genet (1977) 0.79
Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study. Hum Genet (1982) 0.79
Does confined placental mosaicism affect the fetus? Hum Reprod (1992) 0.79
A 45,X male with a Yp/18 translocation. Hum Genet (1986) 0.79
A homozygote for a serum albumin variant of the slow type. Humangenetik (1975) 0.78
Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings. Ann Genet (1971) 0.78
Y-dependent polypeptides identified by two-dimensional gel electrophoresis of monozygotic X0 and XY fibroblasts. Hum Genet (1984) 0.77
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. Ann Genet (1991) 0.77
Transposition of 9q34 and 22 (q11toqter) regions has a specific role in chronic myelocytic leukemia. Hum Genet (1979) 0.77
Structural abnormalities of chromosome 18. 3. Two G-18 translocations, one identified AS 22-18. Ann Genet (1972) 0.77
Analysis of complex Y chromosome aberrations using a single DNA probe (Y-367). Cytogenet Cell Genet (1989) 0.77
Correlation between testicular tissue and H-Y phenotype in intersex patients. Clin Genet (1983) 0.77
Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue. Am J Med Genet (1983) 0.77
Chromosomal aberrations in lymphocyte and fibroblast cultures of patients with the sporadic type of Kaposi sarcoma. Hum Genet (1986) 0.77
Possible localization of the genes for the Kidd blood group on an autosome involved in a reciprocal translocation. Nature (1966) 0.76
Karotype, DNA replication and origin of sex chromosomes in Anopheles atroparvus. Chromosoma (1976) 0.76
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia. J Med Genet (1987) 0.75
Extravillus dividing fetal cells at CVS: evidence of their erythroblastic origin. J Med Genet (1992) 0.75
A clonal t(9;12)(q32;q21) in cultured fibroblasts from a case of Bowen's disease. Cancer Genet Cytogenet (1989) 0.75
Chromosome abnormalities in dyskeratosis congenita. Am J Med Genet (1989) 0.75
A woman's place. Nature (1990) 0.75
[Chromosome aberrations of obstetrico-gynecological interest]. Minerva Ginecol (1974) 0.75
Mixed testicular dysgenesis and 46,XY-47,XXY mosaicism. Clin Genet (1973) 0.75
In vitro autoradiographic studies of DNA synthesis in human testis with spermatogenic arrest. Clin Genet (1974) 0.75