Published in Lancet on October 30, 1971
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
Amplified dihydrofolate reductase genes are localized to a homogeneously staining region of a single chromosome in a methotrexate-resistant Chinese hamster ovary cell line. Proc Natl Acad Sci U S A (1978) 4.60
Chromosomal location of the genes for human immunoglobulin heavy chains. Proc Natl Acad Sci U S A (1979) 4.52
Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions. EMBO J (1990) 4.49
Gamma ray-induced loss of expression of HLA and glyoxalase I alleles in lymphoblastoid cells. Proc Natl Acad Sci U S A (1980) 4.35
Production of antibodies against influenza virus by somatic cell hybrids between mouse myeloma and primed spleen cells. Proc Natl Acad Sci U S A (1977) 4.30
Transcriptional activation of the translocated c-myc oncogene in burkitt lymphoma. Proc Natl Acad Sci U S A (1983) 3.46
Differential expression of the normal and of the translocated human c-myc oncogenes in B cells. Proc Natl Acad Sci U S A (1983) 3.43
Translocation of immunoglobulin VH genes in Burkitt lymphoma. Proc Natl Acad Sci U S A (1982) 3.30
Terminal differentiation of human liposarcoma cells induced by ligands for peroxisome proliferator-activated receptor gamma and the retinoid X receptor. Proc Natl Acad Sci U S A (1997) 3.22
Mental retardation associated with "balanced" chromosome rearrangements. Am J Hum Genet (1977) 3.06
Methotrexate-resistant Chinese hamster ovary cells have amplified a 135-kilobase-pair region that includes the dihydrofolate reductase gene. Proc Natl Acad Sci U S A (1981) 2.83
Assignment of the T-antigen gene of simian virus 40 to human chromosome C-7. Proc Natl Acad Sci U S A (1973) 2.63
Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2. Proc Natl Acad Sci U S A (1985) 2.53
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
Establishment of cell clones with different metastatic potential from the metastatic hepatocellular carcinoma cell line MHCC97. World J Gastroenterol (2001) 2.32
Chromosomal location of human kappa and lambda immunoglobulin light chain constant region genes. J Exp Med (1982) 2.30
Single-copy and amplified CAD genes in Syrian hamster chromosomes localized by a highly sensitive method for in situ hybridization. Mol Cell Biol (1982) 2.21
The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13). Proc Natl Acad Sci U S A (1986) 2.18
Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet (1981) 2.10
Rearrangement and amplification of c-abl sequences in the human chronic myelogenous leukemia cell line K-562. Proc Natl Acad Sci U S A (1983) 2.08
New human hepatocellular carcinoma (HCC) cell line with highly metastatic potential (MHCC97) and its expressions of the factors associated with metastasis. Br J Cancer (1999) 2.05
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature (2011) 2.03
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet (1997) 1.99
A case of trisomy 9. J Med Genet (1973) 1.99
Coamplification and coexpression of human tissue-type plasminogen activator and murine dihydrofolate reductase sequences in Chinese hamster ovary cells. Mol Cell Biol (1985) 1.97
Loss of mouse chromosomes in somatic cell hybrids between HT-1080 human fibrosarcoma cells and mouse peritioneal macrophages. Proc Natl Acad Sci U S A (1976) 1.96
Evidence for different origin of sex chromosomes in snakes, birds, and mammals and step-wise differentiation of snake sex chromosomes. Proc Natl Acad Sci U S A (2006) 1.95
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
Somatic cell hybrids between mouse peritoneal macrophages and SV40-transformed human cells. I. Positive control of the transformed phenotype by the human chromosome 7 carrying the SV40 genome. J Exp Med (1974) 1.91
Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). Am J Hum Genet (1975) 1.87
Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. Mol Cell Biol (1995) 1.85
Trisomy of chromosome 15 in spontaneous leukemia of AKR mice. Proc Natl Acad Sci U S A (1975) 1.84
Human regulatory gene for inducible tyrosine aminotransferase in rat-human hybrids. Proc Natl Acad Sci U S A (1973) 1.84
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet (1990) 1.83
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet (1988) 1.83
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. J Med Genet (1975) 1.81
Chromosomal mapping of the simian sarcoma virus onc gene analogue in human cells. Proc Natl Acad Sci U S A (1982) 1.72
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem (2008) 1.71
Direct reprogramming of Sertoli cells into multipotent neural stem cells by defined factors. Cell Res (2011) 1.67
Amplification of DNA sequences in human multidrug-resistant KB carcinoma cells. Proc Natl Acad Sci U S A (1985) 1.66
Karyotypic, virologic, and immunologic analyses of two continuous lymphocyte lines established from New Zealand black mice: possible relationship of chromosomal mosaicism to autoimmunity. Proc Natl Acad Sci U S A (1972) 1.65
Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum (2008) 1.64
Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16. J Med Genet (1978) 1.61
Suppression of production of mouse 28S ribosomal RNA in mouse-human hybrids segregating mouse chromosomes. Proc Natl Acad Sci U S A (1977) 1.60
Asbestos-associated chromosomal changes in human mesothelial cells. Proc Natl Acad Sci U S A (1985) 1.60
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet (1976) 1.57
Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet (1974) 1.57
Establishment of the DU.528 human lymphohemopoietic stem cell line. J Exp Med (1985) 1.56
Chromosome abnormalities in pupils attending ESN/M schools. Arch Dis Child (1986) 1.55
UC 729-6, a human lymphoblastoid B-cell line useful for generating antibody-secreting human-human hybridomas. Proc Natl Acad Sci U S A (1983) 1.54
Aldehyde dehydrogenase activity as a functional marker for lung cancer. Chem Biol Interact (2008) 1.52
Spectral karyotyping analysis of human and mouse chromosomes. Nat Protoc (2006) 1.52
Assignment of the integration site for simian virus 40 to chromosome 17 in GM54VA, a human cell line transformed by simian virus 40. Proc Natl Acad Sci U S A (1977) 1.51
Amplified C lambda and c-abl genes are on the same marker chromosome in K562 leukemia cells. Proc Natl Acad Sci U S A (1983) 1.48
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet (1993) 1.47
Conversion of a stem cell leukemia from a T-lymphoid to a myeloid phenotype induced by the adenosine deaminase inhibitor 2'-deoxycoformycin. Proc Natl Acad Sci U S A (1984) 1.46
No requirement for V(D)J recombination in p53-deficient thymic lymphoma. Mol Cell Biol (1998) 1.45
Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet (1989) 1.43
Somatic cell hybrids between mouse peritoneal macrophages and simian-virus-40-transformed human cells: II. Presence of human chromosome 7 carrying simin virus 40 genome in cells of tumors induced by hybrid cells. Proc Natl Acad Sci U S A (1975) 1.42
Chimeric mice derived from human-mouse hybrid cells. Proc Natl Acad Sci U S A (1978) 1.40
The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature. J Med Genet (1976) 1.38
Maintenance of an extrachromosomal plasmid vector in mouse embryonic stem cells. Proc Natl Acad Sci U S A (1995) 1.36
Prader-Willi syndrome is caused by disruption of the SNRPN gene. Am J Hum Genet (1999) 1.36
Parental HLA compatibility, fetal wastage and neural tube defects: evidence for a T/t-like locus in humans. Am J Hum Genet (1984) 1.36
Assignment of the structural gene for human beta glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule. Am J Hum Genet (1976) 1.36
Location of the genes for human heavy chain immunoglobulin to chromosome 6. Proc Natl Acad Sci U S A (1978) 1.35
Evolution of chromosomal regions containing transfected and amplified dihydrofolate reductase sequences. Mol Cell Biol (1983) 1.35
Gene dosage and gene expression in the HLA region: evidence from deletion variants. Proc Natl Acad Sci U S A (1982) 1.34
Establishment of clonal human placental cells synthesizing human choriogonadotropin. Proc Natl Acad Sci U S A (1978) 1.33
Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. Am J Hum Genet (1974) 1.32
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet (1999) 1.31
Tetraploidy in a liveborn infant. J Med Genet (1976) 1.31
Uniparental propagation of mitochondrial DNA in mouse-human cell hybrids. Proc Natl Acad Sci U S A (1980) 1.28
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
DNA content analysis by flow cytometry and cytogenetic analysis in mycosis fungoides and Sézary syndrome. J Clin Invest (1980) 1.26
A large pericentric inversion of human chromosome 8. Am J Hum Genet (1976) 1.25
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet (1994) 1.25
Differences in human X isochromosomes. J Med Genet (1975) 1.24
Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet (2007) 1.23
The use of new staining techniques for human chromosome identification. J Med Genet (1972) 1.23
Coordinate amplification of metallothionein I and II genes in cadmium-resistant Chinese hamster cells: implications for mechanisms regulating metallothionein gene expression. Mol Cell Biol (1985) 1.23
DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22. Proc Natl Acad Sci U S A (1984) 1.22
Partial trisomy 7p associated with familial 7p;22q translocation. J Med Genet (1977) 1.21
Role of human chromosome 11 in determining surface antigenic phenotype of normal and malignant cells. Somatic cell genetic analysis of eight antigens, including putative human Thy-1. J Exp Med (1985) 1.19
Retinoblastoma and D-chromosome deletions. Am J Hum Genet (1973) 1.18
Antenatal diagnosis of Patau's syndrome (trisomy 13) including a detailed pathological study of the fetus. J Med Genet (1973) 1.18
Double isotype production by a neoplastic B cell line. II. Allelically excluded production of mu and gamma 1 heavy chains without CH gene rearrangement. J Exp Med (1986) 1.17
Establishment of two new scirrhous gastric cancer cell lines: analysis of factors associated with disseminated metastasis. Br J Cancer (1995) 1.16
Amplification of a cloned Chinese hamster dihydrofolate reductase gene after transfer into a dihydrofolate reductase-deficient cell line. Mol Cell Biol (1983) 1.16
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet (1991) 1.15
Embryonic stem cell-like cells established by culture of adult ovarian cells in mice. Fertil Steril (2010) 1.15
A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility. J Med Genet (1982) 1.15
Complement-mediated antiserum cytotoxic reactions to human chromosome 7 coded antigen(s): immunoselection of rearranged human chromosome 7 in human-mouse somatic cell hybrids. J Exp Med (1977) 1.15
Recombination map of the common shrew, Sorex araneus (Eulipotyphla, Mammalia). Genetics (2008) 1.14
Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21. J Med Genet (1973) 1.14
High resolution of a small pericentric inversion of chromosome 11. J Med Genet (1980) 1.14
Characterizing the chromosomes of the Australian model marsupial Macropus eugenii (tammar wallaby). Chromosome Res (2005) 1.14
Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla. Chromosome Res (2008) 1.14
The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma (1972) 3.63
Trisomy 9 associated with an enlarged 9qh segment in a liveborn. Hum Genet (1976) 1.57
Induction of chromosome changes in Chinese hamster cells by exposure to asbestos fibres. Nature (1975) 1.56
Chromosome abnormalities in pupils attending ESN/M schools. Arch Dis Child (1986) 1.55
Deleted X chromosomes in patients with the fragile X syndrome. J Med Genet (1984) 1.54
High resolution studies on the pattern of induced exchanges in the human karyotype. Chromosoma (1973) 1.38
Improvement of trypsin method for banding chromosomes. Lancet (1973) 1.24
A familial polymorphic variant of chromosome 5. J Med Genet (1980) 1.12
Paracentric inversions in man. J Med Genet (1984) 1.04
Rearrangements involving four chromosomes in a child with congenital abnormalities. Cytogenet Cell Genet (1978) 0.99
Human chromosome banding. Lancet (1972) 0.98
Interstitial deletion of chromosome 7 detected in three unrelated patients. Hum Genet (1978) 0.94
The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J Med Genet (1985) 0.92
Pericentric inversion (13) with two different recombinants in the same family. J Med Genet (1980) 0.87
A family with an inherited translocation involving the no. 4/no. 21 chromosomes. J Med Genet (1975) 0.87
Chromosome abnormalities involving band 13q14 in hematologic malignancies. Cancer Genet Cytogenet (1987) 0.86
Phenotypically normal individuals with an inversion (X) (p22q13) and the recombinant (X), dup q. Ann Hum Genet (1981) 0.80
Noninvolvement of the human X chromosome in X-ray induced exchanges. Cytogenet Cell Genet (1973) 0.79
Variation in trypsin banding at different stages of contraction in human chromosomes and the definition, by measurement, of the "average" karyotype. Humangenetik (1975) 0.78
The differential distribution of X-ray induced chromosome lesions in trypsin-banded preparations from human subjects. Humangenetik (1975) 0.77
A further case of a 22;22 Robertsonian translocation associated with recurrent abortions. Hum Genet (1978) 0.76
Acute transformation of a myeloproliferative state in sideroblastic anaemia with abnormal karyotype. J Med Genet (1982) 0.75
A (4;21) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-98. Cytogenet Cell Genet (1975) 0.75
Recombinant chromosome 13 with a duplication of a short arm. Repository identification No. GM-1570. Cytogenet Cell Genet (1979) 0.75
Karyotyping amniotic fluids from patients with high serum alpha-fetoprotein. Lancet (1981) 0.75
Two cases of trisomy 21 and one XXY case with atypical clinical features. Hum Genet (1977) 0.75
Silver staining of nucleolar organizer regions in the domestic cat, Felis catus. Cytogenet Cell Genet (1979) 0.75