Published in Science on October 06, 1978
Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings. J Med Genet (1980) 1.56
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet (2010) 1.21
The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies. J Med Genet (1983) 0.94
A family of rapidly evolving genes from the sex reversal critical region in Xp21. Mamm Genome (1995) 0.90
Gonadal dimorphism explained as a dosage effect of a locus on the sex chromosomes, the gonad-differentiation locus (GDL). Am J Hum Genet (1988) 0.87
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocrinol Metab (2007) 0.78
Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis. J Med Genet (1982) 0.76
Segregation of an X ring chromosome in two generations. J Med Genet (1980) 0.75
Antenatal prediction of sex. Br Med J (1979) 0.75
The role of sex chromosomes in mammalian germ cell differentiation: can the germ cells carrying X and Y chromosomes differentiate into fertile oocytes? Asian J Androl (2015) 0.75
The Bloom's syndrome gene product is homologous to RecQ helicases. Cell (1995) 9.91
Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature (2001) 6.70
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci U S A (1974) 6.51
The BCL-6 proto-oncogene controls germinal-centre formation and Th2-type inflammation. Nat Genet (1997) 5.55
The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. Nat Genet (1996) 4.59
A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet (1999) 4.14
An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol (1984) 4.10
Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA. Proc Natl Acad Sci U S A (1969) 3.97
Alterations of a zinc finger-encoding gene, BCL-6, in diffuse large-cell lymphoma. Science (1993) 3.89
B cell lymphoma-associated chromosomal translocation involves candidate oncogene lyt-10, homologous to NF-kappa B p50. Cell (1991) 3.84
The absence of a relation between the periconceptional use of vitamins and neural-tube defects. National Institute of Child Health and Human Development Neural Tube Defects Study Group. N Engl J Med (1989) 3.82
The overlap syndrome of asthma and COPD: what are its features and how important is it? Thorax (2009) 3.30
Heterogeneity of airway inflammation in persistent asthma : evidence of neutrophilic inflammation and increased sputum interleukin-8. Chest (2001) 3.19
BCL-6 protein is expressed in germinal-center B cells. Blood (1995) 3.18
BCL-6, a POZ/zinc-finger protein, is a sequence-specific transcriptional repressor. Proc Natl Acad Sci U S A (1996) 3.10
Two human c-onc genes are located on the long arm of chromosome 8. Proc Natl Acad Sci U S A (1982) 3.02
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet (1969) 2.87
In situ localization of human fibronectin (FN) genes to chromosome regions 2p14----p16, 2q34----q36, and 11q12.1----q13.5 in germ line cells, but to chromosome 2 sites only in somatic cells. Cytogenet Cell Genet (1986) 2.83
BCL-6 mutations in normal germinal center B cells: evidence of somatic hypermutation acting outside Ig loci. Proc Natl Acad Sci U S A (1998) 2.76
Sex ratio associated with timing of insemination and length of the follicular phase in planned and unplanned pregnancies during use of natural family planning. Hum Reprod (1998) 2.67
Teratoma with malignant transformation: diverse malignant histologies arising in men with germ cell tumors. J Urol (1998) 2.44
Rearrangements of the BCL6 gene in diffuse large cell non-Hodgkin's lymphoma. Blood (1994) 2.38
Are obese women at higher risk for producing malformed offspring? Am J Obstet Gynecol (1994) 2.31
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci U S A (1989) 2.22
Moderate caffeine use and the risk of spontaneous abortion and intrauterine growth retardation. JAMA (1993) 2.20
Isochromosome of the short arm of chromosome 12: clinically useful markers for male germ cell tumors. J Natl Cancer Inst (1989) 2.19
Laparoscopic hysterectomy--is there a benefit? N Engl J Med (1996) 2.14
Frequent somatic hypermutation of the 5' noncoding region of the BCL6 gene in B-cell lymphoma. Proc Natl Acad Sci U S A (1995) 2.13
Down syndrome is not increased in offspring of natural family planning users (case control analysis) Am J Med Genet (1995) 2.13
Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet (1987) 2.10
Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet (1975) 2.08
A retarded rate of DNA chain growth in Bloom's syndrome. Proc Natl Acad Sci U S A (1975) 2.06
Chromosomal translocations cause deregulated BCL6 expression by promoter substitution in B cell lymphoma. EMBO J (1995) 1.94
Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma. Nat Genet (1997) 1.94
Neutrophil degranulation and cell lysis is associated with clinical severity in virus-induced asthma. Eur Respir J (2002) 1.92
Gene amplification in gastric and esophageal adenocarcinomas. Cancer Res (1990) 1.90
Predictors of maternal mortality and near-miss maternal morbidity. J Perinatol (2007) 1.89
Characterization of nonrandom chromosomal gains and losses in multiple myeloma by comparative genomic hybridization. Blood (1998) 1.85
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma (1974) 1.82
Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. Am J Hum Genet (1973) 1.77
Soluble RAGE is deficient in neutrophilic asthma and COPD. Eur Respir J (2011) 1.76
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn (2002) 1.74
Human monocarboxylate transporter 2 (MCT2) is a high affinity pyruvate transporter. J Biol Chem (1998) 1.71
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am J Hum Genet (1977) 1.67
The influence of pregnancy and oral contraceptive steroids on the concentration of plasma proteins. Studies with a quantitative immunodiffusion method. Am J Obstet Gynecol (1970) 1.65
Molecular evidence that homologous recombination occurs in proliferating human somatic cells. Proc Natl Acad Sci U S A (1990) 1.65
t(3;22)(q27;q11): a novel translocation associated with diffuse non-Hodgkin's lymphoma. Blood (1989) 1.62
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. Hum Genet (1985) 1.61
Chromosomal aberrations in soft tissue tumors. Relevance to diagnosis, classification, and molecular mechanisms. Am J Pathol (1994) 1.60
Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol (1980) 1.60
Chromosomal and gene amplification in diffuse large B-cell lymphoma. Blood (1998) 1.60
X-autosome translocations: a review. Birth Defects Orig Artic Ser (1978) 1.57
IRTA1 and IRTA2, novel immunoglobulin superfamily receptors expressed in B cells and involved in chromosome 1q21 abnormalities in B cell malignancy. Immunity (2001) 1.56
Genetic analysis as an aid in diagnosis for patients with midline carcinomas of uncertain histologies. J Natl Cancer Inst (1991) 1.55
An abnormal profile of DNA replication intermediates in Bloom's syndrome. Cancer Res (1990) 1.54
Altered DNA ligase I activity in Bloom's syndrome cells. Nature (1987) 1.54
Current concepts: the low-birth-weight infant--evolution of a changing outlook. N Engl J Med (1979) 1.53
The Wsh and Ph mutations affect the c-kit expression profile: c-kit misexpression in embryogenesis impairs melanogenesis in Wsh and Ph mutant mice. Proc Natl Acad Sci U S A (1995) 1.52
Methods to encourage the use of antenatal corticosteroid therapy for fetal maturation: a randomized controlled trial. JAMA (1999) 1.51
Deletions involving two distinct regions of 6q in B-cell non-Hodgkin lymphoma. Blood (1992) 1.51
Different inflammatory phenotypes in adults and children with acute asthma. Eur Respir J (2011) 1.50
Lack of relation of increased malformation rates in infants of diabetic mothers to glycemic control during organogenesis. N Engl J Med (1988) 1.50
Risk of neural tube defects in relation to maternal fertility and fertility drug use. Lancet (1990) 1.49
Shared HLA antigens and reproductive performance among Hutterites. Am J Hum Genet (1983) 1.47
Localization of c-ras oncogene family on human germ-line chromosomes. Proc Natl Acad Sci U S A (1983) 1.46
Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases. Clin Genet (1977) 1.45
The Roberts syndrome. Clin Genet (1974) 1.45
Neonatal respiratory distress following elective delivery. A preventable disease? Am J Obstet Gynecol (1976) 1.44
Caring for our future: a report by the expert panel on the content of prenatal care. Obstet Gynecol (1991) 1.44
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43
Metabolic control and progression of retinopathy. The Diabetes in Early Pregnancy Study. National Institute of Child Health and Human Development Diabetes in Early Pregnancy Study. Diabetes Care (1995) 1.42
Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program. Am J Obstet Gynecol (1985) 1.42
Changing trends of neonatal and postneonatal deaths in very-low-birth-weight infants. Am J Obstet Gynecol (1980) 1.41
Pregnancy and the timing of intercourse. N Engl J Med (1995) 1.41
Cloning of bcl-6, the locus involved in chromosome translocations affecting band 3q27 in B-cell lymphoma. Cancer Res (1993) 1.41
p53 mutations are associated with histologic transformation of follicular lymphoma. Blood (1993) 1.40
Risk evaluation of CVS. Prenat Diagn (1993) 1.40
Vaginal cuff closure at abdominal hysterectomy: comparing sutures with absorbable staples. Obstet Gynecol (1991) 1.39
Low maternal serum alpha-fetoprotein and perinatal outcome. Am J Obstet Gynecol (1987) 1.39
Allelotype analysis of cervical carcinoma. Cancer Res (1994) 1.38
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
Risk of recurrent spontaneous abortion for pregnancies discovered in the fifth week of gestation. Lancet (1994) 1.37
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet (1995) 1.35
REL proto-oncogene is frequently amplified in extranodal diffuse large cell lymphoma. Blood (1996) 1.35
Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 1.35
A recurring translocation, t(11;22)(p13;q11.2), characterizes intra-abdominal desmoplastic small round-cell tumors. Cancer Genet Cytogenet (1993) 1.35
Cytogenetic analysis of 363 consecutively ascertained diffuse large B-cell lymphomas. Genes Chromosomes Cancer (1999) 1.35
Maternal serum screening for fetal Down syndrome in women less than 35 years of age using alpha-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study. Obstet Gynecol (1992) 1.34
Bloom's syndrome: evidence for an increased mutation frequency in vivo. Science (1983) 1.34
Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth. Ann Intern Med (1966) 1.33
Molecular genetics of Bloom's syndrome. Hum Mol Genet (1996) 1.33
Interferon-inducible gene maps to a chromosomal band associated with a (4;11) translocation in acute leukemia cells. Proc Natl Acad Sci U S A (1987) 1.33
Heritability and molecular genetic studies of endometriosis. Hum Reprod Update (2000) 1.30
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing. Lancet (1979) 1.30
Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum Genet (1979) 1.29
Prenatal diagnosis by use of fetal cells isolated from maternal blood. Am J Obstet Gynecol (1995) 1.29
Cyclophosphamide in the treatment of idiopathic lipoid nephrosis. J Pediatr (1967) 1.28