Published in Birth Defects Orig Artic Ser on January 01, 1977
Meckel syndrome and the prenatal diagnosis of neural tube defects. J Med Genet (1978) 0.84
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science (1981) 5.28
Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet (1974) 3.43
Inherited disorders of lysosomal metabolism. Annu Rev Biochem (1975) 3.26
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet (1978) 3.00
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun (1974) 2.83
Using social network and ethnographic tools to evaluate syphilis transmission. Sex Transm Dis (1998) 2.81
Non-inactivation of an x-chromosome locus in man. Science (1979) 2.74
Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc Natl Acad Sci U S A (1984) 2.52
Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc Natl Acad Sci U S A (1982) 2.22
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci U S A (1979) 2.13
The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet (1992) 2.02
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A (1980) 2.00
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell (1987) 1.99
Nosocomial poisoning associated with emergency department treatment of organophosphate toxicity--Georgia, 2000. J Toxicol Clin Toxicol (2001) 1.97
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet (1990) 1.94
Parathormone and perinatal calcium homeostasis. Pediatr Res (1979) 1.87
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci U S A (1989) 1.86
The cell surface antigen locus, MIC2X, escapes X-inactivation. Am J Hum Genet (1984) 1.84
Cell cycle-specific reactivation of an inactive X-chromosome locus by 5-azadeoxycytidine. Proc Natl Acad Sci U S A (1982) 1.84
Public health response for the 1996 Olympic Games. JAMA (1998) 1.80
Partner notification for syphilis: a randomized, controlled trial of three approaches. Sex Transm Dis (1997) 1.76
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Tay-Sachs screening: motives for participating and knowledge of genetics and probability. Am J Hum Genet (1976) 1.74
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
HIV prevention and the two faces of partner notification. Am J Public Health (1992) 1.64
Enzymatic basis of typical X-linked icthyosis. Lancet (1978) 1.60
Steroid sulfatase deficiency. Pediatr Res (1977) 1.56
Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics (1989) 1.54
XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) Am J Med Genet (1995) 1.48
Some influences on public participation in a genetic screening program. J Community Health (1975) 1.47
Ultrasonic evaluation of abdominal gastrointestinal tract duplication in children. Radiology (1979) 1.45
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet (1991) 1.43
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet (1992) 1.41
Prenatal diagnosis of the two-vessel cord: implications for patient counselling and obstetric management. Ultrasound Obstet Gynecol (1995) 1.41
Effect of a multidisciplinary intervention on medication compliance in elderly patients with congestive heart failure. Am J Med (1996) 1.41
Screening in preventive care for adolescents. West J Med (1987) 1.40
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population. Am J Hum Genet (1982) 1.38
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell (1988) 1.36
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell (1990) 1.36
Effect of a state law on reported bicycle helmet ownership and use. Arch Pediatr Adolesc Med (1996) 1.35
Three-dimensional structure of the vertebrate muscle M-region. J Mol Biol (1978) 1.34
Acute respiratory distress syndrome in pregnancy and the puerperium: causes, courses, and outcomes. Obstet Gynecol (2001) 1.31
Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet (1975) 1.31
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet (1981) 1.29
Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am J Hum Genet (1992) 1.25
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. Am J Hum Genet (1983) 1.22
Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts). Nat Genet (1996) 1.20
Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet (1978) 1.20
Infantile metachromatic leukodystrophy. N Engl J Med (1970) 1.20
Evolution of the pseudoautosomal boundary in Old World monkeys and great apes. Cell (1990) 1.20
Unrecognized high prevalence of Chlamydia trachomatis cervical infection in an isolated Alaskan Eskimo population. JAMA (1987) 1.18
Sex and cyberspace-virtual networks leading to high-risk sex. JAMA (2000) 1.17
Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res (1979) 1.15
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr (1983) 1.15
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J Biol Chem (1990) 1.15
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. Prog Clin Biol Res (1977) 1.13
Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations. Am J Hum Genet (1979) 1.13
Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Hum Mol Genet (1994) 1.12
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem (1984) 1.12
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci U S A (2003) 1.12
Tay-Sachs screening: social and psychological impact. Am J Hum Genet (1976) 1.11
The prevalence of cervical infection with human papillomaviruses and cervical dysplasia in Alaska Native women. J Infect Dis (1994) 1.11
Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome. Am J Hum Genet (1982) 1.10
From the CDC. Partner notification and confidentiality of the index patient: its role in preventing HIV. Sex Transm Dis (1990) 1.09
Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv Hum Genet (1985) 1.09
Frequency of reactivation and variability in expression of X-linked enzyme loci. Am J Hum Genet (1984) 1.09
Expression of the X-inactivation-associated gene XIST during spermatogenesis. Nat Genet (1992) 1.07
Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis? Am J Hum Genet (1979) 1.07
Cervical incompetence, 1980: a time for reappraisal. Clin Obstet Gynecol (1980) 1.06
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis. N Engl J Med (1971) 1.06
Adult hemoglobin synthesis by reticulocytes from the human fetus at midtrimester. Science (1971) 1.06
Tay-Sachs disease: high gene frequency in a non-Jewish population. Am J Hum Genet (1975) 1.05
Glycosylated hemoglobin as a screening test for carbohydrate intolerance in pregnancy. Am J Obstet Gynecol (1984) 1.04
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate. Clin Chim Acta (1983) 1.03
HIV seroprevalence among Atlanta's homeless. J Health Care Poor Underserved (1996) 1.03
Assignment of the gene for human DNA polymerase alpha to the X chromosome. Proc Natl Acad Sci U S A (1985) 1.02
Genetic mapping of the adenine nucleotide translocase-2 gene (Ant2) to the mouse proximal X chromosome. Genomics (1996) 1.02
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet (1993) 1.02
A population-based study of maternal and perinatal outcome in patients with gestational diabetes. Am J Obstet Gynecol (1989) 1.01
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. Am J Hum Genet (1978) 1.01
Rapid evolution of human pseudoautosomal genes and their mouse homologs. Mamm Genome (1996) 1.00
Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Somat Cell Mol Genet (1984) 1.00
Pregnancy complications among diabetic women: review 1965-1985. Obstet Gynecol Surv (1987) 1.00
An investigation of antigenic drift of neuraminidases of influenza A (H1N1) viruses. J Hyg (Lond) (1984) 0.99
Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria. Biochem Genet (1970) 0.99
High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region. Nat Genet (1996) 0.98
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Hum Mutat (1992) 0.98
A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. Ann Neurol (1986) 0.97
X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc Natl Acad Sci U S A (1991) 0.97
New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar. J Hum Evol (2006) 0.97
Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucleic Acids Res (1992) 0.97
Further studies on the antenatal detection of sickle cell anemia and other hemoglobinopathies. Adv Exp Med Biol (1972) 0.96