Published in Annu Rev Med on January 01, 1972
Prenatal diagnosis of genetic disorders. J Med Genet (1976) 0.87
Cystic fibrosis: present status and future prospects in detection of patients and carriers. Can Med Assoc J (1975) 0.75
Prenatal diagnosis of genetic disorders by amniocentesis. Calif Med (1973) 0.75
Invasive prenatal genetic testing: A Catholic healthcare provider's perspective. Linacre Q (2014) 0.75
Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53
The use of drug-resistant markers to study the hybridization of mouse fibroblasts. Exp Cell Res (1966) 5.19
Derivation of pluripotent stem cells from cultured human primordial germ cells. Proc Natl Acad Sci U S A (1998) 4.92
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
Maternal serum AFP secreening. N Engl J Med (1978) 3.17
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29
Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol (1977) 2.24
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
Chemical mutagenesis at the phosphoribosyltransferase locus in cultured human lymphoblasts. Proc Natl Acad Sci U S A (1972) 1.83
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
Duty to re-contact. Genet Med (2001) 1.80
Diabetes mellitus and aging: diminished planting efficiency of cultured human fibroblasts. Proc Natl Acad Sci U S A (1969) 1.78
Human embryonic germ cell derivatives express a broad range of developmentally distinct markers and proliferate extensively in vitro. Proc Natl Acad Sci U S A (2001) 1.67
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64
Infection of thymidine kinase-deficient BHK cells with polyoma virus. Nature (1966) 1.63
Elevated dihydrofolate reductase messenger RNA levels in methotrexate-resistant BHK cells. Cell (1976) 1.59
Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57
The periodic synthesis of thymidine kinase in mouse fibroblasts. Biochim Biophys Acta (1966) 1.57
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 1.52
The relation between DNA and protein synthesis in mouse fibroblasts. Biochim Biophys Acta (1965) 1.40
Selection of morphologically normal cell lines from polyoma-transformed BHK21/13 hamster fibroblasts. J Virol (1968) 1.31
Hybridization of hamster cells with high and low folate reductase activity. Proc Natl Acad Sci U S A (1969) 1.30
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
Purification, properties, and synthesis of dihydrofolate reductase from wild type and methotrexate-resistant hamster cells. J Biol Chem (1972) 1.26
Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25
Altered regulation of the rate of synthesis of dihydrofolate reductase in methotrexate-resistant hamster cells. J Biol Chem (1976) 1.24
Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22
IgA deficiency associated with partial deletion of chromosome 18. Am J Dis Child (1969) 1.20
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19
Effect of insulin on the conversion of glucose-C-14 to C-14-O2 by normal and diabetic fibroblasts in culture. Diabetes (1969) 1.17
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16
Regulation of 5-methyltetrahydrofolate: homocysteine methyltransferase activity by methionine, vitamin B12, and folate in cultured baby hamster kidney cells. Proc Natl Acad Sci U S A (1973) 1.15
The pregnancy at risk for a genetic disorder. N Engl J Med (1970) 1.15
Human epithelial cells cultured from urine: growth properties and keratin staining. In Vitro (1980) 1.14
Argininosuccinase activity in amniotic-fluid cells. Lancet (1970) 1.13
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA (1974) 1.10
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
Lambda-chain production in human lymphoblast-mouse fibroblast hybrids. Proc Natl Acad Sci U S A (1973) 1.06
On the difficulty of combining basic research and patient care. Am J Hum Genet (1984) 1.06
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Genetic basis for a mouse model of Down syndrome. Brain Res Bull (1986) 1.04
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
Mutagen-induced diploid human lymphoblast variants containing altered hypoxanthine guanine phosphoribosyl transferase. Somatic Cell Genet (1977) 1.02
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
Genetic screening. N Engl J Med (1972) 1.01
Urinary tract epithelial cells cultured from human urine. Int Rev Cytol Suppl (1979) 1.00
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98
Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol (1985) 0.97
Rescue of terminally differentiating teratocarcinoma cells by fusion to undifferentiated parental cells. Somatic Cell Genet (1982) 0.96
Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96
The Cri du Chat syndrome. J Ment Defic Res (1966) 0.95
Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1987) 0.95
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr (1976) 0.94
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 0.94
The need to promote careers that combine research and clinical care. J Med Educ (1986) 0.93
Some aspects of somatic cell hybridization. In Vitro (1972) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Isolation and characterization of the multiple forms of dihydrofolate reductase from methotrexate-resistant hamster cells. J Biol Chem (1974) 0.91
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Current concepts in genetics. Prenatal diagnosis of genetic disorders. N Engl J Med (1976) 0.91
Assay of hypoxanthine-guanine phosphoribosyltransferase in human fibroblast lysates: inactivation of nucleotidase. Anal Biochem (1979) 0.90
Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90
Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89
Problems in the use of cultured amniotic fluid cells for biochemical diagnoses. Birth Defects Orig Artic Ser (1971) 0.89
Attempted hybridizations with senescent human fibroblasts. J Cell Physiol (1973) 0.89
Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet (2005) 0.88
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod (1995) 0.88
Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet (1975) 0.88
Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet (1989) 0.88
Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med (1980) 0.88
Reservations concerning gene therapy. Science (1971) 0.87
Hypoxanthine-guanine phosphoribosyltransferase in human erythroid cells: posttranslational modification. Biochemistry (1982) 0.86
Analysis of HGPRT- CRM+ human lymphoblast mutants. Somatic Cell Genet (1979) 0.86
Mutagenic effect of BUdR in diploid human fibroblasts. Mutat Res (1974) 0.86
Genetics, law and obstetric practice. Br J Obstet Gynaecol (1983) 0.86
Mutagenesis to aminopterin resistance in cultured hamster cells. Exp Cell Res (1971) 0.86