Published in Prenat Diagn on February 01, 1996
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Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Noninvasive diagnosis by Doppler ultrasonography of fetal anemia due to maternal red-cell alloimmunization. Collaborative Group for Doppler Assessment of the Blood Velocity in Anemic Fetuses. N Engl J Med (2000) 4.95
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Reflections on the cognitive--learning trend in psychotherapy. Am Psychol (1977) 4.47
Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med (1978) 4.34
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Chromosome analysis of human amniotic-fluid cells. Lancet (1966) 3.22
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Cloning and expression of a human kidney cDNA for an alpha 2-adrenergic receptor subtype. Proc Natl Acad Sci U S A (1988) 2.78
Molecular cloning and expression of the cDNA for the alpha 1A-adrenergic receptor. The gene for which is located on human chromosome 5. J Biol Chem (1991) 2.35
Molecular cloning and expression of the cDNA for a novel alpha 1-adrenergic receptor subtype. J Biol Chem (1990) 2.35
Perinatal outcome of fetal complete atrioventricular block: a multicenter experience. J Am Coll Cardiol (1991) 2.33
Human intestinal H+/peptide cotransporter. Cloning, functional expression, and chromosomal localization. J Biol Chem (1995) 2.32
Anti-Ro/SSA antibodies and congenital heart block: necessary but not sufficient. Arthritis Rheum (2001) 2.23
The natural history of the inherited methylmalonic acidemias. N Engl J Med (1983) 2.12
Assessment of fetal renal reserve in low level obstructive uropathy. Lancet (1989) 2.06
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
C-terminal truncation of the retinoblastoma gene product leads to functional inactivation. Proc Natl Acad Sci U S A (1990) 1.91
Genetic analysis of benign, low-grade, and high-grade ovarian tumors. Cancer Res (1995) 1.91
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A (1986) 1.84
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med (1989) 1.79
Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet (1973) 1.75
Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood (1980) 1.73
The use of percutaneous umbilical blood sampling in immune thrombocytopenic purpura. Am J Obstet Gynecol (1988) 1.71
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest (1975) 1.70
Diagnostic fetal umbilical blood sampling in the management of isoimmunization. Am J Obstet Gynecol (1988) 1.70
Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. N Engl J Med (1976) 1.69
Characterization of a novel 350-kilodalton nuclear phosphoprotein that is specifically involved in mitotic-phase progression. Mol Cell Biol (1995) 1.67
In utero diagnosis of hemoglobinopathies. Technic for obtaining fetal blood. N Engl J Med (1974) 1.65
Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. Am J Hum Genet (1986) 1.64
Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. Cytogenetics (1966) 1.62
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci U S A (1975) 1.62
Identification of translocation chromosomes by quinacrine fluorescence. Am J Dis Child (1972) 1.62
Ultrasound in the diagnosis of congenital anomalies. Am J Obstet Gynecol (1979) 1.59
Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels. N Engl J Med (1987) 1.58
Universal cervical-length screening to prevent preterm birth: a cost-effectiveness analysis. Ultrasound Obstet Gynecol (2011) 1.57
Expression of H-Y antigen in human males with two Y chromosomes. N Engl J Med (1975) 1.56
Molecular isolation and characterization of an expressed gene from the human Y chromosome. Hum Mol Genet (1992) 1.56
Increased frequency of heterozygotes for alpha1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Nature (1976) 1.56
Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families. Am J Hum Genet (1967) 1.53
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells. Hum Genet (1976) 1.52
Urinary screening tests for fetal Down syndrome: I. Fresh beta-core fragment. Prenat Diagn (1999) 1.50
Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line. J Biol Chem (1996) 1.50
Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41) Prenat Diagn (1991) 1.49
Fetal blood drawing. Lancet (1975) 1.49
Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum Genet (1977) 1.46
Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. N Engl J Med (1977) 1.45
Fetal echocardiographic screening for congenital heart disease: the importance of the four-chamber view. Am J Obstet Gynecol (1987) 1.43
Fetal haemorrhagic lesions after chorionic villous sampling. Lancet (1992) 1.43
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
Trisomy 8 mosaicism syndrome. Pediatrics (1975) 1.40
Cloning, molecular characterization, and chromosomal assignment of a gene encoding a second D1 dopamine receptor subtype: differential expression pattern in rat brain compared with the D1A receptor. Proc Natl Acad Sci U S A (1991) 1.40
Nicked free beta-subunit of human chorionic gonadotropin: a potential new marker for Down syndrome screening. Am J Obstet Gynecol (1996) 1.40
Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. Proc Natl Acad Sci U S A (1975) 1.39
Elevated maternal serum alpha-fetoprotein concentration and fetal chromosomal abnormalities. Obstet Gynecol (1990) 1.39
Normal nuchal thickness in the midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results. Am J Obstet Gynecol (1995) 1.39
Is the fetal brain-sparing effect a risk factor for the development of intraventricular hemorrhage in the preterm infant? Ultrasound Obstet Gynecol (1996) 1.39
Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization. Prenat Diagn (2000) 1.39
Maternal serum uric acid levels in preeclamptic women with multiple gestations. Am J Perinatol (1997) 1.39
Immunohistochemical localization of inducible nitric oxide synthase on human fetal amnion in intra-amniotic infection. Am J Obstet Gynecol (1998) 1.38
Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells. Science (1971) 1.37
Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization. J Biol Chem (1999) 1.35
Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 1.35
ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol (2013) 1.35
Human luteinizing hormone-releasing hormone gene (LHRH) is located on short arm of chromosome 8 (region 8p11.2----p21). Somat Cell Mol Genet (1986) 1.33
Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am J Hum Genet (1992) 1.32
A thyroid hormone receptor coactivator negatively regulated by the retinoblastoma protein. Proc Natl Acad Sci U S A (1997) 1.31
Prenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient. J Thorac Cardiovasc Surg (2001) 1.31
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet (2007) 1.31
Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. Proc Natl Acad Sci U S A (1986) 1.30
Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik (1971) 1.28
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. Biochem Biophys Res Commun (1971) 1.28
Chromosomal mapping of genes involved in growth control. Cold Spring Harb Symp Quant Biol (1986) 1.28
7q deletion syndrome (7q32 leads to 7qter). Clin Genet (1977) 1.27
Arachidonic acid prevents hyperglycemia-associated yolk sac damage and embryopathy. Am J Obstet Gynecol (1986) 1.26
The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-). J Pediatr (1970) 1.25
Fetal cystic hygroma. Cause and natural history. N Engl J Med (1983) 1.23
Relative efficacy of self-reward, self-punishment, and self-monitoring techniques for weight loss. J Consult Clin Psychol (1973) 1.22
Distinction between chromosome 4 and chromosome 5 by replication pattern and length of long and short arms. Am J Hum Genet (1967) 1.22
Benign methylmalonic aciduria. N Engl J Med (1984) 1.22
Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography. Stain Technol (1972) 1.21
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Am J Hum Genet (1992) 1.20
Human c-fos oncogene mapped within chromosomal region 14q21----q31. Proc Natl Acad Sci U S A (1984) 1.19
Chromosome 3 duplication q/deletion p syndrome. Pediatrics (1978) 1.17
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet (1994) 1.16
Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. J Neurochem (1998) 1.15
Structure, function, and genomic organization of human Na(+)-dependent high-affinity dicarboxylate transporter. Am J Physiol Cell Physiol (2000) 1.15
Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum Mol Genet (1995) 1.15
Electron microscopy of human skin fibroblasts in situ during growth in culture. Exp Cell Res (1975) 1.14
Management outcome and follow-up of fetal tachycardia. J Am Coll Cardiol (1994) 1.14
The Interregional Cytogenetic Register System (ICRS). Birth Defects Orig Artic Ser (1978) 1.13
Outcome of prenatally detected cardiac malformations. Am J Cardiol (1992) 1.12
Prenatal screening for Down's syndrome--a search for the family's values. N Engl J Med (1999) 1.11