Published in Birth Defects Orig Artic Ser on January 01, 1978
de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet (1993) 3.02
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature (1984) 2.07
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med (1989) 1.79
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
X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am J Med Genet (1985) 1.30
Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet (1993) 1.30
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet (1993) 1.11
Late first-trimester invasive prenatal diagnosis: results of an international randomized trial. Obstet Gynecol (2004) 1.01
Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am J Med Genet (1985) 1.00
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am J Med Genet (1991) 0.97
First-trimester maternal serum alpha-fetoprotein and chorionic gonadotropin in aneuploid pregnancies. Prenat Diagn (1991) 0.97
Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet (1993) 0.95
The polymorphic Fc gamma receptor II gene maps to human chromosome 1q. Immunogenetics (1989) 0.95
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. Am J Med Genet (1997) 0.93
Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol (1990) 0.92
Diagnostic use of meternal serum alpha-fetoprotein levels. Obstet Gynecol (1976) 0.89
Prenatal diagnosis using fetal cells isolated from maternal peripheral blood: a review. Clin Obstet Gynecol (1996) 0.88
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein. Am J Hum Genet (1983) 0.86
Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus (1990) 0.86
A simple technique for obtaining high quality chromosome preparations from chorionic villus samples using FdU synchronization. Prenat Diagn (1987) 0.85
Localization of major histocompatibility complex class I and II mRNA in human first-trimester chorionic villi by in situ hybridization. J Exp Med (1992) 0.84
Chromosome errors as a cause of spontaneous abortion: the relative importance of maternal age and obstetric history. Fertil Steril (1993) 0.83
Two abnormalities of hexosaminidase A in clinically normal individuals. Am J Hum Genet (1986) 0.83
Autoradiographic studies of the effects of inhibitors of protein synthesis on RNA synthesis in HeLa cells. Exp Cell Res (1968) 0.83
Chromosomes and cancer: current aspects. Semin Oncol (1978) 0.83
Cyclic variations in protein, DNA and ribosomal RNA synthesis in 6C3HED lymphoma cell cultures due to essential amino acid depletion. Biochim Biophys Acta (1970) 0.82
Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid. Am J Obstet Gynecol (1979) 0.82
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome. N Engl J Med (1985) 0.81
Cytokine production in first trimester chorionic villi: detection of mRNAs and protein products in situ. Cell Immunol (1993) 0.80
Subclinical autoimmune disease and unexplained abortion. Am J Obstet Gynecol (1984) 0.80
Prenatal diagnostic techniques. Chorionic villus sampling. Surv Ophthalmol (1985) 0.79
Isolation of decidual lymphocytes from chorionic villus samples: phenotypic analysis and growth in vitro. Am J Reprod Immunol (1995) 0.79
A (4;7) translocation, 46 chromosomes. Repository identification No. GM-1220. Cytogenet Cell Genet (1977) 0.78
Repeated pregnancy loss. Am J Med Genet (1983) 0.78
Phenotypic analysis of adhesion molecules in first-trimester decidual tissue from chorion villus samples. Am J Reprod Immunol (1997) 0.78
Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome. Prenat Diagn (1992) 0.78
Risks of chorion villus sampling. Baillieres Clin Obstet Gynaecol (1987) 0.78
First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique. Ultrasound Obstet Gynecol (2002) 0.77
Selective reduction of multifetal pregnancies. Lancet (1990) 0.77
Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome. Obstet Gynecol (1981) 0.77
Chromosome aberrations--red herring or red flag? J Occup Med (1973) 0.77
[Late first-trimester invasive prenatal diagnosis--secondary publication. An international randomized trial]. Ugeskr Laeger (2005) 0.77
Fetal cells in maternal blood: NIFTY clinical trial interim analysis. DM-STAT. NICHD fetal cell study (NIFTY) group. Prenat Diagn (1999) 0.76
Inhibition by puromycin of incorporation of tritiated uridine into nucleolar and cytoplasmic ribonucleic acids. Nature (1966) 0.76
Letter: Maternal serum-alpha-fetoprotein and anencephaly. Lancet (1974) 0.76
de Lange syndrome. Am J Med Genet (1992) 0.75
Observation of limb defects after CVS. Prenat Diagn (1996) 0.75
Contribution of aminoacyl-transfer ribonucleic and to protein label in autoradiographic experiments. J Histochem Cytochem (1967) 0.75
Medical genetics: an overview and update. Ear Nose Throat J (1983) 0.75
Chemotherapy in ovarian malignancy: tumor sensitivity testing. Obstet Gynecol (1966) 0.75
Prenatal diagnosis of neurolipidoses. Ann Clin Lab Sci (1982) 0.75
Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling. Prenat Diagn (1986) 0.75
A (4;7) translocation, 46 chromosomes. Repository identification No. GM-773. Cytogenet Cell Genet (1977) 0.75
A (1;7) translocation, balanced, from a subject associated with repeated abortion. Respository identification No. GM-1356. Cytogenet Cell Genet (1978) 0.75
Safety of chorionic villus biopsy. Lancet (1986) 0.75
Diagnosing attention-deficit hyperactivity disorder and learning disabilities with chemically dependent adolescents. J Psychoactive Drugs (1989) 0.75
Guidelines for amniocentesis and genetic counselling. Pa Med (1982) 0.75
Prenatal genetic counseling. Prim Care (1976) 0.75
Autosomal dominant inheritance of annular pancreas. Am J Med Genet (1978) 0.75
Genetic principles for the ophthalmologist. Trans Pa Acad Ophthalmol Otolaryngol (1974) 0.75
First trimester diagnosis of Lesch-Nyhan syndrome: applications to other disorders of purine metabolism. Prenat Diagn (1985) 0.75
Self-control of psychotic productions in schizophrenics. Arch Gen Psychiatry (1984) 0.75
Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia. Cancer Genet Cytogenet (1988) 0.75
The impaired nurse: a management issue. Nurs Econ (1984) 0.75
The effect of the elapsed time between blood draw and processing on the recovery of fetal cells from maternal blood. J Soc Gynecol Investig (2004) 0.75
A division of substance abuse medicine in a teaching hospital. J Med Educ (1986) 0.75
Community screening for Tay-Sachs disease. Am Fam Physician (1976) 0.75
The karyotype of the Australian long-nosed bandicoot (Perameles nasuta). Cytogenetics (1968) 0.75
Letter: Use of demographic data in screening for Tay-Sachs disease. J Pediatr (1976) 0.75
Homogeneous group therapy for acutely psychotic schizophrenic inpatients. Hosp Community Psychiatry (1983) 0.75
Chorionic biopsy. N Engl J Med (1984) 0.75
Commentary: prenatal diagnosis: the magnitude of dysgenic effects is small, the human benefits, great. Birth (1990) 0.75
Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. Clin Genet (1998) 0.75
Risks of amniocentesis. Lancet (1980) 0.75
Letter: Screening for carriers of Tay-Sachs disease. JAMA (1974) 0.75
Computerized cytogenetic data for prenatal diagnosis. Prog Clin Biol Res (1985) 0.75
Voice abnormalities in short stature syndromes. Ear Nose Throat J (1995) 0.75
Early prenatal diagnosis of mucolipidosis IV. Am J Med Genet (1987) 0.75
Heterozygote detection for autosomal recessive genetic diseases. Community aspects of the Tay-Sachs experience. Clin Pediatr (Phila) (1974) 0.75
International Registry of Abnormal Karyotypes. A repository of chromosomal variants and anomalies in man: current status. Clin Genet (1982) 0.75
Cell surface antigen expression of first trimester chorionic villus samples. Am J Reprod Immunol (1990) 0.75
Establishment of a cytogenetic service for chorionic villus samples: the split specimen approach. Prenat Diagn (1990) 0.75
First-trimester diagnosis of fetal genetic disorders. Hosp Pract (Off Ed) (1985) 0.75
Extra structurally abnormal chromosomes (ESACs)--presentation of 10 new cases. Med Sci Monit (2001) 0.75
Preparation of metaphase spreads from chorionic villus samples. Curr Protoc Hum Genet (2001) 0.75
Suspected genetic disease. Otolaryngol Clin North Am (1986) 0.75