Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.

PubWeight™: 2.01‹?› | Rank: Top 2%

🔗 View Article (PMID 11030304)

Published in Lancet on September 30, 2000

Authors

H Saito, A Sekizawa, T Morimoto, M Suzuki, T Yanaihara

Articles citing this

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A (2008) 1.64

MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci U S A (2004) 1.12

Fetal DNA detection in maternal plasma throughout gestation. Hum Genet (2005) 1.09

Measurement of mRNA of trophoblast-specific genes in cellular and plasma components of maternal blood. J Med Genet (2006) 0.90

Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer (2017) 0.88

Evaluation of bidirectional transfer of plasma DNA through placenta. Hum Genet (2003) 0.88

Tracking fetal development through molecular analysis of maternal biofluids. Biochim Biophys Acta (2012) 0.87

Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc Natl Acad Sci U S A (2016) 0.85

Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects. J Clin Med (2014) 0.85

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. J Assist Reprod Genet (2010) 0.85

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease. Prenat Diagn (2012) 0.85

Prenatal identification of fetal genetic traits. Lancet (2001) 0.83

Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood. Obstet Gynecol Sci (2013) 0.82

Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA. Cold Spring Harb Perspect Med (2015) 0.82

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med (2012) 0.82

Skeletal dysplasias. Clin Perinatol (2015) 0.80

Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. BMC Med Genet (2016) 0.78

Placental mRNA in maternal plasma: prospects for fetal screening. Proc Natl Acad Sci U S A (2003) 0.78

Free DNA--new potential analyte in clinical laboratory diagnostics? Biochem Med (Zagreb) (2012) 0.77

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. Mol Vis (2008) 0.77

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing. PLoS One (2015) 0.77

Cell free fetal DNA testing in maternal blood of Romanian pregnant women. Iran J Reprod Med (2015) 0.76

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin. PLoS One (2016) 0.76

Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma. PLoS One (2016) 0.75

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies. J Clin Med (2014) 0.75

10. Circulating Nucleic Acids as Diagnostic Tool. EJIFCC (2008) 0.75

Rapid and non invasive prenatal diagnosis. Balkan J Med Genet (2012) 0.75

SRY sequence in maternal plasma: Implications for non-invasive prenatal diagnosis: First report from India. Indian J Hum Genet (2012) 0.75

Non-Invasive Screening Tools for Down's Syndrome: A Review. Diagnostics (Basel) (2013) 0.75

Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis. EPMA J (2011) 0.75

Articles by these authors

The transcriptional landscape of the mammalian genome. Science (2005) 37.63

Antisense transcription in the mammalian transcriptome. Science (2005) 15.69

A two-component system that regulates an osmosensing MAP kinase cascade in yeast. Nature (1994) 9.77

Mechanisms for the incorporation of proteins in membranes and organelles. J Cell Biol (1982) 9.67

Nitric oxide: an endogenous modulator of leukocyte adhesion. Proc Natl Acad Sci U S A (1991) 8.04

Peroral endoscopic myotomy (POEM) for esophageal achalasia. Endoscopy (2010) 7.10

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci U S A (1994) 6.96

Yeast HOG1 MAP kinase cascade is regulated by a multistep phosphorelay mechanism in the SLN1-YPD1-SSK1 "two-component" osmosensor. Cell (1996) 6.87

Endomembrane trafficking of ras: the CAAX motif targets proteins to the ER and Golgi. Cell (1999) 6.42

Enzymatic methods for the determination of small quantities of isomeric chondroitin sulfates. J Biol Chem (1968) 6.28

Peptidyl-prolyl cis-trans isomerase is the cyclosporin A-binding protein cyclophilin. Nature (1989) 5.86

Purification and properties of bacterial chondroitinases and chondrosulfatases. J Biol Chem (1968) 5.66

A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells. Cell (1991) 5.65

Activation of yeast PBS2 MAPKK by MAPKKKs or by binding of an SH3-containing osmosensor. Science (1995) 5.49

Complete primary structure of a heterodimeric T-cell receptor deduced from cDNA sequences. Nature (1984) 5.19

Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood (2001) 5.17

Osmotic activation of the HOG MAPK pathway via Ste11p MAPKKK: scaffold role of Pbs2p MAPKK. Science (1997) 5.02

Developmental regulation of T-cell receptor gene expression. Nature (1985) 4.53

A standard reference frame for the description of nucleic acid base-pair geometry. J Mol Biol (2001) 4.29

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion. Neurology (2004) 4.24

Production of mice deficient in genes for interleukin (IL)-1alpha, IL-1beta, IL-1alpha/beta, and IL-1 receptor antagonist shows that IL-1beta is crucial in turpentine-induced fever development and glucocorticoid secretion. J Exp Med (1998) 4.17

The PILATUS 1M detector. J Synchrotron Radiat (2006) 4.16

Cyclosporine induces cancer progression by a cell-autonomous mechanism. Nature (1999) 3.93

A family of stress-inducible GADD45-like proteins mediate activation of the stress-responsive MTK1/MEKK4 MAPKKK. Cell (1998) 3.89

Regulated nucleo/cytoplasmic exchange of HOG1 MAPK requires the importin beta homologs NMD5 and XPO1. EMBO J (1998) 3.87

Initiation of the DNA replication of bacteriophage lambda in Escherichia coli K12. J Mol Biol (1977) 3.70

Cross-contamination potential with dental equipment. Lancet (1992) 3.55

Structure, organization, and somatic rearrangement of T cell gamma genes. Cell (1985) 3.49

A third rearranged and expressed gene in a clone of cytotoxic T lymphocytes. Nature (1984) 3.46

Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood (1999) 3.46

Clinical characteristics of clear cell carcinoma of the ovary: a distinct histologic type with poor prognosis and resistance to platinum-based chemotherapy. Cancer (2000) 3.46

Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. Cell (2001) 3.44

A new form of amyloid protein associated with chronic hemodialysis was identified as beta 2-microglobulin. Biochem Biophys Res Commun (1985) 3.40

Activation of the c-myc gene by translocation: a model for translational control. Proc Natl Acad Sci U S A (1983) 3.36

Bacterial genomic reorganization upon DNA replication. Science (2001) 3.25

A family of receptor-linked protein tyrosine phosphatases in humans and Drosophila. Proc Natl Acad Sci U S A (1989) 3.18

Alymphoplasia is caused by a point mutation in the mouse gene encoding Nf-kappa b-inducing kinase. Nat Genet (1999) 3.17

Differential usage of three exons generates at least five different mRNAs encoding human leukocyte common antigens. J Exp Med (1987) 3.14

Apoptosis induction by antisense oligonucleotides against miR-17-5p and miR-20a in lung cancers overexpressing miR-17-92. Oncogene (2007) 3.11

A novel transgenic technique that allows specific marking of the neural crest cell lineage in mice. Dev Biol (1999) 3.11

Complete primary structures of the E beta chain and gene of the mouse major histocompatibility complex. Proc Natl Acad Sci U S A (1983) 3.09

Development of an MRI-compatible needle insertion manipulator for stereotactic neurosurgery. J Image Guid Surg (1995) 3.07

Visualization of neurogenesis in the central nervous system using nestin promoter-GFP transgenic mice. Neuroreport (2000) 3.04

Distinct functional roles of the two intracellular phosphatase like domains of the receptor-linked protein tyrosine phosphatases LCA and LAR. EMBO J (1990) 2.94

Nucleotide sequence of the tobacco mosaic virus (tomato strain) genome and comparison with the common strain genome. J Biochem (1984) 2.93

Activation of a translocated human c-myc gene by an enhancer in the immunoglobulin heavy-chain locus. Nature (1984) 2.93

ERBIN: a basolateral PDZ protein that interacts with the mammalian ERBB2/HER2 receptor. Nat Cell Biol (2000) 2.90

Identification of the transcriptional suppressor sof-1 as an alteration in the spo0A protein. J Bacteriol (1985) 2.89

Determination of aminosugar linkages in glycolipids by methylation. Aminosugar linkages of ceramide pentasaccharides of rabbit erythrocytes and of Forssman antigen. Arch Biochem Biophys (1973) 2.87

Organization and expression of the dnaJ and dnaK genes of Escherichia coli K12. Mol Gen Genet (1978) 2.81

Increased insulin sensitivity and hypoglycaemia in mice lacking the p85 alpha subunit of phosphoinositide 3-kinase. Nat Genet (1999) 2.81

Heterothallic Behavior of a Homothallic Strain in Saccharomyces Yeast. Genetics (1958) 2.81

Antitumor activity of 1 M tegafur-0.4 M 5-chloro-2,4-dihydroxypyridine-1 M potassium oxonate (S-1) against human colon carcinoma orthotopically implanted into nude rats. Cancer Res (1996) 2.81

Structural diversity and evolution of human receptor-like protein tyrosine phosphatases. EMBO J (1990) 2.81

Activation of the yeast SSK2 MAP kinase kinase kinase by the SSK1 two-component response regulator. EMBO J (1998) 2.74

A new member of the immunoglobulin superfamily that has a cytoplasmic region homologous to the leukocyte common antigen. J Exp Med (1988) 2.74

Tandem-duplicated Flt3 constitutively activates STAT5 and MAP kinase and introduces autonomous cell growth in IL-3-dependent cell lines. Oncogene (2000) 2.73

Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis. Nature (2002) 2.71

Coding visual images of objects in the inferotemporal cortex of the macaque monkey. J Neurophysiol (1991) 2.70

Regulation of the Saccharomyces cerevisiae HOG1 mitogen-activated protein kinase by the PTP2 and PTP3 protein tyrosine phosphatases. Mol Cell Biol (1997) 2.65

A co-operative numerical analysis of rapidly growing mycobacteria. J Gen Microbiol (1972) 2.63

Limited diversity of the rearranged T-cell gamma gene. Nature (1985) 2.58

Molecular cloning and expression of a member of the aquaporin family with permeability to glycerol and urea in addition to water expressed at the basolateral membrane of kidney collecting duct cells. Proc Natl Acad Sci U S A (1994) 2.54

Cloning and nucleotide sequence of phoP, the regulatory gene for alkaline phosphatase and phosphodiesterase in Bacillus subtilis. J Bacteriol (1987) 2.52

A novel mode of DNA recognition by a beta-sheet revealed by the solution structure of the GCC-box binding domain in complex with DNA. EMBO J (1998) 2.48

High efficiency transformation of maize (Zea mays L.) mediated by Agrobacterium tumefaciens. Nat Biotechnol (1996) 2.43

Regulation of tissue-specific alternative splicing: exon-specific cis-elements govern the splicing of leukocyte common antigen pre-mRNA. EMBO J (1989) 2.41

Spectrodensitometric determination of trichothecene mycotoxins with 4-(p-nitrobenzyl)pyridine on silica gel thin-layer chromatograms. J Chromatogr (1979) 2.38

Modulation of the Ca2 permeable cation channel TRPV4 by cytochrome P450 epoxygenases in vascular endothelium. Circ Res (2005) 2.38

Unusual organization and diversity of T-cell receptor alpha-chain genes. Nature (1985) 2.36

Mutually exclusive expression of odorant receptor transgenes. Nat Neurosci (2000) 2.36

Internal tandem duplication of the FLT3 gene is a novel modality of elongation mutation which causes constitutive activation of the product. Leukemia (1998) 2.35

Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet (1999) 2.32

Physiological role of silent receptors of atrial natriuretic factor. Science (1987) 2.31

Accelerated apoptosis of lymphocytes by augmented induction of Bax in SSI-1 (STAT-induced STAT inhibitor-1) deficient mice. Proc Natl Acad Sci U S A (1998) 2.31

Genetic analysis of two genes, dnaJ and dnaK, necessary for Escherichia coli and bacteriophage lambda DNA replication. Mol Gen Genet (1978) 2.30

Nucleotide sequence of the primary origin of bacteriophage T7 DNA replication: relationship to adjacent genes and regulatory elements. Proc Natl Acad Sci U S A (1980) 2.30

Two-component signal transducers and MAPK cascades. Trends Biochem Sci (1997) 2.29

Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science (1999) 2.25

Induction of microRNAs, mir-155, mir-222, mir-424 and mir-503, promotes monocytic differentiation through combinatorial regulation. Leukemia (2009) 2.24

'SPKK' motifs prefer to bind to DNA at A/T-rich sites. EMBO J (1989) 2.24

Biophysical characteristics of HIMAC clinical irradiation system for heavy-ion radiation therapy. Int J Radiat Oncol Biol Phys (1999) 2.19

Evaluation of topical pharyngeal anesthesia for upper endoscopy including factors associated with patient tolerance. Gastrointest Endosc (2001) 2.19

Inhibition of GABAA synaptic responses by brain-derived neurotrophic factor (BDNF) in rat hippocampus. J Neurosci (1997) 2.18

Mapping of genes determining nonpermissiveness and host-specific restriction to bacteriophages in Bacillus subtilis Marburg. Mol Gen Genet (1979) 2.17

Polymorphism in RANTES chemokine promoter affects HIV-1 disease progression. Proc Natl Acad Sci U S A (1999) 2.17

Protease nexin-II, a potent antichymotrypsin, shows identity to amyloid beta-protein precursor. Nature (1989) 2.17

Activation of the Keap1/Nrf2 pathway for neuroprotection by electrophilic [correction of electrophillic] phase II inducers. Proc Natl Acad Sci U S A (2006) 2.15

Catheter ablation in patients with multiple and unstable ventricular tachycardias after myocardial infarction: short ablation lines guided by reentry circuit isthmuses and sinus rhythm mapping. Circulation (2001) 2.12

Protein phosphatase 2Calpha inhibits the human stress-responsive p38 and JNK MAPK pathways. EMBO J (1998) 2.11

Yeast Cdc42 GTPase and Ste20 PAK-like kinase regulate Sho1-dependent activation of the Hog1 MAPK pathway. EMBO J (2000) 2.10

Proline-directed and non-proline-directed phosphorylation of PHF-tau. J Biol Chem (1995) 2.09

Basic fibroblast growth factor, a protein devoid of secretory signal sequence, is released by cells via a pathway independent of the endoplasmic reticulum-Golgi complex. J Cell Physiol (1992) 2.08

Expression levels of DNA methyltransferase genes do not correlate with p15INK4B gene methylation in myelodysplastic syndromes. Leukemia (2003) 2.06

Analysis of local and wide-field movements in the superior temporal visual areas of the macaque monkey. J Neurosci (1986) 2.03

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet (2000) 2.02

Nucleotide sequence of the Bacillus subtilis phoR gene. J Bacteriol (1988) 2.02

LST-2, a human liver-specific organic anion transporter, determines methotrexate sensitivity in gastrointestinal cancers. Gastroenterology (2001) 2.02

Mutations in a protein tyrosine phosphatase gene (PTP2) and a protein serine/threonine phosphatase gene (PTC1) cause a synthetic growth defect in Saccharomyces cerevisiae. Mol Cell Biol (1993) 2.01