Charles Epstein

Q: What Schools Are Affiliated With Charles Epstein

Charles Epstein is affiliated with the following schools: University of California, Berkeley, University of Guelph, Stanford University, University of California, San Francisco, Harvard University

Charles Epstein 's AcademicInfluence.com Rankings

Charles Epstein

Biology

#2155

World Rank

#3458

Historical Rank

#977

USA Rank

Genetics

#147

World Rank

#186

Historical Rank

#89

USA Rank

biology Degrees

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Biology

Charles Epstein 's Degrees

PhD Genetics University of California, Berkeley
Doctorate Medicine University of California, San Francisco

Why Is Charles Epstein Influential?

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According to Wikipedia, Charles Joseph Epstein was an American geneticist who was severely injured in 1993 when he became a victim of a mail bomb attack by the Unabomber. He was a researcher at the University of California, San Francisco and the Buck Institute for Age Research.

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Charles Epstein 's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) (2348)
Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase (1995) (1780)
Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype. (1970) (1010)
Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. (1966) (804)
Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging. (2003) (731)
CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life (2005) (628)
Attenuation of focal cerebral ischemic injury in transgenic mice overexpressing CuZn superoxide dismutase. (1991) (609)
Mitochondrial disease in superoxide dismutase 2 mutant mice. (1999) (598)
Primary afferent tachykinins are required to experience moderate to intense pain (1998) (581)
Human Copper‐Zinc Superoxide Dismutase Transgenic Mice Are Highly Resistant to Reperfusion Injury After Focal Cerebral Ischemia (1994) (571)
Severely Impaired Urinary Concentrating Ability in Transgenic Mice Lacking Aquaporin-1 Water Channels* (1998) (550)
Defective Secretion of Saliva in Transgenic Mice Lacking Aquaporin-5 Water Channels* (1999) (531)
Increased App Expression in a Mouse Model of Down's Syndrome Disrupts NGF Transport and Causes Cholinergic Neuron Degeneration (2006) (496)
Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome. (1987) (478)
Increased Oxidative Damage Is Correlated to Altered Mitochondrial Function in Heterozygous Manganese Superoxide Dismutase Knockout Mice* (1998) (457)
Hippocampal Long-Term Potentiation Suppressed by Increased Inhibition in the Ts65Dn Mouse, a Genetic Model of Down Syndrome (2004) (446)
Generation and phenotype of a transgenic knockout mouse lacking the mercurial-insensitive water channel aquaporin-4. (1997) (441)
Slit1 and Slit2 Cooperate to Prevent Premature Midline Crossing of Retinal Axons in the Mouse Visual System (2002) (439)
Reduction of CuZn-Superoxide Dismutase Activity Exacerbates Neuronal Cell Injury and Edema Formation after Transient Focal Cerebral Ischemia (1997) (437)
Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome. (1996) (433)
Incorporation of 3H-uridine and 3H-uracil into RNA: a simple technique for the detection of mycoplasma contamination of cultured cells. (1974) (433)
Altered surfactant homeostasis and alveolar type II cell morphology in mice lacking surfactant protein D. (1998) (417)
Absence of CuZn superoxide dismutase leads to elevated oxidative stress and acceleration of age-dependent skeletal muscle atrophy. (2006) (414)
Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities. (1998) (381)
Nephrogenic diabetes insipidus in mice lacking aquaporin-3 water channels. (2000) (379)
Acceleration of reactivation of reduced bovine pancreatic ribonuclease by a microsomal system from rat liver. (1963) (372)
Overexpression of SOD1 in Transgenic Rats Protects Vulnerable Neurons Against Ischemic Damage After Global Cerebral Ischemia and Reperfusion (1998) (337)
Manganese Superoxide Dismutase Mediates the Early Release of Mitochondrial Cytochrome C and Subsequent DNA Fragmentation after Permanent Focal Cerebral Ischemia in Mice (1999) (332)
Failed retrograde transport of NGF in a mouse model of Down's syndrome: Reversal of cholinergic neurodegenerative phenotypes following NGF infusion (2001) (330)
The overexpression of major antioxidant enzymes does not extend the lifespan of mice (2008) (325)
A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic properties. (2004) (308)
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. (2001) (298)
Synaptic structural abnormalities in the Ts65Dn mouse model of down syndrome (2004) (296)
Rapid Communication: Attenuation of Methamphetamine‐Induced Neurotoxicity in Copper/Zinc Superoxide Dismutase Transgenic Mice (1994) (272)
The Genetic Control of Tertiary Protein Structure: Studies With Model Systems (1963) (265)
Prenatal genetic diagnosis in 3000 amniocenteses. (1979) (260)
Hereditary macrothrombocytopathia, nephritis and deafness. (1972) (242)
The in vivo gene expression signature of oxidative stress. (2008) (229)
App Gene Dosage Modulates Endosomal Abnormalities of Alzheimer's Disease in a Segmental Trisomy 16 Mouse Model of Down Syndrome (2003) (226)
Ubiquitous overexpression of CuZn superoxide dismutase does not extend life span in mice. (2000) (221)
Knockout mice heterozygous for Sod2 show alterations in cardiac mitochondrial function and apoptosis. (2001) (212)
Both X chromosomes function before visible X-chromosome inactivation in female mouse embryos (1978) (212)
Alterations in mitochondrial function, hydrogen peroxide release and oxidative damage in mouse hind-limb skeletal muscle during aging (2006) (206)
Cold‐induced brain edema and infarction are reduced in transgenic mice overexpressing CuZn‐Superoxide dismutase (1991) (202)
A convenient method of preparing polyacrylamide gels for liquid scintillation spectrometry. (1968) (198)
Urea-selective Concentrating Defect in Transgenic Mice Lacking Urea Transporter UT-B* (2002) (198)
Brain Injury after Perinatal Hypoxia-Ischemia Is Exacerbated in Copper/Zinc Superoxide Dismutase Transgenic Mice (1996) (195)
A unique set of polypeptides is induced by γ interferon in addition to those induced in common with α and β interferons (1983) (194)
Mice deficient in both Mn superoxide dismutase and glutathione peroxidase-1 have increased oxidative damage and a greater incidence of pathology but no reduction in longevity. (2009) (191)
Increased synaptic depression in the Ts65Dn mouse, a model for mental retardation in Down syndrome (1999) (189)
Synaptic and cognitive abnormalities in mouse models of down syndrome: Exploring genotype‐phenotype relationships (2007) (188)
Inborn errors of development : the molecular basis of clinical disorders of morphogenesis (2016) (188)
Genetic Dissection of Region Associated with Behavioral Abnormalities in Mouse Models for Down Syndrome (2000) (186)
Overexpression of Mn superoxide dismutase does not increase life span in mice. (2009) (186)
Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase. (2006) (184)
Cell size, nuclear content, and the development of polyploidy in the Mammalian liver. (1967) (183)
Copper/zinc superoxide dismutase transgenic brain accumulates hydrogen peroxide after perinatal hypoxia ischemia (1998) (180)
Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. (1997) (179)
3‐Nitropropionic Acid Neurotoxicity Is Attenuated in Copper/Zinc Superoxide Dismutase Transgenic Mice (1995) (173)
Attenuation of acute and chronic damage following traumatic brain injury in copper, zinc-superoxide dismutase transgenic mice. (1996) (171)
Protocols to establish genotype-phenotype correlations in Down syndrome. (1991) (161)
Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes (2004) (160)
Characterization of the antioxidant status of the heterozygous manganese superoxide dismutase knockout mouse. (1999) (160)
Mammalian Oocytes: X Chromosome Activity (1969) (153)
Manganese Superoxide Dismutase Signals Matrix Metalloproteinase Expression via H2O2-dependent ERK1/2 Activation* (2001) (153)
The consequences of chromosome imbalance. (2005) (151)
Neonatal Mortality in an Aquaporin-2 Knock-in Mouse Model of Recessive Nephrogenic Diabetes Insipidus* (2001) (149)
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. (2004) (147)
The Consequences of Chromosome Imbalance: The Consequences of Chromosome Imbalance (1986) (147)
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. (2008) (140)
Amelioration of vasospasm after subarachnoid hemorrhage in transgenic mice overexpressing CuZn-superoxide dismutase. (1999) (139)
Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21. (1977) (139)
The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models (1986) (138)
Overexpressing Cu/Zn superoxide dismutase enhances survival of transplanted neurons in a rat model of Parkinson's disease (1995) (138)
Evidence for expression of the paternal genome in the two-cell mouse embryo (1981) (137)
Overexpression of CuZn-superoxide dismutase reduces hippocampal injury after global ischemia in transgenic mice. (1997) (137)
Biochemical studies of growing mouse oocytes: preparation of oocytes and analysis of glucose-6-phosphate dehydrogenase and lactate dehydrogenase activities. (1975) (134)
The challenge of Down syndrome. (2006) (133)
Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome. (2002) (131)
X–chromosome inactivation during differentiation of female teratocarcinoma stem cells in vitro (1978) (130)
Amino acid uptake and protein synthesis in preimplantation mouse embryos (1973) (130)
Human Chromosome 21 Dosage: Effect on the Expression of the Interferon Induced Antiviral State (1974) (130)
Mouse Trisomy 16: An Animal Model of Human Trisomy 21 (Down Syndrome) a (1985) (129)
Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice. (2001) (128)
Autoradiographic evidence for methamphetamine-induced striatal dopaminergic loss in mouse brain: attenuation in CuZn-superoxide dismutase transgenic mice (1996) (123)
Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stress. (2004) (123)
Expression of the Mammalian X Chromosome before and after Fertilization (1972) (121)
Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndrome (2005) (121)
A mechanism-based antioxidant approach for the reduction of skin carcinogenesis. (2005) (118)
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. (2006) (117)
The mouse lethal nonagouti (a(x)) mutation deletes the S‐adenosylhomocysteine hydrolase (Ahcy) gene. (1994) (116)
Brain infarction is not reduced in SOD-1 transgenic mice after a permanent focal cerebral ischemia. (1993) (115)
Genes contributing to prion pathogenesis. (2008) (114)
Mice with a Partial Deficiency of Manganese Superoxide Dismutase Show Increased Vulnerability to the Mitochondrial Toxins Malonate, 3-Nitropropionic Acid, and MPTP (2001) (114)
Localization fo the gene AVG for the antiviral expression of immune and classical interferon to the distal portion of the long arm of chromosome 21. (1976) (113)
PURIFICATION AND PROPERTIES OF A MICROSOMAL ENZYME SYSTEM CATALYZING THE REACTIVATION OF REDUCED RIBONUCLEASE AND LYSOZYME. (1964) (113)
The effects of inhibitors of RNA synthesis (alpha-amanitin and actinomycin D) on preimplantation mouse embryogenesis. (1973) (112)
Transgenic mice and knockout mutants in the study of oxidative stress in brain injury. (1995) (112)
Transgenic copper/zinc superoxide dismutase modulates susceptibility to type I diabetes. (1994) (111)
The Use of Transgenic and Mutant Mice to Study Oxygen Free Radical Metabolism (1999) (111)
Pleiotropic effects of the mouse lethal yellow (Ay) mutation explained by deletion of a maternally expressed gene and the simultaneous production of agouti fusion RNAs. (1994) (111)
Reduced neurotoxicity in transgenic mice overexpressing human copper-zinc-superoxide dismutase. (1990) (105)
Superoxide Dismutase, Catalase, and Glutathione Peroxidase Activities in Copper/Zinc‐Superoxide Dismutase Transgenic Mice (1992) (103)
Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. (1977) (100)
Mouse trisomy 16 as an animal model of human trisomy 21 (Down syndrome): production of viable trisomy 16 diploid mouse chimeras. (1984) (99)
Multiple congenital anomalies in a fetus exposed to 5-fluorouracil during the first trimester. (1980) (97)
Changes in Expression of Antioxidant Enzymes Affect Cell-Mediated LDL Oxidation and Oxidized LDL-Induced Apoptosis in Mouse Aortic Cells (2001) (96)
Manganese superoxide dismutase deficiency enhances cell turnover via tumor promoter-induced alterations in AP-1 and p53-mediated pathways in a skin cancer model (2002) (95)
Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. (2010) (95)
Methamphetamine-induced serotonin neurotoxicity is mediated by superoxide radicals (1995) (94)
CuZn-superoxide dismutase (CuZnSOD) transgenic mice show resistance to the lethal effects of methylenedioxyamphetamine (MDA) and of methylenedioxymethamphetamine (MDMA) (1994) (93)
Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SOD-1) are linked in mouse and man and map to mouse chromosome 16. (1980) (93)
Replication Rate and Lifespan of Cultured Fibroblasts in Down's Syndrome 1 (1972) (93)
Gene expression and macromolecular synthesis during preimplantation embryonic development. (1975) (92)
Decreased Pulmonary Radiation Resistance of Manganese Superoxide Dismutase (MnSOD)-Deficient Mice is Corrected by Human Manganese Superoxide Dismutase-Plasmid/Liposome (SOD2-PL) Intratracheal Gene Therapy (2000) (91)
Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. (1994) (90)
Inborn Errors of Development (2008) (90)
Cell surface changes during preimplantation development in the mouse. (1973) (90)
Effects of Nitric Oxide Synthase Inhibition on Brain Infarction in SOD-1-Transgenic Mice following Transient Focal Cerebral Ischemia (1996) (89)
Iron‐responsive degradation of iron‐regulatory protein 1 does not require the Fe–S cluster (2006) (89)
Viral transformation of rat myoblasts: effects on fusion and surface properties. (1976) (89)
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome. (2005) (88)
DNA Fragmentation and Prolonged Expression of c-fos, c-jun, and hsp70 in Kainic Acid-Induced Neuronal Cell Death in Transgenic Mice Overexpressing Human CuZn-Superoxide Dismutase (1997) (87)
Absence of Mitochondrial Superoxide Dismutase Results in a Murine Hemolytic Anemia Responsive to Therapy with a Catalytic Antioxidant (2001) (85)
Midbrain dopaminergic neuronal degeneration in a transgenic mouse model of familial amyotrophic lateral sclerosis (1997) (83)
GENETIC CONTROL OF VERY EARLY MAMMALIAN DEVELOPMENT (1981) (82)
Modulation of P-selectin expression in the postischemic intestinal microvasculature. (1997) (82)
AN APPROACH TO THE PROBLEM OF CONFORMATIONAL ISOZYMES (1968) (82)
Partial deficiency of manganese superoxide dismutase exacerbates a transgenic mouse model of amyotrophic lateral sclerosis (2000) (81)
Superoxide radicals mediate the biochemical effects of methylenedioxymethamphetamine (MDMA): Evidence from using CuZn‐superoxide dismutase transgenic mice (1995) (81)
Expression of H-Y antigen on preimplantation mouse embryos. (2008) (81)
The reversible reduction of disulfide bonds in trypsin and ribonuclease coupled to carboxymethyl cellulose. (1962) (80)
Strain-dependent high-level expression of a transgene for manganese superoxide dismutase is associated with growth retardation and decreased fertility. (2001) (80)
Susceptibility of heterozygous MnSOD gene-knockout mice to oxygen toxicity. (1998) (79)
Overexpression of Copper/Zinc- Superoxide Dismutase Protects from Kanamycin-Induced Hearing Loss (2001) (79)
Role of mitochondrial superoxide dismutase in contraction-induced generation of reactive oxygen species in skeletal muscle extracellular space. (2004) (79)
Role of superoxide in hemorrhagic shock-induced P-selectin expression. (2000) (78)
Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema. (2002) (77)
Spectral studies on the denaturation of myoglobin. (1968) (76)
Familial acrocephalosyndactyly (Pfeiffer syndrome). (1972) (76)
Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone. (1972) (75)
Developmental interrelationships of uridine uptake. Nucleotide formation and incorporation into RNA by early mammalian embryos. (1971) (75)
Preimplantation lethality of monosomy for mouse chromosome 19 (1979) (75)
Manipulation of myogenesis in vitro: Reversible inhibition by DMSO (1979) (74)
Fatty streak formation in fat-fed mice expressing human copper-zinc superoxide dismutase. (1997) (74)
Overexpression of CuZnSOD in coronary vascular cells attenuates myocardial ischemia/reperfusion injury. (2000) (73)
Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(1716)65Dn and mouseChromosome 12 (2005) (72)
Effects of Wild‐Type and Mutated Copper/Zinc Superoxide Dismutase on Neuronal Survival and l‐DOPA‐Induced Toxicity in Postnatal Midbrain Culture (1997) (70)
Lipid Peroxidation and Superoxide Dismutase-1 and Glutathione Peroxidase Activities in Trisomy 16 Fetal Mice and Human Trisomy 21 Fibroblasts (1987) (70)
Comparative Gene Mapping of Human Chromosome 21 and Mouse Chromosome 16 a (1985) (69)
Nerve growth factor reverses neuronal atrophy in a Down syndrome model of age‐related neurodegeneration (1993) (68)
Effect of SOD1 overexpression on age- and noise-related hearing loss. (2003) (68)
Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome. (1992) (68)
Oligosyndactyly: A lethal mutation in the mouse that results in mitotic arrest very early in development (1984) (67)
Chapter 6 Role of superoxide dismutase in ischemic brain injury: reduction of edema and infarction in transgenic mice following focal cerebral ischemia (1993) (66)
Pluripotent embryonic stem cell lines can be derived from tw5/tw5 blastocysts (1982) (66)
Prolonged Expression of hsp70 mRNA following Transient Focal Cerebral Ischemia in Transgenic Mice Overexpressing CuZn-Superoxide Dismutase (1994) (65)
The Neurobiology of Down syndrome (1986) (61)
Direct evidence that the gene product of the human chromosome 21 locus, IFRC, is the interferon-alpha receptor. (1982) (61)
Overexpression of copper/zinc superoxide dismutase: A novel cause of murine muscular dystrophy (1998) (60)
Ichthyosis and neutral lipid storage disease. (1985) (60)
In utero diagnosis of Niemann-Pick disease. (1971) (59)
In utero diagnosis of globoid cell leukodystrophy (Krabb's disease). (1971) (58)
T-lymphocyte function and sensitivity to interferon in trisomy 21. (1980) (56)
Regulation of E-selectin expression in postischemic intestinal microvasculature. (2000) (56)
The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus. (1989) (55)
Increased lipid peroxidation in Down’s syndrome mouse models (2009) (55)
Reduced mitochondrial manganese-superoxide dismutase activity exacerbates glutamate toxicity in cultured mouse cortical neurons (1998) (55)
Nuclear Ploidy in Mammalian Parenchymal Liver Cells (1967) (54)
Mouse model of neurodegeneration: atrophy of basal forebrain cholinergic neurons in trisomy 16 transplants. (1992) (54)
Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity. (2002) (54)
Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(171)65Dn and mouse chromosome 12. (2005) (54)
Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology. (1972) (54)
Transgenic mice with increased copper/zinc-superoxide dismutase activity are resistant to hepatic leukostasis and capillary no-reflow after gut ischemia/reperfusion. (1998) (53)
Electrophysiological properties of cultured dorsal root ganglion and spinal cord neurons of normal and trisomy 16 fetal mice. (1987) (53)
Edema formation exacerbates neurological and histological outcomes after focal cerebral ischemia in CuZn-superoxide dismutase gene knockout mutant mice. (1997) (53)
Mouse monosomies and trisomies as experimental systems for studying mammalian aneuploidy (1985) (53)
Intrauterine diagnosis of genetic defects: results, problems, and follow-up of one hundred cases in a prenatal genetic detection center. (1974) (52)
Mycoplasma Contamination of Cultured Amniotic Fluid Cells: Potential Hazard to Prenatal Chromosomal Diagnosis (1974) (51)
Goblet cell-specific expression mediated by the MUC2 mucin gene promoter in the intestine of transgenic mice. (1999) (51)
Central nervous system expression of HIV-1 Gp120 activates the hypothalamic-pituitary-adrenal axis: evidence for involvement of NMDA receptors and nitric oxide synthase. (1996) (50)
Relationship of resistance to oxygen free radicals to CuZn‐superoxide dismutase activity in transgenic, transfected, and trisomic cells (1992) (50)
Increased Superoxide Dismutase Activity Improves Survival of Cultured Postnatal Midbrain Neurons (1996) (48)
Electrophoretic analysis of proteins synthesized by preimplantation mouse embryos. (1974) (46)
Enhanced sensitivity of trisomy 21 monocytes to the maturation-inhibiting effect ot interferon. (1980) (45)
Phosphoribosyltransferase activity during early mammalian development. (1970) (45)
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? (1977) (44)
Mechanisms of the effects of aneuploidy in mammals. (1988) (44)
Precursor pools and RNA synthesis in preimplantation mouse embryos. (1971) (44)
Transgenic mice with high levels of superoxide dismutase activity are protected from the neurotoxic effects of 2'-NH2-MPTP on serotonergic and noradrenergic nerve terminals. (1996) (44)
The early lethality of autosomal monosomy in the mouse. (1985) (44)
Enhanced expression of mitochondrial superoxide dismutase leads to prolonged in vivo cell cycle progression and up-regulation of mitochondrial thioredoxin. (2010) (43)
Attenuation of glutamate-induced neuronal swelling and toxicity in transgenic mice overexpressing human CuZn-superoxide dismutase. (1990) (43)
Mild and severe Hunter syndrome (MPS II) within the same sibships (1977) (42)
Medical genetics in the genomic medicine of the 21st century. (2006) (42)
Werner syndrome: entering the helicase era. (1996) (42)
The mouse homolog of the human amyloid beta protein (AD-AP) gene is located on the distal end of mouse chromosome 16: further extension of the homology between human chromosome 21 and mouse chromosome 16. (1987) (42)
Synthesis of interferon-induced polypeptides in normal and chromosome 21-aneuploid human fibroblasts: relationship to relative sensitivities in antiviral assays. (1980) (41)
Down syndrome: toward a molecular definition of the phenotype. (2005) (41)
Expression of c-fos mRNA after a mild focal cerebral ischemia in SOD-1 transgenic mice (1994) (40)
Voltage-activated sodium conductances in cultured normal and trisomy 16 dorsal root ganglion neurons from the fetal mouse. (1988) (40)
Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. (2000) (39)
Attenuation of age-dependent oxidative damage to DNA and protein in brainstem of Tg Cu/Zn SOD mice (1998) (39)
Stem cell deficiencies and thymic abnormalities in fetal mouse trisomy 16 (1985) (39)
Down's syndrome: Critical genes in a critical region (2006) (38)
Protein synthetic patterns in teratocarcinoma stem cells and mouse embryos at early stages of development. (1978) (38)
Prenatal detection of genetic disorders. (1972) (38)
Pathogenesis of one variant of sea-blue histiocytosis. (1975) (38)
Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II. (1972) (38)
SOD‐1 Transgenic Mice as a Model for Studies of Neuroprotection in Stroke and Brain Trauma a (1994) (37)
Characterization of concanavalin A precipitated proteins from early mouse embryos: a 2-dimensional gel electrophoresis study. (1981) (36)
The effect of trisomy 21 on the patterns of polypeptide synthesis in human fibroblasts. (1979) (36)
Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome (1979) (36)
Role of superoxide dismutase in ischemic brain injury: reduction of edema and infarction in transgenic mice following focal cerebral ischemia. (1993) (36)
Detection of mycoplasma contamination in cultured human fibroblasts. Comparison of biochemical and microbiological techniques. (1973) (36)
Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice. (2005) (36)
Molecular markers for the agouti coat color locus of the mouse. (1987) (35)
Regional alteration of cholinergic function in central neurons of trisomy 16 mouse fetuses, an animal model of human trisomy 21 (Down syndrome) (1994) (35)
Mitochondrial Malate Dehydrogenase: Reversible Denaturation Studies (1968) (35)
Prolonged ethanol administration depletes mitochondrial DNA in MnSOD-overexpressing transgenic mice, but not in their wild type littermates. (2009) (34)
Functional implications of gene dosage effects in trisomy 21. (1981) (34)
Effect of 5-bromodeoxyuridine on pre-implantation mouse embryo development. (1974) (34)
Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. (1968) (33)
The development of monosomy 19 mouse embryos. (1982) (33)
Overexpression of manganese superoxide dismutase (MnSOD) in whole lung or alveolar type II cells of MnSOD transgenic mice does not provide intrinsic lung irradiation protection (2001) (32)
2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics". (2002) (32)
Transgenic and mutant mice for oxygen free radical studies. (2002) (31)
Oxygen deprivation but not a combination of oxygen, glucose, and serum deprivation induces DNA degradation in mouse cortical neurons in vitro: attenuation by transgenic overexpression of CuZn-superoxide dismutase. (1996) (31)
Developing a national collaborative study system for rare genetic diseases (2008) (31)
The source of lactate dehydrogenase in preimplantation mouse embryos (1971) (31)
Production of viable adult trisomy 17 reversible diploid mouse chimeras. (1982) (31)
Synthesis of LDH-1 during mamalian oogenesis and early development. (1976) (30)
Specificity versus nonspecificity in the pathogenesis of aneuploid phenotypes. (1988) (30)
The separation of lactate dehydrogenase X from other lactate dehydrogenase isozymes of mouse testes by affinity chromatography. (1973) (30)
Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination. (1973) (30)
The production of antibodies against mammalian LDH-1. (1974) (29)
Trisomy 21: Mechanisms and Models * (1982) (29)
Lack of relationship between blood and urine levels of glycosaminoglycans and lysomal enzymes. (1975) (29)
Neonatal mouse cardiac myocytes exhibit cardioprotection induced by hypoxic and pharmacologic preconditioning and by transgenic overexpression of human Cu/Zn superoxide dismutase. (2000) (29)
Recent developments in the prenatal diagnosis of genetic diseases and birth defects. (1983) (29)
Gene dosage for isocitrate dehydrogenase in mouse embryos trisomic for chromosome 1 (1977) (29)
INVOLVEMENT OF OXIDATIVE AND L‐ARGININE‐NO PATHWAYS IN THE NEUROTOXICITY OF DRUGS OF ABUSE IN VITRO (1995) (29)
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12) (2003) (28)
Expression of c-fos and hsp70 mRNA after traumatic brain injury in transgenic mice overexpressing CuZn-superoxide dismutase. (1995) (28)
Molecular genetics of chromosome 21 and Down syndrome : proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, New York, December 7-8, 1989 (1990) (27)
The incorporation of [3H]leucine into protein by tetraphenylboron- and citrate-dispersed rat liver parenchymal cells. (1967) (27)
Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion (1991) (27)
Neuroprotective role of CuZn-superoxide dismutase in ischemic brain damage. (1996) (27)
The genetics of the skeleton (1987) (26)
Expression of hsp 70 mRNA is induced in the brain of transgenic mice overexpressing human CuZn-superoxide dismutase following transient global cerebral ischemia (1996) (26)
The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. (1995) (26)
A unique set of polypeptides is induced by gamma interferon in addition to those induced in common with alpha and beta interferons. (1983) (25)
The Consequences of Chromosome Imbalance: Gene dosage effects (1986) (25)
CHARACTERIZATION OF THE ACTIVE PRODUCT OBTAINED BY OXIDATION OF REDUCED LYSOZYME. (1963) (25)
Models for Down syndrome: chromosome 21-specific genes in mice. (1990) (25)
Gene dosage effect for glycinamide ribonucleotide synthetase in human fibroblasts trisomic for chromosome 21. (1980) (25)
Effect of the reduction of superoxide dismutase 1 and 2 or treatment with alpha-tocopherol on tumorigenesis in Atm-deficient mice. (2006) (25)
The Properties of Poly-dl-alanyl Trypsin and Poly-dl-alanyl Chymotrypsin (1962) (25)
REVERSIBLE DENATURATION OF RABBIT-MUSCLE LACTATE DEHYDROGENASE. (1964) (25)
Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus (1972) (24)
THE USE OF GEL FILTRATION IN THE ISOLATION AND PURIFICATION OF BEEF INSULIN. (1963) (23)
Role of CuZn superoxide dismutase in regulating lymphocyte apoptosis during sepsis (2000) (23)
MYH9 spectrum of autosomal‐dominant giant platelet syndromes: Unexpected association with fibulin‐1 variant‐D inactivation (2003) (23)
The molecular biology of the gene (1971) (22)
The Antiproliferative Effects of Interferon on Murine Embryonic Cells (1979) (22)
Delayed thymocyte maturation in the trisomy 16 mouse fetus. (1989) (22)
Is modern genetics the new eugenics? (2003) (22)
Phosphofructokinase and chromosome 21. (1972) (22)
A Y-autosome translocation 46,X,t(Yq-7q+) associated with multiple congenital anomalies. (1973) (21)
Transgenic Murine Dopaminergic Neurons Expressing Human Cu/Zn Superoxide Dismutase Exhibit Increased Density in Culture, but No Resistance to Methylphenylpyridinium‐Induced Degeneration (1997) (21)
Physical and genetic characterization of a 75-kilobase deletion associated with al, a recessive lethal allele at the mouse agouti locus. (1989) (21)
THE REOXIDATION OF REDUCED RIBONUCLEASE DERIVATIVES. (1964) (21)
Prenatal diagnosis of genetic diseases. (1977) (20)
Production and properties of mouse trisomy 15↔diploid chimeras (1983) (20)
Epilogue: toward the twenty-first century with Down syndrome--a personal view of how far we have come and of how far we can reasonably expect to go. (1995) (20)
Preliminary characterization of the central nervous system in partial trisomy 16 mice. (1995) (19)
The center-satellite system for the wide-scale distribution of genetic counseling services. (1975) (19)
Effects of the lethal yellow (Ay) mutation in mouse aggregation chimeras. (1990) (19)
Overexpression of mSim2 gene in the zona limitans of the diencephalon of segmental trisomy 16 Ts1Cje fetuses, a mouse model for trisomy 21: a novel whole-mount based RNA hybridization study. (2000) (19)
Transgenic mice overexpressing human copper/zinc-superoxide dismutase (Cu/Zn SOD) are not resistant to endotoxic shock. (1995) (19)
The chromosomal location of mouse interferon alpha genes. (1984) (19)
Reversible Reduction and Reoxidation of Poly-dl-alanyl Trypsin (1962) (18)
X chromosome expression during oogenesis in the mouse. (1975) (18)
The direct demonstration of an X-chromosome dosage effect prior to inactivation. (1978) (18)
Hunter syndrome presenting as macrocephaly and hydrocephalus. (1977) (18)
Werner's syndrome; caricature of aging. A genetic model for the study of degenerative diseases. (1965) (18)
Genetic testing: Hope or hype? (2004) (18)
Assignment of the gene for beta 2-microglobulin (B2m) to mouse chromosome 2. (1982) (18)
Guanine Metabolism in Preimplantation Mouse Embryos (1971) (18)
Biochemical development of preimplantation mouse embryos: In vivo activities of fructose 1,6-diphosphate aldolase, glucose 6-phosphate dehydrogenase, malate dehydrogenase, and lactate dehydrogenase (1969) (17)
Immunochemical studies of lactate dehydrogenase and glucose-6-phosphate dehydrogenase in preimplantation mouse embryos. (1974) (17)
GENFILES: a computerized medical genetics information network. II. MEDGEN: the clinical genetics system. (1980) (17)
Risk, communication, and decision making in genetic counseling. (1979) (17)
Transgenic copper/zinc-superoxide dismutase ameliorates caerulein-induced pancreatitis in mice. (1997) (17)
Chance vs. causality in the association of Down syndrome and holoprosencephaly. (1988) (17)
Electrophysiological analysis of cultured fetal mouse dorsal root ganglion neurons transgenic for human superoxide dismutase-1 a gene in the Down syndrome region of chromosome 21 (1989) (16)
The role of cyclic AMP in myogenesis (1975) (16)
Altered levels of glucose-6-phosphate dehydrogenase stabilizing factors in X-linked chronic granulomatous disease. (1972) (16)
Uridine transport by mouse blastocysts. (1973) (16)
The Mouse Trisomies (1985) (16)
A new familial arthrogryposis without weakness (1974) (16)
The mapping of transgenes by fluorescence in situ hybridization on G-banded mouse chromosomes (1994) (15)
Infantile spasms and hypopigmented macules. Early manifestations of tuberous sclerosis. (1971) (15)
The long-range restriction map surrounding the mouse agouti locus reveals a disparity between physical and genetic distances. (1989) (15)
Who should do genetic counseling, and under what circumstances? (1973) (15)
The mouse IFN-α (Ifa) locus: correlation of physical and linkage maps by in situ hybridization (1986) (14)
Antisense Manganese Superoxide Dismutase mRNA Inhibits the Antiviral Action of Interferon-γ and Interferon-α (1996) (14)
Autoradiographic distribution of [3H]neurotensin receptors in the brains of superoxide dismutase transgenic mice (1993) (14)
Copper/zinc superoxide dismutase: More is not necessarily better! (1999) (14)
Assignment of genes to the human X chromosome by the two-dimensional electrophoretic analysis of total cell proteins from rodent-human somatic cell hybrids. (1981) (14)
Neurotoxicity, drugs of abuse, and the CuZn-superoxide dismutase transgenic mice (1995) (13)
Genetic control of the response to interferon. (1981) (13)
Expression of hsp70 mRNA is induced in the brain of transgenic mice overexpressing human CuZn-superoxide dismutase following transient global cerebral ischemia. (1996) (13)
The molecular genetics of Down syndrome. (1992) (13)
Mitochondrial dysfunction and tau hyperphosphorylation in Ts 1 Cje , a mouse model for Down syndrome (2006) (13)
Inactivation of the x-chromosome. (1972) (13)
Hematopoietic progenitor cells of transgenic mice with increased copper/zinc‐superoxide dismutase activity are resistant to tumor necrosis factor (1994) (13)
Transgenic superoxide dismutase mice: Increased mesolimbic µ-opioid receptors results in greater opioid-induced stimulation and opioid-reinforced behavior. (1996) (12)
The role of calcium in the reactivation of reduced Taka-amylase. (1967) (12)
Mouse intestinal goblet cells expressing SV40 T antigen directed by the MUC2 mucin gene promoter undergo apoptosis upon migration to the villi. (2001) (12)
1996 ASHG Presidential Address. Toward the 21st century. (1997) (12)
Production of viable adult trisomy 17 *-* diploid mouse chimeras (12)
A structural analysis of hepatomegaly induced by a hormone-secreting tumor. (1967) (12)
Abnormalities in the interferon response and immune systems in Down syndrome: studies in human trisomy 21 and mouse trisomy 16. (1987) (11)
Transgenic superoxide dismutase mice differ in opioid-induced analgesia. (1995) (11)
Monocyte-derived Macrophages: An in Vitro System for Studying Hereditary Lysosomal Storage Diseases (1978) (11)
Genetic modification of the dilated cardiomyopathy and neonatal lethality phenotype of mice lacking manganese superoxide dismutase (1998) (11)
Acceleration of scrapie in trisomy 16↔diploid aggregation chimeras (1991) (11)
Oncology and immunology of Down syndrome (1987) (11)
The conceptual bases for the phenotypic mapping of conditions resulting from aneuploidy. (1993) (11)
Resistance of SOD-Transgenic Mice to Oxidative Stress (1992) (11)
The expression of the isocitrate dehydrogenase locus (ld-1) during mouse embryogenesis. (1972) (11)
Quantitative autoradiographic distribution of [3H]mazindol-labeled dopamine uptake sites in the brains of superoxide dismutase transgenic mice (1990) (10)
Tetrasomy 16 in the mouse: a more severe condition than the corresponding trisomy. (1986) (10)
Role of Superoxide Dismutase in Ischemic Brain Injury: A Study Using SOD-1 Transgenic Mice (1998) (10)
Phosphofructokinase activity in fibroblasts aneuploid for chromosome 21 (1987) (9)
Deletion of 7q11.23 Genes and Williams Syndrome (2008) (9)
GENFILES: a computerized medical genetics information network. III. Chromo: the cytogenetics database. (1980) (9)
Prenatal diagnosis of genetic disorders. (1975) (9)
Werner's syndrome and aging: a reappraisal. (1985) (9)
Quantitative autoradiographic distribution of [3H]-MPTP binding in the brains of superoxide dismutase transgenic mice (1991) (9)
Effects of genetic background on cardiovascular anomalies in the Ts16 mouse (2005) (9)
Ribonucleic acid and protein metabolism of t12/t12 embryos and T/t12 spermatozoa. (1974) (9)
The characterization of glucose-6-phosphate dehydrogenase in mouse ova. (1970) (8)
The human trisomy 21 brain: Insights from mouse models of Down syndrome (1996) (8)
The Molecular Biology of Down Syndrome (1990) (8)
Alternative ways of presenting empiric risks. (1979) (8)
CuZn superoxide dismutase transgenic retinal transplants (1999) (8)
From Down Syndrome to the Human in Human Genetics * * Previously presented at the annual meeting (2002) (8)
Some ethical implications of The Human Genome Project (2000) (8)
Lactate dehydrogenase X: effects of antibody on mouse gametes but not on early development. (1975) (8)
Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome. (1979) (8)
STUDIES ON LACTATE DEHYDROGENASE ISOZYMES IN GAMETES AND EARLY DEVELOPMENT OF MICE (1975) (7)
Medical Genetics: Recent Advances with Legal Implications (1969) (7)
Autoradiographic distribution of Mu opioid receptors in the brains of Cu/Zn‐superoxide dismutase mice (1994) (7)
Evolution by gene duplication (1971) (7)
Genetic Counseling: Present Status and Future Prospects (1975) (7)
GENFILES: a computerized medical genetics information network. I. An overview. (1980) (6)
Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12 (2001) (6)
Organized medical genetics at a crossroad. (1992) (6)
The prenatal diagnosis of genetic disorders. (1978) (6)
Reactive Oxygen Species and Vascular Cell Adhesion Molecule-1 in Distant Organ Failure Following Bile Duct Obstruction in Mice (2002) (6)
Genomic imprinting: normal complementation of murine chromosome 16. (1989) (6)
Genetic Expression during Early Mouse Development (1987) (6)
ASSIGNMENT OF THE GENES FOR SENSITIVITY TO INTERFERON (IfRec] AND SOLUBLE SUPEROXIDE DISMUTASE (SOD‐1) TO MOUSE CHROMOSOME 16 * (1980) (6)
Targeted expression of human CuZn superoxide dismutase gene in mouse central nervous system (1999) (6)
IMMUNODEFICIENCIES, ANEUPLOIDY AND INTERFERON11This work was supported by NIH grants CA 27903, HD 15583, and GM 24309 and March of Dimes Birth Defects Foundation Grants 6-126 and 1-760. (1982) (5)
Handling of actinomycin D by preimplantation mouse embryos. (1978) (5)
The Consequences of Chromosome Imbalance: Generation and properties of mouse aneuploids (1986) (5)
An elevated level of copper zinc superoxide dismutase fails to prevent oxygen induced retinopathy in mice. (1996) (5)
Aneuploidy and morphogenesis. (1991) (5)
The Effects of Chromosomal Aneuploidy on Early Development Experimental Approaches (1981) (5)
Evolving Genes and Proteins: A Symposium held at the Institute of Microbiology of Rutgers.Vernon Bryson , Henry J. Vogel (1966) (5)
[Effect of free radicals on the permeability of the blood brain barrier--using in vitro blood brain barrier model of human-SOD transgenic mouse]. (1994) (5)
Novel mutations in an otherwise strictly conserved domain of CuZn superoxide dismutase (1997) (5)
Medical geneticists in the 21st century (2005) (5)
Human Malformations and Their Genetic Basis (2016) (5)
The lethal yellow allele-associated provirus results in the production of chimeric viral-host RNAs. (1987) (5)
GENETIC COUNSELLING FOR HUNTER SYNDROME (1976) (5)
Computer-assisted analysis demonstrates that polypeptides induced by natural and recombinant human interferon-alpha are the same and that some have related primary structures. (1983) (5)
STRUCTURAL AND CONTROL GENE DEFECTS IN HEREDITARY DISEASES IN MAN. (1964) (4)
A Study of the Factors Influencing the Rate and Extent of Enzymic Reactivation during Reoxidation of Reduced Ribonucelase (1962) (4)
Modeling cholinergic abnormalities in Down syndrome and Alzheimer's disease. (1991) (4)
Evolutionary origins of human proteins. (1965) (4)
The Role of Superoxide Anions in the Establishment of an Interferon-α-Mediated Antiviral State (1992) (4)
The Consequences of Chromosome Imbalance: Trisomy 21 (Down syndrome) (1986) (4)
Interferon induction of (2′–5′) oligoisoadenylate synthetase in diploid and trisomy 21 human fibroblasts: Relation to dosage of the interferon receptor gene (IRFC) (2004) (4)
Stimulation of amniotic fluid cell growth by cartilage growth factor. (1980) (4)
Genetics in primary care: what do we expect? (2001) (4)
Isolation of transcribed DNA sequences from chromosome 21 using mouse fetal cDNA (1986) (3)
Use of teratocarcinoma stem cells as a model system for the study of X-chromosome inactivation in vitro. (1978) (3)
Trisomic and Transgenic Mice in the Study of the Pathogenesis of Alzheimer’s Disease and Down’s Syndrome (1988) (3)
Seven momentous years. (1993) (3)
Antisense manganese superoxide dismutase mRNA inhibits the antiviral action of interferon-gamma and interferon-alpha. (1996) (3)
Molecular and cytogenetic studies of non-disjunction : proceedings of the Fifth Annual National Down Syndrome Society Symposium held in New York, NY, December 1-2, 1988 (1989) (3)
The Consequences of Chromosome Imbalance: The differentiability and variability of phenotypes (1986) (3)
The role of superoxide anions in the establishment of an interferon-alpha-mediated antiviral state. (1992) (3)
Enhanced susceptibility of mouse embryos heterozygous for oligosyndactyly (Os/+) to mitomycin C-induced skeletal abnormalities. (1987) (3)
Amino acid uptake and protein synthesis in preimplanatation mouse embryos. (1973) (3)
THE COFFIN-SIRIS (CS) SYNDROME (1977) (3)
Chapter 9. The Use of Growth Factors to Stimulate the Proliferation of Amniotic Fluid Cells (1982) (3)
Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus (1972) (2)
Etiology and pathogenesis of Down syndrome : proceedings of the International Down Syndrome Research Conference (1995) (2)
The Consequences of Chromosome Imbalance: The partitioning of phenotypes (1986) (2)
Phosphofructokinase activity in normal diploid mice during development and in trisomy 16 fetal mice. (1988) (2)
Diagnosis and treatment of fetal disorders. (1970) (2)
The Consequences of Chromosome Imbalance: Monosomy X (Turner syndrome, gonadal dysgenesis) (1986) (2)
Preliminary characterization of long-term reaggregating cultures of trisomy 16 central nervous system. (1992) (2)
Genetic control of early mammalian development. (1982) (2)
Response to Dr. Shapiro by Dr. Epstein (1989) (2)
DNA cytophotometry in pre‐natal cytogenetic diagnosis (1977) (2)
N-Methyl-D-Aspartate-Mediated Neurotoxicity Is Associated with Oxygen-Derived Free Radicals**This work is supported in part by NIH grants NS-14543, AG-08938, and NS-25372. The authors wish to thank Julie Weigel for editorial assistance. (1995) (2)
The Role of Oxidative Imbalance in the Pathogenesis of Down Syndrome (2003) (2)
2010 Victor A. McKusick Leadership Award introduction and address. (2011) (2)
The mouse IFN-alpha (Ifa) locus: correlation of physical and linkage maps by in situ hybridization. (1986) (2)
Embryonic development. Part A: Genetic aspects. Part B: Cellular aspects (1984) (2)
Isolation of a mouse homolog of the human DAZ (Deleted in Azoospermia) gene (1996) (2)
Down syndrome and Alzheimer disease : proceedings of the National Down Syndrome Society Conference on Down Syndrome and Alzheimer Disease, held in New York, January 16 and 17, 1992 (1992) (1)
CHAPTER 24 – Early Embryonic Development: Normal and Abnormal (1984) (1)
Developmental genetics (2005) (1)
Thoughts on Human Genetics Education. (1980) (1)
Birth defects, dysmorphology, and genetic counseling. (1979) (1)
The prevention of genetic disease and mental retardation. (1976) (1)
Early Mammalian Development: Nucleoside Transport and RNA Synthesis (1970) (1)
Glutathione Peroxidase Activity Decreases and Hydrogen Peroxide Accumulates after Perinatal Hypoxia-Ischemia in SOD 1 Overexpressing Mice • 1714 (1997) (1)
Enhanced survival of transplanted dopaminergic neurons overexpressing CuZn-superoxide dismutase in a rat model of Parkinson's disease (1996) (1)
Use of chromosome fluorescence in evaluating human chromosome fractionation. (1971) (1)
The use of growth factors in stimulate the proliferation of amniotic fluid cells. (1982) (1)
P2-101 Reduced LTP and enhanced inhibition in dentate gyrus of TS65DN mice, a model for down's syndrome (2004) (1)
Minutes of the Human Gene Therapy Subcommittee meeting, November 21-22, 1991 (1994) (1)
The Consequences of Chromosome Imbalance: Cancer (1986) (1)
Modulation of P-selectin expression in the postischemic intestinal microvasculature. (1997) (1)
WERNER'S SYNDROME. (1965) (1)
H-2 antigens as genetic markers: A two-dimensional gel electrophoretic study (2005) (1)
Down Syndrome, Molecular Genetics of (2006) (1)
The nonexistence of genetic determinism (2002) (0)
Sex chromosome expression in embryonic development. (1983) (0)
Guanine metabolism in preimplantation mouse embryo. (1971) (0)
The preventability of birth defects. (1970) (0)
GJA1, connexin 43 and oculodentodigital syndrome (2008) (0)
A medical genetics information system. (1982) (0)
Meeting Announcement (2005) (0)
Deficient transformation of murine trisomy 16 fetal liver cells by the Abelson and J2 viruses. (1992) (0)
retinopathy in mice . dismutase fails to prevent oxygen induced An elevated level of copper zinc superoxide (0)
The Consequences of Chromosome Imbalance: Glossary (1986) (0)
Treacle and Treacher Collins syndrome (2008) (0)
Atypical Down Syndrome phenotype with translocation Trisomy 21 (1999) (0)
Book ReviewHuman Chromosomes: Structure, behavior, effects (1986) (0)
A New Form of Hereditary Kyphoscoliosis. (1965) (0)
The Consequences of Chromosome Imbalance: Models for human aneuploidy (1986) (0)
Prenatal Detection of Genetic Diseases (1976) (0)
Transcriptome modifications in postnatal cerebellum devleopment of Ts1Cje mice, a model for Trisomy 21 (2004) (0)
Construction and testing of a homologous recombination vector for mutating mouse CUZN superoxide dismutase gene (Sod-1) (1993) (0)
The Consequences of Chromosome Imbalance: References (1986) (0)
Mouse Models of Human Trisomy 21 (Down Syndrome) (1992) (0)
Editorial: New educational initiative for the journal. (1987) (0)
Table of Contents (1994) (0)
Advances in prenatal detection of genetic disease. (1971) (0)
Phenylketonuria, the inborn errors of metabolism, and clinical research--1971. (1971) (0)
EUROPEAN BEHAVIOURAL AND NEURAL GENETICS SOCIETY FIRST ANNUAL GENERAL MEETING September 29-October 1 , 1997 Orléans , France Provisional Executive Committee (2007) (0)
The Consequences of Chromosome Imbalance: Appendix: Standard karyotypes of man and mouse and human cytogenetic nomenclature (1986) (0)
A (14;15) Robertsonian translocation, 45 chromosomes (1976) (0)
Transgenic copper/zinc superoxide dismutase modulates susceptibility totypeIdiabetes H.MICHAELKUBISCH*t, JUNQIAN WANGt,RALFLUCHE§, ELAINECARLSON§, TAMMYM.BRAYI, (1994) (0)
Goblet cell-specific expression mediated by the MUC2 mucin gene promoter in the intestine of transgenic mice. (1999) (0)
The Consequences of Chromosome Imbalance: Preface (1986) (0)
Marfan's syndrome or variant? (1969) (0)
Transgenic Cu/Zn sod modulates susceptibility to oxygen radical-induced type I diabetes (1993) (0)
The Consequences of Chromosome Imbalance: Nonspecific effects of aneuploidy (1986) (0)
Mechanisms of cell change. (1980) (0)
Studies of Neuronal Necrosis and Apoptosis after Global Cerebral Ischemia in Superoxide Dismutase Transgenic and Knockout Mutants (1999) (0)
Isolation of a putative mouse genomic MN superoxide dismutase gene (Sod-2) (1993) (0)
Principles of mammalian aging. (1973) (0)
Oncology and immunology of Down syndrome. Proceedings of the National Down Syndrome Society Symposium. New York, December 4 and 5, 1986. (1987) (0)
From Russia, with distinction (1988) (0)
Reduced dopamine uptake sites in homozygous Cu/Zn super-oxide dismutase transgenic mice (1994) (0)
A (14;15) Robertsonian translocation, 45 chromosomes. Repository identification No. GM-479. (1976) (0)
Aneuploidy in Mouse and Man (1987) (0)
Neurodegeneration and gene dysregulation: studies utilizing the mouse trisomy 16 model of Down syndrome. (1992) (0)
The morphogenesis of down syndrome : proceedings of the National Down Syndrome Society Conference on Morphogenesis and Down Syndrome, held in New York, January 17 and 18, 1991 (1991) (0)
Deification of the genes (1999) (0)
Is Human Genetics Becoming Dagerous to Society (2002) (0)
Human genetics, problems and approaches (1980) (0)
Progress in medical genetics (1971) (0)
The Consequences of Chromosome Imbalance: The problem of aneuploidy (1986) (0)
Organization and control in prokaryotic and eukaryotic cells. (1970) (0)
Polypeptide induction by recombinant human IFN-gamma. (1983) (0)
The Consequences of Chromosome Imbalance: Regulatory systems (1986) (0)
reperfusion injury after focal cerebral ischemia Human copper-zinc superoxide dismutase transgenic mice are highly resistant to (2011) (0)
Social aspects of medical genetics. (1967) (0)
linkage to chromosome 22q11-13 genetic defect as in Fechtner syndrome owing to a similar genetic Autosomal-dominant giant platelet syndromes: a hint of the same (2011) (0)
The Consequences of Chromosome Imbalance: Type and countertype (1986) (0)
Apoptosis as an anti-neoplastic mechanism in mice expressing a goblet cell-specific hybrid oncogene (2000) (0)
Assignment of the gene for . 82-microglobulin ( B 2 m ) to mouse chromosome 2 ( somatic cell hybrids / two-dimensional gel electrophoresis / comparative mapping / mouse Robertsonian translocation chromosomes / major histocompatibility complex ) (0)
Abnormal long-term depression in the Ts65Dn mouse suggests a basis for defective learning in Down syndrome (1998) (0)
Early Warning (1999) (0)
Interferon Regulatory Factor 6 (IRF6) is causal in Van der Woude and popliteal pterygium syndromes and contributes to the risk for non-syndromic cleft lip and palate (2008) (0)
Use of Concanavalin A to Monitor Changes in Glycoprotein Synthesis during Early Mouse Development (1981) (0)
The genetic activity of early mammalian embryos. (1976) (0)
Animal Models of Down Syndrome and Other Genetic Diseases Associated with Mental Retardation (2005) (0)
CHAPTER 34 – Educational Strategies in Genomic Medicine (2009) (0)
The phenotypic mapping of down syndrome and other aneuploid conditions : proceedings of a National Down Syndome Society conference held in New York, January 14 and 15, 1993 (1993) (0)
The Consequences of Chromosome Imbalance: Assembly of macromolecules, cellular interactions, and pattern formation (1986) (0)
Metabolic pathways, transport systems, and receptors (1986) (0)
RISKS OF MALFORMED RELATIVES (1976) (0)
Infantile (type II) Gaucber's disease" diagnosis and fetal pathology (1972) (0)
The forensic applications of molecular genetics--the journal's responsibility. (1991) (0)
IS-74 Mouse models for intrauterine growth retardation : segmental trisomy and monosomy 16 in the mouse (1999) (0)
Making history. (1990) (0)
VPS13B and Cohen syndrome (2008) (0)

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