(Q37360568)

19 August 2017

2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics" (English)

1 reference

19 August 2017

1 reference

1 reference

Charles J Epstein

1

1 reference

PMCID

384910

19 August 2017

language of work or name

English

0 references

publication date

26 December 2001

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

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19 August 2017

2

1 reference

19 August 2017

300-313

1 reference

The molecular biology of memory storage: a dialogue between genes and synapses

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Ts65Dn -- localization of the translocation breakpoint and trisomic gene content in a mouse model for Down syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Too much of a good thing: mechanisms of gene action in Down syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

The use of transgenic and mutant mice to study oxygen free radical metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

1996 ASHG Presidential Address. Toward the 21st century

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Positional cloning of the Werner's syndrome gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Down syndrome phenotypes: the consequences of chromosomal imbalance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Production of viable adult trisomy 17 reversible diploid mouse chimeras

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Mammalian oocytes: X chromosome activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

The William Allan Memorial Award Lecture. On the nature of men

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Glucose 6-phosphate-dehydrogenase activity in the preimplantation mouse embryo

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Principles that govern the folding of protein chains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Stem cell deficiencies and thymic abnormalities in fetal mouse trisomy 16.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Localization of the Gene AVG for the Antiviral Expression of Immune and Classical Interferon to the Distal Portion of the Long Arm of Chromosome 21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Transgenic models for chromosome 21 gene dosage effects.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

A murine model for Down syndrome shows reduced responsiveness to pain.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Copper/zinc superoxide dismutase transgenic brain accumulates hydrogen peroxide after perinatal hypoxia ischemia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Behavioral assessment of the Ts65Dn mouse, a model for Down syndrome: altered behavior in the elevated plus maze and open field

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Nerve growth factor reverses neuronal atrophy in a Down syndrome model of age-related neurodegeneration

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

A mouse model for Down syndrome exhibits learning and behaviour deficits.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Delayed thymocyte maturation in the trisomy 16 mouse fetus

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Systematic approach to the study of trisomy in the mouse. II

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Cost and effectiveness of the California triple marker prenatal screening program

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Genetic dissection of region associated with behavioral abnormalities in mouse models for Down syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Ubiquitous overexpression of CuZn superoxide dismutase does not extend life span in mice

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Increased synaptic depression in the Ts65Dn mouse, a model for mental retardation in Down syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

Synthesis of Interferon-Induced Polypeptides in Normal and Chromosome 21-Aneuploid Human Fibroblasts: Relationship to Relative Sensitivities in Antiviral Assays

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384910

The disability rights critique of prenatal genetic testing. Reflections and Recommendations

2 September 2018

1 reference

12 December 2020

Lactate dehydrogenase activity in the preimplanted mouse embryo

1 reference

12 December 2020

Expression of the mammalian X chromosome before and after fertilization

1 reference

12 December 2020

Replication rate and lifespan of cultured fibroblasts in Down's syndrome

1 reference

12 December 2020

Cell surface changes during preimplantation development in the mouse

1 reference

12 December 2020

Both X chromosomes function before visible X-chromosome inactivation in female mouse embryos

1 reference

12 December 2020

Enhanced sensitivity of trisomy 21 monocytes to the maturation-inhibiting effect of interferon

1 reference

12 December 2020

Direct evidence that the gene product of the human chromosome 21 locus, IFRC, is the interferon-α receptor

1 reference

12 December 2020

Metabolism of Oxygen Derivatives in Down's Syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/338915

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

PMCID

384910