(Q28290257)

1

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Alexandre Reymond

4

object named as

Alexandre Reymond

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Emmanouil Dermitzakis

3

object named as

Emmanouil T Dermitzakis

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author name string

Robert Lyle

2

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Samuel Deutsch

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

5

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language of work or name

English

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publication date

October 2004

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published in

Nature Reviews Genetics

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volume

5

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issue

10

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page(s)

725-38

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cites work

1 reference

The DNA sequence of human chromosome 21

21 April 2017

1 reference

Initial sequencing and analysis of the human genome

21 April 2017

1 reference

The Sequence of the Human Genome

21 April 2017

1 reference

From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map

21 April 2017

1 reference

Nineteen additional unpredicted transcripts from human chromosome 21

21 April 2017

1 reference

The sequence of human chromosome 21 and implications for research into Down syndrome

21 April 2017

1 reference

Large-scale transcriptional activity in chromosomes 21 and 22

21 April 2017

1 reference

Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22

21 April 2017

1 reference

Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs

21 April 2017

1 reference

Initial sequencing and comparative analysis of the mouse genome

21 April 2017

1 reference

Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

21 April 2017

1 reference

Global up-regulation of chromosome 21 gene expression in the developing down syndrome brain

21 April 2017

1 reference

Transformation of axial skeleton due to overexpression of bmi-1 in transgenic mice

21 April 2017

1 reference

Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22

21 April 2017

1 reference

A high-resolution recombination map of the human genome

21 April 2017

1 reference

Recent segmental duplications in the human genome

21 April 2017

1 reference

To err (meiotically) is human: the genesis of human aneuploidy

21 April 2017

1 reference

Comparative analyses of multi-species sequences from targeted genomic regions

21 April 2017

1 reference

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

21 April 2017

1 reference

Assembly of microarrays for genome-wide measurement of DNA copy number

21 January 2018

1 reference

Molecular mechanisms for genomic disorders

21 January 2018

1 reference

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

21 January 2018

1 reference

Chromosome aberrations in solid tumors

21 January 2018

1 reference

10 years of Genomics, chromosome 21, and Down syndrome

21 January 2018

1 reference

Parental origin and timing of de novo Robertsonian translocation formation

21 January 2018

1 reference

21 January 2018

1 reference

The neuropsychology of Down syndrome: evidence for hippocampal dysfunction

21 January 2018

1 reference

Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions

21 January 2018

1 reference

A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3.

21 January 2018

1 reference

A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome.

21 January 2018

1 reference

DNA sequence and comparative analysis of chimpanzee chromosome 22.

21 January 2018

1 reference

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

21 January 2018

1 reference

Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment

21 January 2018

1 reference

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

21 January 2018

1 reference

The dog genome: survey sequencing and comparative analysis.

21 January 2018

1 reference

Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional

21 January 2018

1 reference

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

21 January 2018

1 reference

Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse.

21 January 2018

1 reference

Motor dysfunction in a mouse model for Down syndrome.

21 January 2018

1 reference

Impaired short- and long-term memory in Ts65Dn mice, a model for Down syndrome.

21 January 2018

1 reference

Murine models for Down syndrome

21 January 2018

1 reference

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

21 January 2018

1 reference

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

21 January 2018

1 reference

Human chromosome 21 gene expression atlas in the mouse.

21 January 2018

1 reference

A gene expression map of human chromosome 21 orthologues in the mouse

21 January 2018

1 reference

Global disruption of the cerebellar transcriptome in a Down syndrome mouse model.

21 January 2018

1 reference

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

21 January 2018

1 reference

Down syndrome congenital heart disease: a narrowed region and a candidate gene

21 January 2018

1 reference

Measurement of locus copy number by hybridisation with amplifiable probes

21 January 2018

1 reference

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

21 January 2018

1 reference

Mechanisms of the effects of aneuploidy in mammals

21 January 2018

1 reference

Alternate stoichiometries of alpha4beta2 nicotinic acetylcholine receptors

21 January 2018

1 reference

Functional identification of the mouse circadian Clock gene by transgenic BAC rescue

21 January 2018

1 reference

The choice of cell fate in the epidermis of Drosophila.

21 January 2018

1 reference

Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.

21 January 2018

1 reference

The gradient morphogen bicoid is a concentration-dependent transcriptional activator.

21 January 2018

1 reference

Gene expression analyzed by high-resolution state array analysis and quantitative proteomics: response of yeast to mating pheromone

21 January 2018

1 reference

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

21 January 2018

1 reference

Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

21 January 2018

1 reference

A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q

21 January 2018

1 reference

Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes.

21 January 2018

1 reference

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

21 January 2018

1 reference

Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?

21 January 2018

1 reference

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

1 reference

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

31 March 2020

1 reference

Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage

31 March 2020

1 reference

Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21

31 March 2020

1 reference

Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21.

31 March 2020

1 reference

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

31 March 2020

1 reference

Partial IFN-alpha/beta and IFN-gamma receptor knockout trisomy 16 mouse fetuses show improved growth and cultured neuron viability

31 March 2020

1 reference

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

31 March 2020

1 reference

Transcriptome analysis of human autosomal trisomy

31 March 2020

1 reference

Down syndrome phenotypes: the consequences of chromosomal imbalance

31 March 2020

1 reference

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

31 March 2020

1 reference

A tiling resolution DNA microarray with complete coverage of the human genome

31 March 2020

1 reference

Trisomy 21: Mechanisms and Models

31 March 2020

1 reference

Normal stoichiometry of histone dimer sets is necessary for high fidelity of mitotic chromosome transmission

31 March 2020

1 reference

Four pharmacologically distinct subtypes of alpha4beta2 nicotinic acetylcholine receptor expressed in Xenopus laevis oocytes.

31 March 2020

1 reference

Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice

31 March 2020

1 reference

Kinetics of homophilic binding by embryonic and adult forms of the neural cell adhesion molecule

31 March 2020

1 reference