Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike (Q28589807)

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English	Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike	scientific journal article

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scholarly article

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31 January 2017

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Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike (English)

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31 January 2017

Retinoic acid induced 1

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GOA release 2020-03-11

Smith-Magenis syndrome

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based on heuristic

inferred from title

James R. Lupski

3

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author name string

Jiong Yan

1

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31 January 2017

Weimin Bi

2

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31 January 2017

language of work or name

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publication date

1 March 2007

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31 January 2017

American Journal of Human Genetics

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31 January 2017

80

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31 January 2017

3

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31 January 2017

518–525

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31 January 2017

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

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17 March 2017

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

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17 March 2017

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

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17 March 2017

The adaptor protein Tom1L1 is a negative regulator of Src mitogenic signaling induced by growth factors

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17 March 2017

Recruitment of clathrin onto endosomes by the Tom1-Tollip complex

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17 March 2017

GTF2IRD1 in craniofacial development of humans and mice

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17 March 2017

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

1 reference

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17 March 2017

A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2

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COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

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Transvection effects in Drosophila

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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

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17 March 2017

Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria

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A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease

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Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene

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Discriminating power of localized three-dimensional facial morphology

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29 September 2017

Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences

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29 September 2017

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

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29 September 2017

Long-range control of gene expression: emerging mechanisms and disruption in disease

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29 September 2017

Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat

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29 September 2017

Genomic regulatory regions: insights from comparative sequence analysis

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29 September 2017

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

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29 September 2017

Cross-species sequence comparisons: a review of methods and available resources

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29 September 2017

Genetic profile of insertion mutations in mouse leukemias and lymphomas

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29 September 2017

The face of Smith-Magenis syndrome: a subjective and objective study

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29 September 2017

Disruption of the murine gene encoding phosphatidylethanolamine N-methyltransferase

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29 September 2017

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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29 September 2017

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

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29 September 2017

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

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3 June 2018

Retinoic acid-induced asymmetric craniofacial growth and cleft palate in the TO mouse fetus

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3 June 2018

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

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27 November 2018

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

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Dexras1 potentiates photic and suppresses nonphotic responses of the circadian clock

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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

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27 November 2018

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

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27 November 2018

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

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Mutations in RAI1 associated with Smith-Magenis syndrome.

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Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

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Position effect in human genetic disease

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