(Q84523904)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739587%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations (English)

1 reference

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7 February 2020

main subject

Smith-Magenis syndrome

1 reference

1 reference

1

1 reference

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7 February 2020

5

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739587%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

3

Daniel G Glaze

1 reference

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7 February 2020

author name string

Russel J Reiter

series ordinal

2

1 reference

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7 February 2020

Dun-Xian Tan

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739587%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Lorraine Potocki

series ordinal

6

1 reference

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7 February 2020

publication date

7 July 2011

1 reference

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American Journal of Medical Genetics

7 February 2020

published in

1 reference

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7 February 2020

volume

155A

1 reference

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7 February 2020

issue

8

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7 February 2020

page(s)

2024-2027

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

7 February 2020

cites work

1 reference

12 December 2020

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

1 reference

12 December 2020

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

1 reference

12 December 2020

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

1 reference

12 December 2020

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

1 reference

12 December 2020

Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

1 reference

12 December 2020

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

1 reference

12 December 2020

Dexras1 potentiates photic and suppresses nonphotic responses of the circadian clock

1 reference

12 December 2020

Fall in nocturnal serum melatonin during prepuberty and pubescence

1 reference

12 December 2020

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1 reference

12 December 2020

Pineal Melatonin: Cell Biology of Its Synthesis and of Its Physiological Interactions*

1 reference

12 December 2020

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

12 December 2020

Melatonin shifts human circadian rhythms according to a phase-response curve

1 reference

12 December 2020

Twenty-four hour urinary excretion of 6-hydroxymelatonin sulfate in Down syndrome subjects

1 reference

12 December 2020

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Efficacy of melatonin as a sleep-promoting agent

1 reference

12 December 2020

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

1 reference

12 December 2020

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment

1 reference

12 December 2020

Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin.

1 reference

12 December 2020

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

1 reference

12 December 2020

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

1 reference

12 December 2020

Clinical trials of controlled-release melatonin in children with sleep-wake cycle disorders

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.34098

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739587%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

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7 February 2020

PubMed publication ID

21739587

1 reference