Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome (Q34509186)

2 August 2017

title

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome (English)

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2 August 2017

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L Potocki

1

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2 August 2017

D Glaze

2

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2 August 2017

D X Tan

3

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2 August 2017

S S Park

4

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2 August 2017

C D Kashork

5

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2 August 2017

L G Shaffer

6

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2 August 2017

R J Reiter

7

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2 August 2017

J R Lupski

8

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2 August 2017

language of work or name

English

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publication date

1 June 2000

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Journal of Medical Genetics

2 August 2017

published in

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2 August 2017

volume

37

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2 August 2017

issue

6

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2 August 2017

page(s)

428-433

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Complex effects of melatonin: evidence for photoperiodic responses in humans?

2 August 2017

cites work

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Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2

7 July 2018

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The COP9 complex is conserved between plants and mammals and is related to the 26S proteasome regulatory complex

7 July 2018

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Cloning, Genomic Structure, and Expression of Mouse Ring Finger Protein GeneZnf179

7 July 2018

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Melatonin and human reproduction

7 July 2018

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Integrating the actions of melatonin on human physiology.

7 July 2018

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

7 July 2018

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Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

7 July 2018

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

7 July 2018

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The COP9 complex, a novel multisubunit nuclear regulator involved in light control of a plant developmental switch

7 July 2018

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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

7 July 2018

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The melatonin rhythm: both a clock and a calendar

7 July 2018

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The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2

7 July 2018

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The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

7 July 2018

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Development and validation of a melatonin radioimmunoassay using radioiodinated melatonin as tracer

7 July 2018

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Contiguous gene syndromes: a component of recognizable syndromes

7 July 2018

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

7 July 2018

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

7 July 2018

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Sleep disturbance in smith-magenis syndrome (del 17 p11.2)

7 July 2018

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Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2

27 October 2018

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Radioimmunoassay for 6-Sulphatoxymelatonin in Urine Using an Iodinated Tracer

27 October 2018

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12 December 2020

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

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12 December 2020

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy

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12 December 2020

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

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12 December 2020

Oxidative damage in the central nervous system: protection by melatonin

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12 December 2020

Immunoassay of 6-hydroxymelatonin sulfate in human plasma and urine: abolition of the urinary 24-hour rhythm with atenolol

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12 December 2020

Identifiers

DOI

10.1136/JMG.37.6.428

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2 August 2017

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2 August 2017

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