(Q48715251)

14 February 2018

title

Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study. (English)

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14 February 2018

main subject

Smith-Magenis syndrome

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1 reference

Naomi Hino-Fukuyo

1

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14 February 2018

Kazuhiro Haginoya

2

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14 February 2018

Mitsugu Uematsu

3

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14 February 2018

Tojo Nakayama

4

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14 February 2018

Atsuo Kikuchi

5

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14 February 2018

Shigeo Kure

6

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14 February 2018

Fumiaki Kamada

7

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14 February 2018

Yu Abe

8

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14 February 2018

Natsuko Arai

9

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14 February 2018

Noriko Togashi

10

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14 February 2018

Akira Onuma

11

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14 February 2018

Shigeru Tsuchiya

12

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14 February 2018

publication date

4 March 2009

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14 February 2018

Journal of Child Neurology

published in

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14 February 2018

volume

24

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14 February 2018

issue

7

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14 February 2018

page(s)

868-873

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14 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

Mutations in RAI1 associated with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

New developments in Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808330186

21 January 2018

Identifiers

DOI

10.1177/0883073808330186

1 reference

14 February 2018

1 reference

14 February 2018