Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum (Q28252393)

2

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Barbara B Szomju

3

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Emily Edelman

4

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Christopher D Trevors

5

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Lucie Dupuis

6

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Marjan Nezarati

7

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David J Bunyan

8

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Sarah H Elsea

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

9

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language of work or name

English

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publication date

July 2006

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published in

Genetics in Medicine

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volume

8

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page(s)

417-27

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issue

7

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cites work

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Otorhinolaringologic manifestation of Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Ophthalmic manifestations of Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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/10.1097%2F01.GIM.0000228215.32110.89

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/10.1097%2F01.GIM.0000228215.32110.89

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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/10.1097%2F01.GIM.0000228215.32110.89

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

TACI is mutant in common variable immunodeficiency and IgA deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000228215.32110.89

10.1097/01.GIM.0000228215.32110.89

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

2292767

1017765917

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2292767

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference