(Q44667884)

5 December 2017

title

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits (English)

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5 December 2017

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Contiguous gene syndrome

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Michael J Doherty

1

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5 December 2017

Ian A Glass

2

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5 December 2017

Craig L Bennett

3

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5 December 2017

Phil D Cotter

4

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5 December 2017

Nate F Watson

5

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5 December 2017

Anna L Mitchell

6

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5 December 2017

Tom D Bird

7

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5 December 2017

Don F Farrell

8

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5 December 2017

publication date

1 December 2003

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5 December 2017

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5 December 2017

volume

44

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5 December 2017

issue

12

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5 December 2017

page(s)

1529-1535

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A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

5 December 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Schizophrenia susceptibility gene locus at Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Patients with intractable epilepsy have low melatonin, which increases following seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Melatonin treatment of non-epileptic myoclonus in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Inattention, hyperactivity, and symptoms of sleep-disordered breathing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Effect of melatonin on sleep-wake rhythm: the sleep diary of an autistic male

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Melatonin in epilepsy: first results of replacement therapy and first clinical results

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2003.61702.X

10.1111/J.0013-9580.2003.61702.X

21 January 2018

Identifiers

DOI

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5 December 2017

1 reference