(Q51932100)

17 April 2018

title

Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population. (English)

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17 April 2018

author name string

Stella Amenta

1

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17 April 2018

Christalena Sofocleous

2

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17 April 2018

Angeliki Kolialexi

3

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17 April 2018

Loretta Thomaidis

4

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17 April 2018

Sotiris Giouroukos

5

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17 April 2018

Emmanuel Karavitakis

6

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17 April 2018

Ariadni Mavrou

7

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17 April 2018

Sophia Kitsiou

8

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17 April 2018

Emmanuel Kanavakis

9

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17 April 2018

Helen Fryssira

10

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17 April 2018

language of work or name

English

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publication date

17 March 2005

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17 April 2018

published in

Pediatric Research

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17 April 2018

volume

57

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17 April 2018

issue

6

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17 April 2018

page(s)

789-795

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17 April 2018

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000157675.06850.68

exact match

0 references

cites work

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The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

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21 January 2018

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21 January 2018

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Williams syndrome: from genotype through to the cognitive phenotype

21 January 2018

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Identification of additional transcripts in the Williams-Beuren syndrome critical region

21 January 2018

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LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

21 January 2018

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Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

21 January 2018

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Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

21 January 2018

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Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition

21 January 2018

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Identification of the LIM kinase-1 as a ceramide-regulated gene in renal mesangial cells

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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Genome architecture, rearrangements and genomic disorders

21 January 2018

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Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia

21 January 2018

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Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis

21 January 2018

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Elastin mutation and cardiac disease

21 January 2018

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The molecular basis of vascular disorders

21 January 2018

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Differences by sex in cardiovascular disease in Williams syndrome.

21 January 2018

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Cardiovascular manifestations in 75 patients with Williams syndrome

21 January 2018

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Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome

21 January 2018

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Williams-Beuren syndrome: an update and review for the primary physician

21 January 2018

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Stroke in Williams syndrome

21 January 2018

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Sudden death in Williams syndrome: report of ten cases

21 January 2018

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Concomitant reentrant tachycardias from concealed accessory atrioventricular bypass tract and atrioventricular nodal reentry in a patient with Williams syndrome

21 January 2018

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Renal findings in 40 individuals with Williams syndrome.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss.

21 January 2018

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Single signal of the Williams syndrome chromosome region 1 gene in hyperploidic bone marrow cells of acute lymphoblastic leukemia in a Williams syndrome patient.

21 January 2018

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Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.

21 January 2018

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Williams-Beuren syndrome in monozygotic twins with variable expression.

21 January 2018

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21 January 2018

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Delay in diagnosis of Williams syndrome.

21 January 2018

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Independence and adaptive behavior in adults with Williams syndrome.

21 January 2018

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

21 January 2018

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Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

21 January 2018

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10.1203/01.PDR.0000157675.06850.68

21 January 2018

Identifiers

DOI

1 reference

17 April 2018

Dimensions Publication ID

0 references

1 reference

17 April 2018