(Q37186009)

English

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

scientific article published on 23 January 2013

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Williams-Beuren syndrome

1 reference

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inferred from title

Véronique Satre

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Charles Coutton

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jaap Jan Boelens

9

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Marie J Stasia

1

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Europe PubMed Central

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22 February 2020

Michèle Mollin

2

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Europe PubMed Central

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22 February 2020

Cécile Martel

3

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22 February 2020

Florence Amblard

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Gaëlle Vieville

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Joris M van Montfrans

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hermine E Veenstra-Knol

10

1 reference

Europe PubMed Central

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22 February 2020

Karen van Leeuwen

11

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Europe PubMed Central

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22 February 2020

Martin de Boer

12

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Europe PubMed Central

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22 February 2020

Jean-Paul Brion

13

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Europe PubMed Central

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22 February 2020

Dirk Roos

14

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Europe PubMed Central

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22 February 2020

publication date

23 January 2013

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22 February 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

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22 February 2020

21

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Europe PubMed Central

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22 February 2020

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1079-1084

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Biochemistry, physiology, and pathophysiology of NADPH oxidases in the cardiovascular system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Chronic granulomatous disease: the European experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Complementation of NADPH oxidase in p67-phox-deficient CGD patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Williams-Beuren syndrome: genes and mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

6 September 2017

Severe Clinical Forms of Cytochromeb–Negative Chronic Granulomatous Disease (X91−) in 3 Brothers with a Point Mutation in the Promoter Region ofCYBB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

26 June 2018

Activation of O2(-)-generating oxidase in an heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils. Application to the study of defects in cytosolic factors in chronic granulomatous dise

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

26 June 2018

A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

3 September 2018

Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

3 September 2018

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778347

3 September 2018

Williams-Beuren syndrome: a model of recurrent genomic mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23340515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23340515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Stable Nonfluorescent Derivative of Resorufin for the Fluorometric Determination of Trace Hydrogen Peroxide: Applications in Detecting the Activity of Phagocyte NADPH Oxidase and Other Oxidases

1 reference

https://pubmed.ncbi.nlm.nih.gov/23340515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis and assessment of the capacity of neutrophils to produce reactive oxygen species in a 96-well microplate format using lucigenin- and luminol-dependent chemiluminescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/23340515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation of NADPH oxidase in p67-phox-deficient CGD patients p67-phox/p40-phox interaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/23340515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2012.310

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23340515%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

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