H Cuppens
Overview
Explore the profile of H Cuppens including associated specialties, affiliations and a list of published articles.
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49
Citations
1072
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Recent Articles
1.
Stinckens A, Vereijken A, Ons E, Konings P, Van As P, Cuppens H, et al.
Facts Views Vis Obgyn
. 2016 Mar;
7(3):163-72.
PMID: 26977265
The Cosmopolitan Chicken Project is an artistic undertaking of renowned artist Koen Vanmechelen. In this project, the artist interbreeds domestic chickens from different countries aiming at the creation of a...
2.
De Boeck K, Zolin A, Cuppens H, Olesen H, Viviani L
J Cyst Fibros
. 2014 Jan;
13(4):403-9.
PMID: 24440181
More than 1900 different mutations in the CFTR gene have been reported. These are grouped into classes according to their effect on the synthesis and/or function of the CFTR protein....
3.
Kohlmann A, Klein H, Weissmann S, Bresolin S, Chaplin T, Cuppens H, et al.
Leukemia
. 2011 Jun;
25(12):1840-8.
PMID: 21681191
Massively parallel pyrosequencing allows sensitive deep sequencing to detect molecular aberrations. Thus far, data are limited on the technical performance in a clinical diagnostic setting. Here, we investigated as an...
4.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, et al.
J Cyst Fibros
. 2011 Jun;
10 Suppl 2:S86-102.
PMID: 21658649
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane...
5.
De Boeck K, Derichs N, Fajac I, de Jonge H, Bronsveld I, Sermet I, et al.
J Cyst Fibros
. 2011 Jun;
10 Suppl 2:S53-66.
PMID: 21658643
In the majority of cases, there is no difficulty in diagnosing Cystic Fibrosis (CF). However, there may be wide variation in signs and symptoms between individuals which encourage the scientific...
6.
Castellani C, Cuppens H, Macek Jr M, Cassiman J, Kerem E, Durie P, et al.
J Cyst Fibros
. 2008 May;
7(3):179-96.
PMID: 18456578
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology,...
7.
De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, et al.
Thorax
. 2005 Dec;
61(7):627-35.
PMID: 16384879
There is great heterogeneity in the clinical manifestations of cystic fibrosis (CF). Some patients may have all the classical manifestations of CF from infancy and have a relatively poor prognosis,...
8.
Yarden J, Radojkovic D, De Boeck K, Macek Jr M, Zemkova D, Vavrova V, et al.
Thorax
. 2005 Mar;
60(4):320-5.
PMID: 15790988
Background: The pulmonary phenotype in patients with cystic fibrosis (CF), even in those with the same CF transmembrane conductance regulator (CFTR) genotype, is variable and must therefore be influenced by...
9.
Yarden J, Radojkovic D, De Boeck K, Macek Jr M, Zemkova D, Vavrova V, et al.
J Med Genet
. 2004 Aug;
41(8):629-33.
PMID: 15286159
No abstract available.
10.
Decaestecker K, Decaestecker E, Castellani C, Jaspers M, Cuppens H, De Boeck K
Eur Respir J
. 2004 Jun;
23(5):679-84.
PMID: 15176679
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G85E mutation, was investigated. Each index case was compared with two cystic fibrosis (CF) patients...