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Up‐to‐date incidence and initial characteristics of cystic fibrosis in Tunisia.
- Published in:
- Pediatric Pulmonology, 2022, v. 57, n. 10, p. 2540, doi. 10.1002/ppul.26032
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- Article
Prevalence of HFE‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection.
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- Alimentary Pharmacology & Therapeutics, 2022, v. 55, n. 8, p. 1016, doi. 10.1111/apt.16775
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- Article
Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.
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- Transfusion Medicine & Hemotherapy, 2015, v. 42, n. 6, p. 372, doi. 10.1159/000382086
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- Article
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132972
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- Article
Evidence for the High Importance of Co-Morbid Factors in <i>HFE</i> C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study.
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- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081128
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- Article
HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients.
- Published in:
- 2015
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- Publication type:
- Letter
Association of rare chymotrypsinogen C ( CTRC) gene variations in patients with idiopathic chronic pancreatitis.
- Published in:
- Human Genetics, 2008, v. 123, n. 1, p. 83, doi. 10.1007/s00439-007-0459-3
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- Article
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
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- Human Genetics, 2007, v. 122, n. 5, p. 467, doi. 10.1007/s00439-007-0420-5
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- Article
Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.
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- Human Genetics, 2003, v. 113, n. 3, p. 280, doi. 10.1007/s00439-003-0962-0
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- Article
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
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- Human Genetics, 2002, v. 111, n. 3, p. 247, doi. 10.1007/s00439-002-0788-1
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- Publication type:
- Article
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201306
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- Publication type:
- Article
Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic...
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- European Journal of Human Genetics, 2002, v. 10, n. 2, p. 100
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- Publication type:
- Article
Intrinsic Atopic Dermatitis is Associated with a Beta-2 Adrenergic Receptor Polymorphism.
- Published in:
- 2006
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- Publication type:
- Letter
HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.
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- Advances in Hematology, 2009, v. 2009, p. 1, doi. 10.1155/2009/251701
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- Publication type:
- Article
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
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- American Journal of Hematology, 2017, v. 92, n. 12, p. E664, doi. 10.1002/ajh.24912
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- Article
Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 1, p. 21, doi. 10.1002/pd.2866
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- Publication type:
- Article
Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France).
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- Prenatal Diagnosis, 2008, v. 28, n. 3, p. 197, doi. 10.1002/pd.1910
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- Publication type:
- Article
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1913, doi. 10.1093/hmg/ddh206
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- Publication type:
- Article
The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.
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- Genes, 2020, v. 11, n. 6, p. 589, doi. 10.3390/genes11060589
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- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #629 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #629 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Publication type:
- Article
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
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- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0187266
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- Article
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
- Published in:
- 2018
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- Publication type:
- journal article
Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-24
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- Publication type:
- Article