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Non-Linear Pharmacokinetics of Oral Roscovitine (Seliciclib) in Cystic Fibrosis Patients Chronically Infected with Pseudomonas aeruginosa : A Study on Population Pharmacokinetics with Monte Carlo Simulations.
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- Pharmaceutics, 2020, v. 12, n. 11, p. 1087, doi. 10.3390/pharmaceutics12111087
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- Publication type:
- Article
Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 11, p. 2223, doi. 10.1093/ndt/gfac027
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- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 15, p. 7913, doi. 10.1093/nar/gky372
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- Publication type:
- Article
Dépistage néonatal de la mucoviscidose.
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- Médecine Sciences, 2021, v. 37, n. 5, p. 491, doi. 10.1051/medsci/2021051
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- Publication type:
- Article
Polycystin deficiency induces dopamine-reversible alterations in flow-mediated dilatation and vascular nitric oxide release in humans.
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- Kidney International, 2015, v. 87, n. 2, p. 465, doi. 10.1038/ki.2014.241
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- Publication type:
- Article
Next-generation sequencing is a credible strategy for blood group genotyping.
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- British Journal of Haematology, 2014, v. 167, n. 4, p. 554, doi. 10.1111/bjh.13084
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- Publication type:
- Article
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of <i>PRSS1</i>, <i>SPINK1</i>, <i>CTRC</i> and <i>CFTR</i> Genes in 253 Young French Patients.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073522
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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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- Publication type:
- 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
Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.
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- Journal of Medical Screening, 2018, v. 25, n. 1, p. 6, doi. 10.1177/0969141317692611
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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
'Gain of function' PRSS1 mutations are rare in ICP.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945
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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
Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
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- Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 8, p. 1591, doi. 10.1007/s00424-013-1394-x
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- Publication type:
- Article
Intrinsic Atopic Dermatitis is Associated with a Beta-2 Adrenergic Receptor Polymorphism.
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- 2006
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- Publication type:
- Letter
Novel long-range regulatory mechanisms controlling <italic>PKD2</italic> gene expression.
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- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4892-6
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- Publication type:
- Article
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
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- Journal of Neurology, 2014, v. 261, n. 3, p. 500, doi. 10.1007/s00415-013-7224-4
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- Publication type:
- Article
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.
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- Pediatric Nephrology, 2020, v. 35, n. 6, p. 1033, doi. 10.1007/s00467-020-04480-z
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- Publication type:
- Article
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
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- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 5, p. e654, doi. 10.1111/jdv.18869
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- Publication type:
- Article
Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.
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- Transfusion, 2013, v. 53, n. 8, p. 1821, doi. 10.1111/trf.12009
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- Publication type:
- Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
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- Publication type:
- Article
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
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- 2019
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- Publication type:
- journal 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
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
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- Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
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- Publication type:
- Article
Pitfalls in the interpretation of CFTR variants in the context of incidental findings.
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- Human Mutation, 2019, v. 40, n. 12, p. 2239, doi. 10.1002/humu.23884
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- Publication type:
- Article
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
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- Human Mutation, 2017, v. 38, n. 10, p. 1297, doi. 10.1002/humu.23276
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- Publication type:
- Article
Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On.
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- Human Mutation, 2014, v. 35, n. 12, p. 1393, doi. 10.1002/humu.22708
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- Publication type:
- Article
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
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- Human Mutation, 2012, v. 33, n. 8, p. 1239, doi. 10.1002/humu.22103
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- Publication type:
- Article
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
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- Human Mutation, 2012, v. 33, n. 2, p. 456, doi. 10.1002/humu.22006
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- Publication type:
- Article
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
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- Human Mutation, 2011, v. 32, n. 8, p. 912, doi. 10.1002/humu.21511
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- Publication type:
- Article
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
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- Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196
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- Publication type:
- Article
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms.
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- Human Mutation, 2004, v. 23, n. 4, p. 343, doi. 10.1002/humu.20009
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- Publication type:
- Article