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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
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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- 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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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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- 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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- 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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- 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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- Article
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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- 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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- 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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- 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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- 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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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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- 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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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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- 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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- 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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- 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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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)
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- 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
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- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Article
Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene.
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- Journal of Nephrology (JNonline), 2023, v. 36, n. 3, p. 643, doi. 10.1007/s40620-022-01481-z
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- Article