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Autosomal dominant polycystic kidney disease : modification of disease progressionPETERS, Dorien J. M; BREUNING, Martijn H.Lancet (British edition). 2001, Vol 358, Num 9291, pp 1439-1444, issn 0140-6736Article

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeDAUWERSE, Johannes G; DIXON, Jill; ZWEIER, Christiane et al.Nature genetics. 2011, Vol 43, Num 1, pp 20-22, issn 1061-4036, 3 p.Article

Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney diseaseHANG LE, Ngoc; VAN DER WAL, Annemieke; VAN DER BENT, Paola et al.Journal of the American Society of Nephrology. 2005, Vol 16, Num 9, pp 2724-2731, issn 1046-6673, 8 p.Article

Two Adults With Rubinstein-Taybi Syndrome With Mild Mental Retardation, Glaucoma, Normal Growth and Skull Circumference, and Camptodactyly of Third FingersWIECZOREK, Dagmar; BARTSCH, Oliver; LECHNO, Stanislav et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2849-2854, issn 1552-4825, 6 p.Article

Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cellsSCHEFFERS, Martijn S; HANG LE; VAN DER BENT, Paola et al.Human molecular genetics (Print). 2002, Vol 11, Num 1, pp 59-67, issn 0964-6906Article

Genomic organization and mutation screening of the human ortholog of Pkdrl associated with polycystic kidney disease in the ratKAISAKI, Pamela J; BERGMANN, Carsten; BROWN, Joanna H et al.European journal of medical genetics. 2008, Vol 51, Num 4, pp 325-331, issn 1769-7212, 7 p.Article

Lowering of Pkd1 expression is sufficient to cause polycystic kidney diseaseLANTINGA-VAN LEEUWEN, Irma S; DAUWERSE, Johannes G; PETERS, Dorien J. M et al.Human molecular genetics (Print). 2004, Vol 13, Num 24, pp 3069-3077, issn 0964-6906, 9 p.Article

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndromeKALKHOVEN, Eric; ROELFSEMA, Jeroen H; TEUNISSEN, Hans et al.Human molecular genetics (Print). 2003, Vol 12, Num 4, pp 441-450, issn 0964-6906, 10 p.Article

Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKDLIU, Michelle; SHI, Sally; PIERIDES, Alkis et al.Journal of the American Society of Nephrology. 2010, Vol 21, Num 9, pp 1510-1520, issn 1046-6673, 11 p.Article

Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regionsLANTINGA-VAN LEEUWEN, Irma S; LEONHARD, Wouter N; DAUWERSE, Hans et al.European journal of human genetics. 2005, Vol 13, Num 5, pp 649-659, issn 1018-4813, 11 p.Article

Genetic heterogeneity in rubinstein-taybi syndrome : Mutations in both the CBP and EP300 genes cause diseaseROELFSEMA, Jeroen H; WHITE, Stefan J; HENNEKAM, Raoul C et al.American journal of human genetics. 2005, Vol 76, Num 4, pp 572-580, issn 0002-9297, 9 p.Article

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)LOSEKOOT, Monique; HAARLOO, Cathleen; RUIVENKAMP, Claudia et al.Human genetics. 2005, Vol 118, Num 2, pp 185-206, issn 0340-6717, 22 p.Article

Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cellsSCHEFFERS, Martijn S; VAN DER BENT, Paola; PRINS, Frans et al.Human molecular genetics (Print). 2000, Vol 9, Num 18, pp 2743-2750, issn 0964-6906Article

Dose-Dependent Effects of Sirolimus on mTOR Signaling and Polycystic Kidney DiseaseNOVALIC, Zlata; DER WAL, Annemieke M. Van; LEONHARD, Wouter N et al.Journal of the American Society of Nephrology. 2012, Vol 23, Num 5, pp 842-853, issn 1046-6673, 12 p.Article

Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion modelLEONHARD, Wouter N; VAN DER WAL, Annemieke; NOVALIC, Zlata et al.American journal of physiology. Renal physiology. 2011, Vol 69, Num 5, issn 1931-857X, F1193-F1202Article

In silico discovery and experimental validation of new protein-protein interactionsVAN HAAGEN, Herman H. H. B. M; 'T HOEN, Peter A. C; DE MORREE, Antoine et al.Proteomics (Weinheim. Print). 2011, Vol 11, Num 5, pp 843-853, issn 1615-9853, 11 p.Article

Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathwaysHAPPE, Hester; LEONHARD, Wouter N; VAN DER WAL, Annemieke et al.Human molecular genetics (Print). 2009, Vol 18, Num 14, pp 2532-2542, issn 0964-6906, 11 p.Article

Genetic heterogeneity in Rubinstein-Taybi syndrome : delineation of the phenotype of the first patients carrying mutations in EP300BARTHOLDI, Deborah; ROELFSEMA, Jeroen H; PAPADIA, Francesco et al.Journal of medical genetics. 2007, Vol 44, Num 5, pp 327-333, issn 0022-2593, 7 p.Article

Rationale and Design of the DIPAK 1 Study: A Randomized Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in Autosomal Dominant Polycystic Kidney DiseaseMEIJER, Esther; DRENTH, Joost P. H; SPITHOVEN, Edwin M et al.American journal of kidney diseases. 2014, Vol 63, Num 3, pp 446-455, issn 0272-6386, 10 p.Article

Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney diseaseBOERTIEN, Wendy E; MEIJER, Esther; GANSEVOORT, Ron T et al.Nephrology, dialysis, transplantation (Print). 2012, Vol 27, Num 11, pp 4131-4137, issn 0931-0509, 7 p.Article

Association of Urinary Biomarkers With Disease Severity in Patients With Autosomal Dominant Polycystic Kidney Disease: A Cross-sectional AnalysisMEIJER, Esther; BOERTIEN, Wendy E; DE JONG, Paul E et al.American journal of kidney diseases. 2010, Vol 56, Num 5, pp 883-895, issn 0272-6386, 13 p.Article

A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic FeaturesDAUWERSE, Johannes G; RUIVENKAMP, Claudia A; HANSSON, Kerstin et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 2, pp 427-433, issn 1552-4825, 7 p.Article

Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse modelHASSANE, Sabrine; CLAIJ, Nanna; LANTINGA-VAN LEEUWEN, Irma S et al.Arteriosclerosis, thrombosis, and vascular biology. 2007, Vol 27, Num 10, pp 2177-2183, issn 1079-5642, 7 p.Article

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndromeDAUWERSE, Johannes G; DE VRIES, Bert B. A; WOUTERS, Cokkie H et al.European journal of human genetics. 2007, Vol 15, Num 7, pp 743-751, issn 1018-4813, 9 p.Article

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult miceLANTINGA-VAN LEEUWEN, Irma S; LEONHARD, Wouter N; VAN DER WAL, Annemieke et al.Human molecular genetics (Print). 2007, Vol 16, Num 24, pp 3188-3196, issn 0964-6906, 9 p.Article

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