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Items: 38

1.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME.

Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3.

2.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.

Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8.

3.

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.

Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.

PMID:
30391508
4.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L.

Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0.

5.

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI.

Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27.

6.

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.

Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.

7.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. No abstract available.

8.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. Mook, Olaf R [added].

9.

Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.

Govaerts LC, Smit AE, Saris JJ, VanderWerf F, Willemsen R, Bakker CE, De Zeeuw CI, Oostra BA.

Clin Genet. 2007 Aug;72(2):138-44.

PMID:
17661818
10.

Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.

Chai W, Hoedemaekers Y, van Schaik RH, van Fessem M, Garrelds IM, Saris JJ, Dooijes D, ten Cate FJ, Kofflard MM, Danser AH.

J Renin Angiotensin Aldosterone Syst. 2006 Dec;7(4):225-30.

PMID:
17318792
11.

Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II.

Saris JJ, 't Hoen PA, Garrelds IM, Dekkers DH, den Dunnen JT, Lamers JM, Jan Danser AH.

Hypertension. 2006 Oct;48(4):564-71. Epub 2006 Aug 28.

PMID:
16940215
12.

77th Scientific Sessions of the American Heart Association.

Danser AH, Saris JJ.

Expert Opin Investig Drugs. 2005 Feb;14(2):203-7.

PMID:
15757397
13.

Prorenin uptake in the heart: a prerequisite for local angiotensin generation?

Jan Danser AH, Saris JJ.

J Mol Cell Cardiol. 2002 Nov;34(11):1463-72. Review.

PMID:
12431445
14.

Prorenin-induced myocyte proliferation: no role for intracellular angiotensin II.

Saris JJ, van den Eijnden MM, Lamers JM, Saxena PR, Schalekamp MA, Danser AH.

Hypertension. 2002 Feb;39(2 Pt 2):573-7.

PMID:
11882610
15.

Prorenin accumulation and activation in human endothelial cells: importance of mannose 6-phosphate receptors.

van den Eijnden MM, Saris JJ, de Bruin RJ, de Wit E, Sluiter W, Reudelhuber TL, Schalekamp MA, Derkx FH, Danser AH.

Arterioscler Thromb Vasc Biol. 2001 Jun;21(6):911-6.

PMID:
11397696
16.

High-affinity prorenin binding to cardiac man-6-P/IGF-II receptors precedes proteolytic activation to renin.

Saris JJ, Derkx FH, De Bruin RJ, Dekkers DH, Lamers JM, Saxena PR, Schalekamp MA, Jan Danser AH.

Am J Physiol Heart Circ Physiol. 2001 Apr;280(4):H1706-15.

17.

Cardiomyocytes bind and activate native human prorenin : role of soluble mannose 6-phosphate receptors.

Saris JJ, Derkx FH, Lamers JM, Saxena PR, Schalekamp MA, Danser AH.

Hypertension. 2001 Feb;37(2 Pt 2):710-5.

PMID:
11230361
18.

Functional importance of angiotensin-converting enzyme-dependent in situ angiotensin II generation in the human forearm.

Saris JJ, van Dijk MA, Kroon I, Schalekamp MA, Danser AH.

Hypertension. 2000 Mar;35(3):764-8.

PMID:
10720592
19.

Is there a local renin-angiotensin system in the heart?

Danser AH, Saris JJ, Schuijt MP, van Kats JP.

Cardiovasc Res. 1999 Nov;44(2):252-65. Review.

PMID:
10690302
20.

Cultured neonatal rat cardiac myocytes and fibroblasts do not synthesize renin or angiotensinogen: evidence for stretch-induced cardiomyocyte hypertrophy independent of angiotensin II.

van Kesteren CA, Saris JJ, Dekkers DH, Lamers JM, Saxena PR, Schalekamp MA, Danser AH.

Cardiovasc Res. 1999 Jul;43(1):148-56.

PMID:
10536699
21.

Cellular localization and tissue distribution of polycystin-1.

Peters DJ, van de Wal A, Spruit L, Saris JJ, Breuning MH, Bruijn JA, de Heer E.

J Pathol. 1999 Aug;188(4):439-46.

PMID:
10440756
22.

Mutation detection in the repeated part of the PKD1 gene.

Roelfsema JH, Spruit L, Saris JJ, Chang P, Pirson Y, van Ommen GJ, Peters DJ, Breuning MH.

Am J Hum Genet. 1997 Nov;61(5):1044-52.

23.

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ.

Am J Hum Genet. 1997 Sep;61(3):547-55.

24.

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S.

Science. 1996 May 31;272(5266):1339-42.

PMID:
8650545
25.

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al.

Nature. 1995 Jul 27;376(6538):348-51.

PMID:
7630403
26.

A CA repeat polymorphism at D11S1383.

Saris JJ, Vossen RH, Bakker E.

Hum Mol Genet. 1994 Mar;3(3):522. No abstract available.

PMID:
8012372
27.

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.

Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Nørby S, Constantinou-Deltas CD, et al.

Nat Genet. 1993 Dec;5(4):359-62.

PMID:
8298643
28.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC.

Am J Hum Genet. 1993 Feb;52(2):249-54.

29.

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations.

Dauwerse JG, Jumelet EA, Wessels JW, Saris JJ, Hagemeijer A, Beverstock GC, van Ommen GJ, Breuning MH.

Blood. 1992 Mar 1;79(5):1299-304.

PMID:
1536953
30.

Search for the gene responsible for polycystic kidney disease and its clinical consequences.

Breuning MH, Saris JJ, Dauwerse JG, Breslau-Siderius L, Wapenaar MC, van Ommen GJ.

Adv Nephrol Necker Hosp. 1992;21:117-24. Review. No abstract available.

PMID:
1566641
31.

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Breuning MH, Snijdewint FG, Dauwerse JG, Saris JJ, Bakker E, Pearson PL, vanOmmen GJ.

J Med Genet. 1990 Oct;27(10):614-7.

32.

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Breuning MH, Snijdewint FG, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF, et al.

J Med Genet. 1990 Oct;27(10):603-13.

33.

Probe 218EP6 (D16S246) detects RFLP's close to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16.

Snijdewint FG, Saris JJ, Dauwerse JG, Breuning MH, van Ommen GJ.

Nucleic Acids Res. 1990 May 25;18(10):3108. No abstract available.

34.

A TaqI polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16.

Breuning MH, Snijdewint FG, Smits JR, Dauwerse JG, Saris JJ, van Ommen GJ.

Nucleic Acids Res. 1990 May 25;18(10):3106. No abstract available.

35.

Rapid detection of polymorphism near gene for adult polycystic kidney disease.

Saris JJ, Breuning MH, Dauwerse HG, Snijdewint FG, Top B, Fodde R, van Ommen GJ.

Lancet. 1990 May 5;335(8697):1102-3. No abstract available.

PMID:
1970405
36.

RFLP for an anonymous single copy clone at 16pter-16p13.1 [D16S127].

Breuning MH, Dauwerse JG, Saris JJ, van Ommen GJ, Pearson PL.

Nucleic Acids Res. 1989 Jul 25;17(14):5872. No abstract available.

37.

Characterization of new probes for diagnosis of polycystic kidney disease (PKD1).

Breuning MH, Verwest A, Ijdo J, Saris JJ, Keith T, Reeders ST, van Ommen GJ, Pearson PL.

Prog Clin Biol Res. 1989;305:69-75. No abstract available.

PMID:
2569743
38.

Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.

Breuning MH, Reeders ST, Brunner H, Ijdo JW, Saris JJ, Verwest A, van Ommen GJ, Pearson PL.

Lancet. 1987 Dec 12;2(8572):1359-61.

PMID:
2890952

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