Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 210

1.

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.

Liehr T, Carreira IM, Balogh Z, Garrido ED, Verdorfer I, Coviello DA, Florentin L, Scheffer H, Rincic M, Williams HE.

Eur J Hum Genet. 2019 Aug;27(8):1168-1174. doi: 10.1038/s41431-019-0379-4. Epub 2019 Mar 28.

PMID:
30923334
2.

Genotype-Guided Thiopurine Dosing Does not Lead to Additional Costs in Patients With Inflammatory Bowel Disease.

Sluiter RL, Van Marrewijk C, De Jong D, Scheffer H, Guchelaar HJ, Derijks L, Wong DR, Hooymans P, Vermeulen SH, Verbeek ALM, Franke B, Van der Wilt GJ, Kievit W, Coenen MJH.

J Crohns Colitis. 2019 Jul 25;13(7):838-845. doi: 10.1093/ecco-jcc/jjz009.

PMID:
30698675
3.

Locally Advanced Pancreatic Cancer: A Review of Local Ablative Therapies.

Ruarus A, Vroomen L, Puijk R, Scheffer H, Meijerink M.

Cancers (Basel). 2018 Jan 10;10(1). pii: E16. doi: 10.3390/cancers10010016. Review.

4.

Patients' beliefs about medicine are associated with early thiopurine discontinuation in patients with inflammatory bowel diseases.

Broekman MMTJ, Coenen MJH, Wanten GJ, van Marrewijk CJ, Kievit W, Klungel OH, Verbeek ALM, Wong DR, Hooymans PM, Guchelaar HJ, Scheffer H, Derijks LJJ, Bouvy ML, de Jong DJ.

Eur J Gastroenterol Hepatol. 2018 Feb;30(2):167-173. doi: 10.1097/MEG.0000000000001025.

5.

Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype.

Broekman MMTJ, Coenen MJH, Wanten GJ, van Marrewijk CJ, Klungel OH, Verbeek ALM, Hooymans PM, Guchelaar HJ, Scheffer H, Derijks LJJ, Wong DR, de Jong DJ.

Aliment Pharmacol Ther. 2017 Nov;46(10):953-963. doi: 10.1111/apt.14323. Epub 2017 Sep 15.

6.

More Dose-dependent Side Effects with Mercaptopurine over Azathioprine in IBD Treatment Due to Relatively Higher Dosing.

Broekman MMTJ, Coenen MJH, van Marrewijk CJ, Wanten GJA, Wong DR, Verbeek ALM, Klungel OH, Hooymans PM, Guchelaar HJ, Scheffer H, Derijks LJJ, de Jong DJ; TOPIC Recruitment Team.

Inflamm Bowel Dis. 2017 Oct;23(10):1873-1881. doi: 10.1097/MIB.0000000000001163.

7.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

8.

Critical points for an accurate human genome analysis.

White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT.

Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Review.

PMID:
28471515
9.

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M.

Eur J Hum Genet. 2017 May;25(5):515-519. doi: 10.1038/ejhg.2017.25. Epub 2017 Mar 8.

10.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG.

Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22.

11.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.168. No abstract available.

12.

The glutathione transferase Mu null genotype leads to lower 6-MMPR levels in patients treated with azathioprine but not with mercaptopurine.

Broekman MMTJ, Wong DR, Wanten GJA, Roelofs HM, van Marrewijk CJ, Klungel OH, Verbeek ALM, Hooymans PM, Guchelaar HJ, Scheffer H, Derijks LJJ, Coenen MJH, de Jong DJ.

Pharmacogenomics J. 2018 Jan;18(1):160-166. doi: 10.1038/tpj.2016.87. Epub 2017 Jan 3.

PMID:
28045129
13.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.

Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.

14.

Early prediction of thiopurine-induced hepatotoxicity in inflammatory bowel disease.

Wong DR, Coenen MJ, Derijks LJ, Vermeulen SH, van Marrewijk CJ, Klungel OH, Scheffer H, Franke B, Guchelaar HJ, de Jong DJ, Engels LG, Verbeek AL, Hooymans PM; TOPIC Recruitment Team.

Aliment Pharmacol Ther. 2017 Feb;45(3):391-402. doi: 10.1111/apt.13879. Epub 2016 Dec 12.

15.

Guidelines for diagnostic next-generation sequencing.

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P.

Eur J Hum Genet. 2016 Oct;24(10):1515. doi: 10.1038/ejhg.2016.63. No abstract available.

16.

Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease.

Wong DR, Coenen MJ, Vermeulen SH, Derijks LJ, van Marrewijk CJ, Klungel OH, Scheffer H, Franke B, Guchelaar HJ, de Jong DJ, Engels LG, Verbeek AL, Hooymans PM; TOPIC recruitment team.

J Crohns Colitis. 2017 Feb;11(2):175-184. doi: 10.1093/ecco-jcc/jjw130. Epub 2016 Jul 9.

PMID:
27402913
17.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11. Erratum in: Eur J Hum Genet. 2017 Feb;25(3):393-0.

18.

No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome.

van Vliet J, Verrips A, Tieleman AA, Scheffer H, Cats HA, den Broeder AA, van Engelen BG.

Neuromuscul Disord. 2016 Jun;26(6):370-3. doi: 10.1016/j.nmd.2016.03.009. Epub 2016 Apr 6.

PMID:
27132119
19.

Guidelines for diagnostic next-generation sequencing.

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics.

Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Erratum in: Eur J Hum Genet. 2016 Oct;24(10):1515.

20.

A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Kwon KY, Huh K, Eun BL, Yoo HW, Kamsteeg EJ, Scheffer H, Koh SB.

Can J Neurol Sci. 2015 Jul;42(4):271-3. doi: 10.1017/cjn.2015.38. No abstract available.

PMID:
26153042

Supplemental Content

Loading ...
Support Center