Geraedts JP - Search Results

1

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.

Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: geraedts jp. J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18. J Inherit Metab Dis. 2004. PMID: 14970745

2

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

Jacobs LJ, de Coo IF, Nijland JG, Galjaard RJ, Los FJ, Schoonderwoerd K, Niermeijer MF, Geraedts JP, Scholte HR, Smeets HJ. Jacobs LJ, et al. Among authors: geraedts jp. Mol Hum Reprod. 2005 Mar;11(3):223-8. doi: 10.1093/molehr/gah152. Epub 2005 Feb 11. Mol Hum Reprod. 2005. PMID: 15709156

3

The transmission of OXPHOS disease and methods to prevent this.

Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: geraedts jp. Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. doi: 10.1093/humupd/dmi042. Epub 2005 Sep 30. Hum Reprod Update. 2006. PMID: 16199488 Review.

4

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, Chinnery PF, Smeets HJ. Hellebrekers DM, et al. Among authors: geraedts jp. Hum Reprod Update. 2012 Jul;18(4):341-9. doi: 10.1093/humupd/dms008. Epub 2012 Mar 28. Hum Reprod Update. 2012. PMID: 22456975 Review.

5

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

Jacobs L, Gerards M, Chinnery P, Dumoulin J, de Coo I, Geraedts J, Smeets H. Jacobs L, et al. Mol Hum Reprod. 2007 Mar;13(3):149-54. doi: 10.1093/molehr/gal112. Epub 2007 Jan 26. Mol Hum Reprod. 2007. PMID: 17259224

6

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.

Sallevelt SC, Dreesen JC, Drüsedau M, Spierts S, Coonen E, van Tienen FH, van Golde RJ, de Coo IF, Geraedts JP, de Die-Smulders CE, Smeets HJ. Sallevelt SC, et al. Among authors: geraedts jp. J Med Genet. 2013 Feb;50(2):125-32. doi: 10.1136/jmedgenet-2012-101172. J Med Genet. 2013. PMID: 23339111

7

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.

Jongbloed RJ, Marcelis CL, Doevendans PA, Schmeitz-Mulkens JM, Van Dockum WG, Geraedts JP, Smeets HJ. Jongbloed RJ, et al. Among authors: geraedts jp. J Am Coll Cardiol. 2003 Mar 19;41(6):981-6. doi: 10.1016/s0735-1097(02)03005-x. J Am Coll Cardiol. 2003. PMID: 12651045 Free article.

8

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H. Jongbloed R, et al. Hum Mutat. 2002 Nov;20(5):382-91. doi: 10.1002/humu.10131. Hum Mutat. 2002. PMID: 12402336

9

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Sallevelt SC, Dreesen JC, Drüsedau M, Hellebrekers DM, Paulussen AD, Coonen E, van Golde RJ, Geraedts JP, Gianaroli L, Magli MC, Zeviani M, Smeets HJ, de Die-Smulders CE. Sallevelt SC, et al. Among authors: geraedts jp. Hum Reprod. 2017 Mar 1;32(3):698-703. doi: 10.1093/humrep/dew356. Hum Reprod. 2017. PMID: 28122886

10

Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis.

Dreesen JC, Jacobs LJ, Bras M, Herbergs J, Dumoulin JC, Geraedts JP, Evers JL, Smeets HJ. Dreesen JC, et al. Among authors: geraedts jp. Mol Hum Reprod. 2000 May;6(5):391-6. doi: 10.1093/molehr/6.5.391. Mol Hum Reprod. 2000. PMID: 10775641

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

229 results

Search Page

Filters