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Items: 23

1.

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.

Stoof SCM, Kersseboom R, de Vries FAT, Kruip MJHA, Kievit AJA, Leebeek FWG.

Mol Genet Genomic Med. 2018 Nov;6(6):1220-1224. doi: 10.1002/mgg3.425. Epub 2018 Sep 27.

2.

Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.

de Wit MC, Boekhorst F, Mancini GM, Smit LS, Groenenberg IAL, Dudink J, de Vries FAT, Go ATJI, Galjaard RJH.

Prenat Diagn. 2017 Dec;37(12):1191-1197. doi: 10.1002/pd.5158. Epub 2017 Dec 3.

PMID:
28921563
3.

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.

Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, Boter M, Kromosoeto JNR, van Hassel DACM, Huijbregts G, van IJcken WFJ, Heydanus R, Dijkman A, Toolenaar T, de Vries FAT, Knijnenburg J, Go ATJI, Galjaard RH, Van Opstal D.

Hum Mutat. 2017 Jul;38(7):880-888. doi: 10.1002/humu.23232. Epub 2017 May 30.

PMID:
28409863
4.

Clinical experience of unexpected findings in prenatal array testing.

Joosten M, Diderich KE, Van Opstal D, Govaerts LC, Riedijk SR, Prinsen AK, De Vries FA, Go AT, Galjaard RJ, Srebniak MI.

Biomark Med. 2016 Aug;10(8):831-40. doi: 10.2217/bmm-2016-0054. Epub 2016 Jul 14.

PMID:
27414702
5.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

6.

Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks.

de Wit MC, Srebniak MI, Joosten M, Govaerts LC, Kornelisse RF, Papatsonis DN, de Graaff K, Knapen MF, Bruggenwirth HT, de Vries FA, Van Veen S, Van Opstal D, Galjaard RJ, Go AT.

Ultrasound Obstet Gynecol. 2017 Mar;49(3):342-348. doi: 10.1002/uog.15949.

7.

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, Berger LP, Lequin MH, de Vries FA, Wilke M, van Slegtenhorst MA.

Neurology. 2016 Mar 1;86(9):877-8. doi: 10.1212/WNL.0000000000002422. Epub 2016 Feb 3. No abstract available.

PMID:
26843564
8.

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

Srebniak MI, Diderich KE, Joosten M, Govaerts LC, Knijnenburg J, de Vries FA, Boter M, Lont D, Knapen MF, de Wit MC, Go AT, Galjaard RJ, Van Opstal D.

Eur J Hum Genet. 2016 May;24(5):645-51. doi: 10.1038/ejhg.2015.193. Epub 2015 Sep 2.

9.

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

Srebniak MI, Govaerts LC, Diderich KE, Joosten M, de Vries FA, Galjaard RJ, Van Opstal D.

Genet Med. 2016 Apr;18(4):307-8. doi: 10.1038/gim.2015.95. Epub 2015 Jul 9. No abstract available.

PMID:
26158230
10.

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis.

Srebniak MI, Van Opstal D, Joosten M, Diderich KE, de Vries FA, Riedijk S, Knapen MF, Go AT, Govaerts LC, Galjaard RJ.

Ultrasound Obstet Gynecol. 2015 Apr;45(4):363-72. doi: 10.1002/uog.14745. No abstract available.

11.

SNP array detects chromosome aberrations that we thought do not exist: the first case of an isochromosome Xp (i(X)(p10)).

Srebniak MI, Bos MJ, de Vries FA, Heydanus R, Wessels MW, Van Opstal D.

Prenat Diagn. 2014 Aug;34(8):806-8. doi: 10.1002/pd.4364. Epub 2014 Apr 27. No abstract available.

PMID:
24676867
12.

Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype.

Srebniak MI, Diderich KE, Noomen P, Dijkman A, de Vries FA, van Opstal D.

Ultrasound Obstet Gynecol. 2014 Jul;44(1):109-11. doi: 10.1002/uog.13334. Epub 2014 Jun 1.

13.

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

Riedijk S, Diderich KE, van der Steen SL, Govaerts LC, Joosten M, Knapen MF, de Vries FA, van Opstal D, Tibben A, Galjaard RJ.

J Clin Med. 2014 Jul 3;3(3):713-23. doi: 10.3390/jcm3030713. Review.

14.

Another rare prenatal case of post-zygotic mosaic trisomy 17.

de Vries FA, Govaerts LC, Knijnenburg J, Knapen MF, Oudesluijs GG, Lont D, Noomen P, de Graaff K, Srebniak MI, Van Opstal D.

Am J Med Genet A. 2013 May;161A(5):1196-9. doi: 10.1002/ajmg.a.35867. Epub 2013 Mar 20. No abstract available.

PMID:
23512336
15.

Schizosaccharomyces pombe Rad22A and Rad22B have similar biochemical properties and form multimeric structures.

de Vries FA, Zonneveld JB, de Groot AJ, Koning RI, van Zeeland AA, Pastink A.

Mutat Res. 2007 Feb 3;615(1-2):143-52. Epub 2006 Dec 16.

PMID:
17208257
16.

Inactivation of RAD52 aggravates RAD54 defects in mice but not in Schizosaccharomyces pombe.

de Vries FA, Zonneveld JB, van Duijn-Goedhart A, Roodbergen M, Boei J, van Buul PP, Essers J, van Steeg H, van Zeeland AA, van Benthem J, Pastink A.

DNA Repair (Amst). 2005 Sep 28;4(10):1121-8.

PMID:
16009599
17.

Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation.

de Vries FA, de Boer E, van den Bosch M, Baarends WM, Ooms M, Yuan L, Liu JG, van Zeeland AA, Heyting C, Pastink A.

Genes Dev. 2005 Jun 1;19(11):1376-89.

18.

Differential expression and requirements for Schizosaccharomyces pombe RAD52 homologs in DNA repair and recombination.

van den Bosch M, Zonneveld JB, Vreeken K, de Vries FA, Lohman PH, Pastink A.

Nucleic Acids Res. 2002 Mar 15;30(6):1316-24.

20.

Studies on in vitro transformation by DNA and DNA fragments of human adenoviruses and simian virus 40.

Graham FL, Abrahams PJ, Mulder C, Heijneker HL, Warnaar SO, De Vries FA, Fiers W, Van Der Eb AJ.

Cold Spring Harb Symp Quant Biol. 1975;39 Pt 1:637-50. No abstract available.

PMID:
169096
21.

An analysis of replication errors made by a defective T4 DNA polymerase.

de Vries FA, Swart-Idenburg CJ, de Waard A.

Mol Gen Genet. 1972;117(1):60-71. No abstract available.

PMID:
4560677
22.

Reversion of an amber mutant by mutagenic DNA polymerase of bacteriophage Tr.

de Vries FA, Idenburg CJ, de Waard A.

Mutat Res. 1971 Apr;11(4):438-40. No abstract available.

PMID:
5111495
23.

Prevention of the bone-marrow syndrome in irradiated mice. A comparison of the results after bone-marrow shielding and bone-marrow inoculation.

de Vries FA, Vos O.

Int J Radiat Biol Relat Stud Phys Chem Med. 1966;11(3):235-43. No abstract available.

PMID:
5334906

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