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Items: 19

1.

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.

2.

Early prenatal disruption; a foetus with features of severe limb body wall sequence, body stalk anomaly and amniotic bands.

Zeidler S, Oudesluijs GG, Schoonderwaldt EM, Van Bever Y.

Genet Couns. 2014;25(3):315-20.

PMID:
25365854
3.

Omphalocele, radial ray defect and diaphragmatic hernia: another case of Gershoni-Baruch syndrome?

Oudesluijs G.

Genet Couns. 2014;25(1):77-9. No abstract available.

PMID:
24783661
4.

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
5.

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG.

Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16.

6.

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW.

Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14.

PMID:
22893440
7.

Psychosocial aspects of preconception consultation in primary care: lessons from our experience in clinical genetics.

Riedijk S, Oudesluijs G, Tibben A.

J Community Genet. 2012 Jul;3(3):213-9. doi: 10.1007/s12687-012-0095-z. Epub 2012 May 15.

8.

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Srebniak MI, Boter M, Oudesluijs GO, Cohen-Overbeek T, Govaerts LC, Diderich KE, Oegema R, Knapen MF, van de Laar IM, Joosten M, Van Opstal D, Galjaard RJ.

Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14.

9.

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

Oudesluijs G, Simon ME, Burggraaf RH, Waterham HR, Hennekam RC.

Am J Med Genet A. 2012 Feb;158A(2):292-7. doi: 10.1002/ajmg.a.34396. Epub 2011 Dec 2.

PMID:
22140078
10.

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Srebniak MI, Boter M, Verboven-Peerden CM, Looye-Bruinsma GA, Oudesluijs G, Galjaard RJ, Van Opstal D.

Mol Cytogenet. 2011 Dec 2;4(1):27. doi: 10.1186/1755-8166-4-27.

11.

Pentalogy of Cantrell and supernumerary naris.

Oudesluijs G.

Genet Couns. 2011;22(3):305-7. No abstract available.

PMID:
22029172
12.

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ.

Eur J Hum Genet. 2011 Dec;19(12):1230-7. doi: 10.1038/ejhg.2011.119. Epub 2011 Jun 22.

13.

[Prenatally detected orofacial cleft].

Exalto N, Cohen-Overbeek TE, van Adrichem LN, Oudesluijs GG, Hoogeboom AJ, Wildschut HI.

Ned Tijdschr Geneeskd. 2009;153:B316. Review. Dutch.

PMID:
19785790
14.

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.

Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30.

15.

Mosaic isodicentric chromosome 18q: sixth report and review.

Oudesluijs GG, Hulzebos CV, Sikkema-Raddatz B, Van Essen AJ.

Genet Couns. 2006;17(4):395-400.

PMID:
17375524
16.

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P.

Am J Med Genet A. 2006 Jun 15;140(12):1257-63. Review.

PMID:
16691589
17.

Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.

Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC.

Am J Med Genet A. 2005 Aug 15;137(1):77-80. Review.

PMID:
16007632
18.

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.

Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H.

Audiol Neurootol. 2004 Jan-Feb;9(1):34-46.

PMID:
14676472
19.

Congenital conductive hearing loss in dyschondrosteosis.

De Leenheer EM, Oudesluijs GG, Kuijpers-Jagtman AM, Rappold GA, Sengers RC, Cremers CW.

Ann Otol Rhinol Laryngol. 2003 Feb;112(2):153-8.

PMID:
12597288

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