van Harssel JJ - Search Results

1

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD. Kevelam SH, et al. Among authors: van harssel jj. Am J Med Genet A. 2012 Jan;158A(1):166-73. doi: 10.1002/ajmg.a.34350. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106008

2

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.

van Harssel JJ, van Roozendaal CE, Detisch Y, Brandão RD, Paulussen AD, Zeegers M, Blok MJ, Gómez García EB. van Harssel JJ, et al. Fam Cancer. 2010 Jun;9(2):193-201. doi: 10.1007/s10689-009-9305-1. Fam Cancer. 2010. PMID: 19949876 Free PMC article.

3

Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin.

Hochstenbach R, Elferink MG, van Zon PHA, Lichtenbelt KD, van Harssel J, Schuring-Blom H, Page-Christiaens GCML. Hochstenbach R, et al. Clin Case Rep. 2018 Mar 7;6(5):788-791. doi: 10.1002/ccr3.1424. eCollection 2018 May. Clin Case Rep. 2018. PMID: 29744057 Free PMC article.

4

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.

Hochstenbach R, Page-Christiaens GC, van Oppen AC, Lichtenbelt KD, van Harssel JJ, Brouwer T, Manten GT, van Zon P, Elferink M, Kusters K, Akkermans O, Ploos van Amstel JK, Schuring-Blom GH. Hochstenbach R, et al. Among authors: van harssel jj. Case Rep Genet. 2015;2015:926545. doi: 10.1155/2015/926545. Epub 2015 Jun 7. Case Rep Genet. 2015. PMID: 26137330 Free PMC article.

5

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Telegrafi A, et al. Among authors: van harssel jjt. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777491 Free PMC article.

6

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.

7

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: van harssel jj. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116

8

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH. van Harssel JJ, et al. Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334464

9

Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case.

Hochstenbach R, Nikkels PG, Elferink MG, Oudijk MA, van Oppen C, van Zon P, van Harssel J, Schuring-Blom H, Page-Christiaens GC. Hochstenbach R, et al. Clin Case Rep. 2015 Jun;3(6):489-91. doi: 10.1002/ccr3.285. Epub 2015 Apr 29. Clin Case Rep. 2015. PMID: 26185654 Free PMC article.

10

Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.

Hol JA, Jongmans MCJ, Littooij AS, de Krijger RR, Kuiper RP, van Harssel JJT, Mensenkamp A, Simons M, Tytgat GAM, van den Heuvel-Eibrink MM, van Grotel M. Hol JA, et al. Among authors: van harssel jjt. Fam Cancer. 2020 Jan;19(1):55-63. doi: 10.1007/s10689-019-00155-3. Fam Cancer. 2020. PMID: 31792767 Free PMC article. Review.

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