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Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF. Nieuwenhuis MH, et al. Among authors: yntema hg. Fam Cancer. 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3. Fam Cancer. 2014. PMID: 23934601
A newborn with overlapping features of AEC and EEC syndromes.
Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M. Celik TH, et al. Among authors: yntema hg. Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065614
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD. Campagna DR, et al. Among authors: yntema hg. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: yntema hg. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N. Jongmans MC, et al. Among authors: yntema hg. Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407260 Free PMC article.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Vanderver A, et al. Among authors: yntema hg. Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375884 Free PMC article.
157 results