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Page 1
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, Bergman JEH. van de Putte R, et al. Among authors: brunner hg. Pediatr Res. 2020 Feb;87(3):541-549. doi: 10.1038/s41390-019-0561-y. Epub 2019 Sep 9. Pediatr Res. 2020. PMID: 31499513
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. Jongmans MC, et al. Among authors: brunner hg. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Marcelis CL, et al. Among authors: brunner hg. Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750. Hum Mutat. 2008. PMID: 18470948
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Oud MM, et al. Among authors: brunner hg. Am J Med Genet A. 2014 Jul;164A(7):1627-34. doi: 10.1002/ajmg.a.36501. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677454 Review.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.
Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N, van Rooij IA. Wijers CH, et al. Among authors: brunner hg. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):483-92. doi: 10.1002/bdra.23256. Epub 2014 May 20. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24841934
Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.
van de Putte R, Wijers CH, de Blaauw I, Feitz WF, Marcelis CL, Hakobjan M, Sloots CE, van Bever Y, Brunner HG, Roeleveld N, van Rooij IA, van der Zanden LF. van de Putte R, et al. Among authors: brunner hg. Eur J Pediatr. 2015 May;174(5):583-7. doi: 10.1007/s00431-014-2436-x. Epub 2014 Oct 17. Eur J Pediatr. 2015. PMID: 25319845
499 results