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Page 1
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.
Lauffer P, Miranda-Laferte E, van Duyvenvoorde HA, van Haeringen A, Werner F, Boudin E, Schmidt H, Mueller TD, Kuhn M, van der Kaay DCM. Lauffer P, et al. Among authors: van duyvenvoorde ha, van haeringen a, van der kaay dcm. J Clin Endocrinol Metab. 2020 Jul 1;105(7):2354-66. doi: 10.1210/clinem/dgaa190. J Clin Endocrinol Metab. 2020. PMID: 32282051 Free PMC article.
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Lauffer P, Boudin E, van der Kaay DCM, Koene S, van Haeringen A, van Tellingen V, Van Hul W, Prickett TCR, Mortier G, Espiner EA, van Duyvenvoorde HA. Lauffer P, et al. Among authors: van duyvenvoorde ha, van haeringen a, van tellingen v, van der kaay dcm, van hul w. J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1. J Endocr Soc. 2022. PMID: 35233476 Free PMC article.
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Hilhorst-Hofstee Y, Scholte AJ, Rijlaarsdam ME, van Haeringen A, Kroft LJ, Reijnierse M, Ruivenkamp CA, Versteegh MI, Pals G, Breuning MH. Hilhorst-Hofstee Y, et al. Among authors: van haeringen a. Clin Genet. 2013 Apr;83(4):337-44. doi: 10.1111/j.1399-0004.2012.01931.x. Epub 2012 Aug 21. Clin Genet. 2013. PMID: 22803640
Severe cardiac defect in a patient with the OEIS complex.
Kant SG, Bartelings MM, Kibbelaar RE, Van Haeringen A. Kant SG, et al. Among authors: van haeringen a. Clin Dysmorphol. 1997 Oct;6(4):371-4. doi: 10.1097/00019605-199710000-00012. Clin Dysmorphol. 1997. PMID: 9354848
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Santen GW, et al. Among authors: van haeringen a, van ommen gj. Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217. Nat Genet. 2012. PMID: 22426309
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: van minderhout ij, van belzen mj, van der wielen mj, van haeringen a, van bon bw, van der lans ca. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: van haeringen a, van harssel jvt, van gassen kli, van binsbergen e. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
126 results