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Page 1
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Alders M, et al. Among authors: verhagen jm. Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2. Mol Syndromol. 2013. PMID: 23653581 Free PMC article.
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V. Michot C, et al. Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13. Eur J Hum Genet. 2018. PMID: 30006632 Free PMC article.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH. Herkert JC, et al. Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21. Am Heart J. 2020. PMID: 32480058 Free article.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Kerstjens-Frederikse WS, van de Laar IM, Vos YJ, Verhagen JM, Berger RM, Lichtenbelt KD, Klein Wassink-Ruiter JS, van der Zwaag PA, du Marchie Sarvaas GJ, Bergman KA, Bilardo CM, Roos-Hesselink JW, Janssen JH, Frohn-Mulder IM, van Spaendonck-Zwarts KY, van Melle JP, Hofstra RM, Wessels MW. Kerstjens-Frederikse WS, et al. Among authors: verhagen jm. Genet Med. 2016 Sep;18(9):914-23. doi: 10.1038/gim.2015.193. Epub 2016 Jan 28. Genet Med. 2016. PMID: 26820064 Free article.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Almomani R, et al. Among authors: verhagen jm. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093. J Am Coll Cardiol. 2016. PMID: 26846950 Free article.
Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.
Lieve KVV, Verhagen JMA, Wei J, Bos JM, van der Werf C, Rosés I Noguer F, Mancini GMS, Guo W, Wang R, van den Heuvel F, Frohn-Mulder IME, Shimizu W, Nogami A, Horigome H, Roberts JD, Leenhardt A, Crijns HJG, Blank AC, Aiba T, Wiesfeld ACP, Blom NA, Sumitomo N, Till J, Ackerman MJ, Chen SRW, van de Laar IMBH, Wilde AAM. Lieve KVV, et al. Among authors: verhagen jma. Heart Rhythm. 2019 Feb;16(2):220-228. doi: 10.1016/j.hrthm.2018.08.025. Epub 2018 Aug 28. Heart Rhythm. 2019. PMID: 30170228
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG. Verhagen JM, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30. Eur J Med Genet. 2011. PMID: 21839187
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. Verhagen JM, et al. Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14. Am J Med Genet A. 2012. PMID: 22893440
47 results