Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

100 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: van der smagt j. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Clinical applications of cell-free fetal DNA from maternal plasma.
Rijnders RJ, Christiaens GC, Bossers B, van der Smagt JJ, van der Schoot CE, de Haas M. Rijnders RJ, et al. Among authors: van der schoot ce, van der smagt jj. Obstet Gynecol. 2004 Jan;103(1):157-64. doi: 10.1097/01.AOG.0000103996.44503.F1. Obstet Gynecol. 2004. PMID: 14704260
Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria.
Cox MG, Nelen MR, Wilde AA, Wiesfeld AC, van der Smagt JJ, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN. Cox MG, et al. Among authors: van der smagt jj, van tintelen jp. J Cardiovasc Electrophysiol. 2008 Aug;19(8):775-81. doi: 10.1111/j.1540-8167.2008.01140.x. Epub 2008 Mar 26. J Cardiovasc Electrophysiol. 2008. PMID: 18373594
The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update.
Bosman LP, Verstraelen TE, van Lint FHM, Cox MGPJ, Groeneweg JA, Mast TP, van der Zwaag PA, Volders PGA, Evertz R, Wong L, de Groot NMS, Zeppenfeld K, van der Heijden JF, van den Berg MP, Wilde AAM, Asselbergs FW, Hauer RNW, Te Riele ASJM, van Tintelen JP; Netherlands ACM Registry. Bosman LP, et al. Neth Heart J. 2019 Oct;27(10):480-486. doi: 10.1007/s12471-019-1270-1. Neth Heart J. 2019. PMID: 30997596 Free PMC article.
Assessment of prenatal karyotypes.
van Der Smagt JJ, Beverstock GC, Breuning MH, Kanhai HH, Vandenbussche FP. van Der Smagt JJ, et al. Hum Reprod. 2000 Jan;15(1):228-30. doi: 10.1093/humrep/15.1.228. Hum Reprod. 2000. PMID: 10611220 No abstract available.
Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.
Kelich J, Aramburu T, van der Vis JJ, Showe L, Kossenkov A, van der Smagt J, Massink M, Schoemaker A, Hennekam E, Veltkamp M, van Moorsel CHM, Skordalakes E. Kelich J, et al. Among authors: van moorsel chm, van der smagt j, van der vis jj. J Exp Med. 2022 May 2;219(5):e20211681. doi: 10.1084/jem.20211681. Epub 2022 Apr 14. J Exp Med. 2022. PMID: 35420632 Free PMC article.
Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.
Bleijerveld OB, van Holten TC, Preisinger C, van der Smagt JJ, Farndale RW, Kleefstra T, Willemsen MH, Urbanus RT, de Groot PG, Heck AJ, Roest M, Scholten A. Bleijerveld OB, et al. Among authors: van holten tc, van der smagt jj. Arterioscler Thromb Vasc Biol. 2013 Jul;33(7):1538-43. doi: 10.1161/ATVBAHA.112.300916. Epub 2013 Apr 25. Arterioscler Thromb Vasc Biol. 2013. PMID: 23619296
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Groeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D. Groeneweg JA, et al. Among authors: van der heijden jf, van mil am, van der smagt jj, van tintelen jp. Heart Rhythm. 2014 Nov;11(11):2010-7. doi: 10.1016/j.hrthm.2014.07.041. Epub 2014 Jul 31. Heart Rhythm. 2014. PMID: 25087486
Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.
Cosgun B, Reinders MGHC, van Geel M, Steijlen PM, van Hout AFW, Leter EM, van der Smagt JJ, van Hagen JM, Berger LPV, Kets CM, Wagner A, Aalfs CM, Hes FJ, van der Kolk LE, Gille JJP, Mosterd K. Cosgun B, et al. Among authors: van hout afw, van der smagt jj, van hagen jm, van geel m, van der kolk le. J Am Acad Dermatol. 2020 Aug;83(2):604-607. doi: 10.1016/j.jaad.2019.07.072. Epub 2019 Jul 30. J Am Acad Dermatol. 2020. PMID: 31374299 No abstract available.
Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events.
Chaldoupi SM, Soedamah-Muthu SS, Regieli J, Werf Cv, Nelen M, van der Smagt JJ, Algra A, Hauer RN, Doevendans PA, Loh P. Chaldoupi SM, et al. Among authors: van der smagt jj. Eur J Cardiovasc Prev Rehabil. 2009 Oct;16(5):616-20. doi: 10.1097/HJR.0b013e32832da03a. Eur J Cardiovasc Prev Rehabil. 2009. PMID: 19494781
100 results