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Page 1
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.
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. 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.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: van der smagt jj. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.
Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB, McMahon R, van Der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER. Hes FJ, et al. Among authors: van der smagt jj, van der luijt rb. J Med Genet. 2000 Dec;37(12):939-43. doi: 10.1136/jmg.37.12.939. J Med Genet. 2000. PMID: 11106358 Free PMC article.
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM, Jansen SMA, Alsters SIM, Post MC, van der Smagt JJ, Handoko-De Man FS, van Tintelen JP, Gille H, Christiaans I, Vonk Noordegraaf A, Bogaard H, Houweling AC. van den Heuvel LM, et al. Among authors: van der smagt jj, van tintelen jp. Genes (Basel). 2020 Oct 13;11(10):1191. doi: 10.3390/genes11101191. Genes (Basel). 2020. PMID: 33066286 Free PMC article.
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP. Bhuiyan ZA, et al. Circ Cardiovasc Genet. 2009 Oct;2(5):418-27. doi: 10.1161/CIRCGENETICS.108.839829. Epub 2009 Aug 1. Circ Cardiovasc Genet. 2009. PMID: 20031616
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF. Hoedemaekers YM, et al. Among authors: van der smagt jj. Circ Cardiovasc Genet. 2010 Jun;3(3):232-9. doi: 10.1161/CIRCGENETICS.109.903898. Epub 2010 Jun 8. Circ Cardiovasc Genet. 2010. PMID: 20530761
98 results