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Page 1
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Among authors: houweling ac. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2022 Nov 25;13(1):7276. doi: 10.1038/s41467-022-33381-y. Nat Commun. 2022. PMID: 36433938 Free PMC article. No abstract available.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC. Demirdas S, et al. Among authors: houweling ac. Circ Genom Precis Med. 2024 Apr 16:e003978. doi: 10.1161/CIRCGEN.122.003978. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38623759 Free article.
Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.
van der Heide MYC, Verstraelen TE, van Lint FHM, Bosman LP, de Brouwer R, Proost VM, van Drie E, Taha K, Zwinderman AH, Dickhoff C, Schoonderwoerd BA, Germans T, Houweling AC, Gimeno-Blanes JR, van der Zwaag PA, de Boer RA, Cox MGPJ, van Tintelen JP, Wilde AAM. van der Heide MYC, et al. Among authors: houweling ac. Europace. 2024 Mar 30;26(4):euae069. doi: 10.1093/europace/euae069. Europace. 2024. PMID: 38558121 Free PMC article.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: houweling ac. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.
Grynblat J, Bogaard HJ, Eyries M, Meyrignac O, Savale L, Jaïs X, Ghigna MR, Celant L, Meijboom L, Houweling AC, Levy M, Antigny F, Chaouat A, Cottin V, Guignabert C, Coulet F, Sitbon O, Bonnet D, Humbert M, Montani D; and the French PH Network PULMOTENSION Investigators. Grynblat J, et al. Among authors: houweling ac. Eur Respir J. 2024 Apr 4;63(4):2301634. doi: 10.1183/13993003.01634-2023. Print 2024 Apr. Eur Respir J. 2024. PMID: 38514094 Review.
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling AC, Griese M. Postma AV, et al. Among authors: houweling ac. Genet Med Open. 2023;1(1):100811. doi: 10.1016/j.gimo.2023.100811. Genet Med Open. 2023. PMID: 38230350 Free PMC article.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: houweling ac. Genet Med. 2024 Feb;26(2):101024. doi: 10.1016/j.gim.2023.101024. Epub 2023 Dec 11. Genet Med. 2024. PMID: 38085215 Free article. No abstract available.
TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.
Alaamery M, Albesher N, Alhabshan F, Barnett P, Salim Kabbani M, Chaikhouni F, Ilgun A, Mook ORF, Alsaif H, Christoffels VM, van Tintelen P, Wilde AAM, Houweling AC, Massadeh S, Postma AV. Alaamery M, et al. Among authors: houweling ac. J Cardiovasc Dev Dis. 2023 Nov 9;10(11):455. doi: 10.3390/jcdd10110455. J Cardiovasc Dev Dis. 2023. PMID: 37998513 Free PMC article.
Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.
van Riel L, van Hulst RA, van Hest L, van Moorselaar R, Boerrigter BG, Franken SM, Wolthuis R, Dubbink HJ, Marciniak SJ, Gupta N, van de Beek I, Houweling AC. van Riel L, et al. Among authors: houweling ac. Expert Rev Respir Med. 2023 Jul-Dec;17(11):1003-1008. doi: 10.1080/17476348.2023.2284375. Epub 2023 Dec 26. Expert Rev Respir Med. 2023. PMID: 37991821 Free PMC article. Review.
120 results