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54 results

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Page 1
The revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. Loeys BL, et al. Among authors: hilhorst hofstee y. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. J Med Genet. 2010. PMID: 20591885
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Schepers D, et al. Among authors: hilhorst hofstee y. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. Hum Mutat. 2018. PMID: 29392890 Free PMC article.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: hilhorst hofstee y. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947 Free PMC article.
Author Reply.
Van Den Bersselaar LM, Van De Laar IMBH, Baars MJH, Baas A, Dulfer E, Den Enden ATJMH, Hilhorst-Hofstee Y, Kauling RM, Kempers MJE, Oudijk MA, Maugeri A, Brüggenwirth HT, Houweling AC, Demirdas S. Van Den Bersselaar LM, et al. Among authors: hilhorst hofstee y. BJOG. 2026 Feb;133(3):536-537. doi: 10.1111/1471-0528.70046. Epub 2025 Oct 7. BJOG. 2026. PMID: 41058149 No abstract available.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: hilhorst hofstee y. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Nijim S, Kim M, Denish M, Gonzalez MV, Zinski J, Rieubland C, Braun D, Ostergaard E, Shillington A, Faivre L, Maraval J, Garde A, Philippe C, Tran-Mau-Them F, Crunk A; UCI GREGoR Site; Hawley M, Callewaert B, Iascone M, Cereda A, Daolio C, Hershkovitz T, Good JM, Steindl K, Frey T, Rauch A, Afenjar A, Mignot C, Agathe JS, Hollander ND, Hilhorst-Hofstee Y, Koene S, Santen G, Bijlsma EK, Berger S, Mehta L, Stoeva R, Houdayer C, Gueguen P, Faust H, Specht S, Klabunde-Cherwon A, Khelifa MM, Bergmann A, Saunders C, Krygier M, Carrasco D, Metcalfe K, Sanders SJ, Zhang DY, Judy R, Nijim W, Exposito-Alonso D, Deng CX, Kim J, Gecz J, Romano C, Skinner C, Lichty A, Linebaugh E, Skinner SA, Chahrour M, Wang T, Xia K, Guo H, Van Daele S, Van Goethem G, Fagerberg C, Graakjaer J, Anders S, Fink H, Isum Ward D, Grange DK, Strong A, Zwijnenburg P, Towne M, Feichtinger RG, Morrison J, Dagli A, Levy J, Capri Y, Spillman RC, Hart S, Shashi V, Keren B, Kleefstra T, Pfundt R, Gilissen C, Eichler EE, Brugger M, Zech M, Chung WK, Fasolino M, Dow HC, Rader DJ, Brodkin ES, Bucan M, Marsh ED, Dias C, Fajgenbaum DC. Nijim S, et al. Among authors: hilhorst hofstee y. Genet Med. 2026 Jul 7;28(10):102642. doi: 10.1016/j.gim.2026.102642. Online ahead of print. Genet Med. 2026. PMID: 42417140 Free article.
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE, Gonzalez EM, Sangree AK, Durham EL, Klinkhammer H, Li JM, Smith SM, Layo-Carris DE, Clark KJ, Melendez-Perez AJ, Wang XM, Angireddy R, Weiss EE, Barakat TS, Mercier S, Cogné B, Koene S, Hilhorst-Hofstee Y, Rydzanicz M, Ploski R, de Los Ángeles Gómez Cano M, Palomares-Bralo M, Arévalo TB, Tan TY, Gallacher L, MacFarland SP, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJK. Lubin EE, et al. Among authors: hilhorst hofstee y. HGG Adv. 2025 Jul 10;6(3):100440. doi: 10.1016/j.xhgg.2025.100440. Epub 2025 Apr 15. HGG Adv. 2025. PMID: 40241305 Free PMC article.
Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.
van den Bersselaar LM, van de Laar IMBH, Baars MJH, Baas A, Dulfer E, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kauling RM, Kempers MJE, Oudijk MA, Maugeri A, Brüggenwirth HT, Houweling AC, Demirdas S. van den Bersselaar LM, et al. Among authors: hilhorst hofstee y. BJOG. 2026 Feb;133(3):463-470. doi: 10.1111/1471-0528.18142. Epub 2025 Mar 19. BJOG. 2026. PMID: 40104886 Free PMC article.
54 results