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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 1
1998 1
1999 2
2000 1
2001 1
2004 1
2005 4
2006 10
2007 3
2008 6
2009 9
2010 14
2011 18
2012 16
2013 18
2014 9
2015 25
2016 16
2017 18
2018 15
2019 13
2020 18
2021 31
2022 30
2023 19
2024 6

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259 results

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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: mathijssen ib. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Genetic Causes of Craniosynostosis: An Update.
Goos JAC, Mathijssen IMJ. Goos JAC, et al. Among authors: mathijssen imj. Mol Syndromol. 2019 Feb;10(1-2):6-23. doi: 10.1159/000492266. Epub 2018 Aug 15. Mol Syndromol. 2019. PMID: 30976276 Free PMC article. Review.
A bibliometric overview of craniosynostosis research development.
Iping R, Cohen AM, Abdel Alim T, van Veelen MC, van de Peppel J, van Leeuwen JPTM, Joosten KFM, Mathijssen IMJ. Iping R, et al. Among authors: mathijssen imj. Eur J Med Genet. 2021 Jun;64(6):104224. doi: 10.1016/j.ejmg.2021.104224. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33866005 Free article. Review.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: mathijssen imj. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM. van Ouwerkerk AF, et al. Among authors: mathijssen ib. Circulation. 2022 Feb 22;145(8):606-619. doi: 10.1161/CIRCULATIONAHA.121.054347. Epub 2022 Feb 3. Circulation. 2022. PMID: 35113653 Free PMC article.
Cerebral cortex maldevelopment in syndromic craniosynostosis.
Wilson AT, Den Ottelander BK, Van Veelen MC, Dremmen MH, Persing JA, Vrooman HA, Mathijssen IM, Tasker RC. Wilson AT, et al. Among authors: mathijssen im. Dev Med Child Neurol. 2022 Jan;64(1):118-124. doi: 10.1111/dmcn.14984. Epub 2021 Jul 15. Dev Med Child Neurol. 2022. PMID: 34265076 Free PMC article.
Vertebral anomalies in craniofacial microsomia: a systematic review.
Renkema RW, Caron CJJM, Mathijssen IMJ, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ. Renkema RW, et al. Among authors: mathijssen imj. Int J Oral Maxillofac Surg. 2017 Oct;46(10):1319-1329. doi: 10.1016/j.ijom.2017.04.025. Epub 2017 Jun 29. Int J Oral Maxillofac Surg. 2017. PMID: 28669484 Review.
Benchmarking for craniosynostosis.
Mathijssen IM, Arnaud E. Mathijssen IM, et al. J Craniofac Surg. 2007 Mar;18(2):436-42. doi: 10.1097/scs.0b013e31802d4c6c. J Craniofac Surg. 2007. PMID: 17414298
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM. Tooze RS, et al. Among authors: mathijssen imj. Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5. Genet Med. 2023. PMID: 37154149 Free article.
Feeding difficulties in craniofacial microsomia: a systematic review.
Caron CJ, Pluijmers BI, Joosten KF, Mathijssen IM, van der Schroeff MP, Dunaway DJ, Wolvius EB, Koudstaal MJ. Caron CJ, et al. Among authors: mathijssen im. Int J Oral Maxillofac Surg. 2015 Jun;44(6):732-7. doi: 10.1016/j.ijom.2015.02.014. Epub 2015 Mar 12. Int J Oral Maxillofac Surg. 2015. PMID: 25771070 Review.
259 results