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Year Number of Results
1996 1
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2007 3
2008 6
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273 results

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Page 1
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, Salvador H, Azizi AA, Mautner V, Röhl C, Peltonen S, Stivaros S, Legius E, Oostenbrink R; ERN GENTURIS NF1 Tumour Management Guideline Group. Carton C, et al. EClinicalMedicine. 2023 Jan 13;56:101818. doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb. EClinicalMedicine. 2023. PMID: 36684394 Free PMC article. Review.
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.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study; Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. Reijnders MRF, et al. Among authors: mathijssen imj. Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861108 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.
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.
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.
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
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.
European Reference Networks: challenges and opportunities.
Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N. Tumiene B, et al. Among authors: mathijssen im. J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17. J Community Genet. 2021. PMID: 33733400 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.
273 results