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Page 1
Growth of the aortic root in children and young adults with Marfan syndrome.
van Elsäcker E, Vink AS, Menke LA, Pals G, Bokenkamp R, Backx ACPM, Hilhorst-Hofstee Y, Blom NA, van der Hulst AE. van Elsäcker E, et al. Among authors: menke la. Open Heart. 2022 Dec;9(2):e002097. doi: 10.1136/openhrt-2022-002097. Open Heart. 2022. PMID: 36543362 Free PMC article.
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: menke la. 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.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P. Marsili L, et al. Among authors: menke la. Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31898322
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P, Pals G, Zwinderman AH, Postema FAM, Baars MJH, Dulfer E, Hilhorst-Hofstee Y, Houweling AC, Kempers M, Krapels IPC, van de Laar IMBH, Loeys B, Spaans AMJ, Warnink-Kavelaars J, de Waard V, Wit JM, Menke LA. Lauffer P, et al. Among authors: menke la. Am J Med Genet A. 2023 Feb;191(2):479-489. doi: 10.1002/ajmg.a.63047. Epub 2022 Nov 15. Am J Med Genet A. 2023. PMID: 36380655 Free PMC article.
Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.
Warnink-Kavelaars J, de Koning LE, van der Hulst AE, Buizer AI, Poissonnier N, Wijninga LE, Menke LA, Mosquera LM, Rombaut L, Engelbert RHH. Warnink-Kavelaars J, et al. Among authors: menke la. Eur J Pediatr. 2024 May;183(5):2421-2429. doi: 10.1007/s00431-024-05456-z. Epub 2024 Mar 11. Eur J Pediatr. 2024. PMID: 38466415 Free PMC article.
Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.
Lauffer P, Kamp GA, Menke LA, Wit JM, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children. Lauffer P, et al. Among authors: menke la. Horm Res Paediatr. 2019;91(5):293-310. doi: 10.1159/000500810. Epub 2019 Jul 12. Horm Res Paediatr. 2019. PMID: 31302655 Free article. Review.
Parenting a child with Marfan syndrome: Distress and everyday problems.
Warnink-Kavelaars J, van Oers HA, Haverman L, Buizer AI, Alsem MW, Engelbert RHH, Menke LA. Warnink-Kavelaars J, et al. Among authors: menke la. Am J Med Genet A. 2021 Jan;185(1):50-59. doi: 10.1002/ajmg.a.61906. Epub 2020 Oct 9. Am J Med Genet A. 2021. PMID: 33034422 Free PMC article.
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: menke la. 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.
46 results