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Page 1
Ectrodactyly with fibular aplasia: a separate entity?
Menke LA, Bijlsma EK, van Essen AJ, van den Boogaard MJ, van Rijn RR, Cobben JM. Menke LA, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):488-96. doi: 10.1016/j.ejmg.2008.04.001. Epub 2008 May 2. Eur J Med Genet. 2008. PMID: 18547886
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; DDD study; Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Menke LA, et al. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20. Am J Med Genet A. 2018. PMID: 29460469
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.
Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health.
Warnink-Kavelaars J, de Koning LE, Rombaut L, Menke LA, Alsem MW, van Oers HA, Buizer AI, Engelbert RHH, Oosterlaan J; Pediatric Heritable Connective Tissue Disorder study group. Warnink-Kavelaars J, et al. Among authors: menke la. Am J Med Genet A. 2022 Jul;188(7):2096-2109. doi: 10.1002/ajmg.a.62750. Epub 2022 Apr 8. Am J Med Genet A. 2022. PMID: 35393672 Free PMC article.
Elements of morphology: Standard terminology for the trunk and limbs.
Biesecker LG, Adam MP, Chung BH, Kosaki K, Menke LA, White SM, Carey JC, Hennekam RCM. Biesecker LG, et al. Among authors: menke la. Am J Med Genet A. 2022 Nov;188(11):3191-3228. doi: 10.1002/ajmg.a.62965. Epub 2022 Sep 5. Am J Med Genet A. 2022. PMID: 36062894 Free PMC article.
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.
Fatal gastrointestinal complications in Pitt-Hopkins syndrome.
Koppen IJN, Menke LA, Westra WM, Struik F, Mesman S, van Wijk MP, Huisman SA. Koppen IJN, et al. Among authors: menke la. Am J Med Genet A. 2023 Mar;191(3):855-858. doi: 10.1002/ajmg.a.63079. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36511359
46 results