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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.
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
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.
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, 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, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. Among authors: menke la. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.
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.
46 results