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GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
Burger P, Colin F, Strehle A, Mazzucotelli T, Collot N, Coutelle R, Durand B, Bouman A, Landau Prat D, Kleefstra T, Parrend P, Piton A, Koolen DA, Mandel JL. Burger P, et al. Among authors: bouman a. J Neural Transm (Vienna). 2023 Mar;130(3):459-471. doi: 10.1007/s00702-022-02569-3. Epub 2022 Nov 27. J Neural Transm (Vienna). 2023. PMID: 36436153 Free PMC article.
The role of the gut microbiota in patients with Kleefstra syndrome.
Bloemendaal M, Vlaming P, de Boer A, Vermeulen-Kalk K, Bouman A, Kleefstra T, Arias Vasquez A. Bloemendaal M, et al. Among authors: bouman a. Am J Med Genet B Neuropsychiatr Genet. 2023 Oct-Dec;192(7-8):124-138. doi: 10.1002/ajmg.b.32926. Epub 2023 Jan 11. Am J Med Genet B Neuropsychiatr Genet. 2023. PMID: 36630271
Prevalence of testicular adrenal rest tissue in neonates.
Bouman A, Hulsbergen-van de Kaa C, Claahsen-van der Grinten HL. Bouman A, et al. Horm Res Paediatr. 2011 Feb;75(2):90-3. doi: 10.1159/000316531. Epub 2010 Jul 21. Horm Res Paediatr. 2011. PMID: 20664187
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S. Kalm T, et al. Among authors: bouman a. Am J Hum Genet. 2024 May 14:S0002-9297(24)00160-5. doi: 10.1016/j.ajhg.2024.04.019. Online ahead of print. Am J Hum Genet. 2024. PMID: 38772379
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karimi K, Mol MO, Haghshenas S, Relator R, Levy MA, Kerkhof J, McConkey H, Brooks A, Zonneveld-Huijssoon E, Gerkes EH, Tedder ML, Vissers L, Salzano E, Piccione M, Asaftei SD, Carli D, Mussa A, Shukarova-Angelovska E, Trajkova S, Brusco A, Merla G, Alders MM, Bouman A, Sadikovic B. Karimi K, et al. Among authors: bouman a. Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054406
129 results