Arianne Bouman - Search Results

Year	Number of Results
2022	2
2023	5
2024	2

1

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

2

Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders.

Geertjens L, van Voorst TW, Bouman A, van Boven MA, Kleefstra T, Verhage M, Linkenkaer-Hansen K, Nadif Kasri N, Cornelisse LN, Bruining H. Geertjens L, et al. Among authors: bouman a. Genes (Basel). 2022 Feb 21;13(2):390. doi: 10.3390/genes13020390. Genes (Basel). 2022. PMID: 35205434 Free PMC article.

3

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

Bouman A, Bouwmeester RN, van Vlimmeren LA, Burger P, Mandel JL, de Vries BBA, de Kleuver M, Klein WM, Geelen JM, Koolen DA. Bouman A, et al. Am J Med Genet A. 2023 Sep;191(9):2346-2355. doi: 10.1002/ajmg.a.63334. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37350176

4

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.

Vasireddi SK, Draksler TZ, Bouman A, Kummeling J, Wheeler M, Reuter C, Srivastava S, Harris J, Fisher PG, Narayan SM, Wang PJ, Badhwar N, Kleefstra T, Perez MV. Vasireddi SK, et al. Among authors: bouman a. Europace. 2023 Dec 28;26(1):euae003. doi: 10.1093/europace/euae003. Europace. 2023. PMID: 38195854 Free PMC article.

5

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.

6

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

Morison LD, Kennis MGP, Rots D, Bouman A, Kummeling J, Palmer E, Vogel AP, Liegeois F, Brignell A, Srivastava S, Frazier Z, Milnes D, Goel H, Amor DJ, Scheffer IE, Kleefstra T, Morgan AT. Morison LD, et al. Among authors: bouman a. J Med Genet. 2024 Jan 30:jmg-2023-109702. doi: 10.1136/jmg-2023-109702. Online ahead of print. J Med Genet. 2024. PMID: 38290825

7

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.

Bouman A, Geelen JM, Kummeling J, Schenck A, van der Zwan YG, Klein WM, Kleefstra T. Bouman A, et al. Am J Med Genet A. 2024 May;194(5):e63472. doi: 10.1002/ajmg.a.63472. Epub 2023 Dec 29. Am J Med Genet A. 2024. PMID: 38155610

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