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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: van haelst m, van esch h. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
Alsters SI, Goldstone AP, Buxton JL, Zekavati A, Sosinsky A, Yiorkas AM, Holder S, Klaber RE, Bridges N, van Haelst MM, le Roux CW, Walley AJ, Walters RG, Mueller M, Blakemore AI. Alsters SI, et al. Among authors: van haelst mm. PLoS One. 2015 Jun 29;10(6):e0131417. doi: 10.1371/journal.pone.0131417. eCollection 2015. PLoS One. 2015. PMID: 26120850 Free PMC article.
Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.
van der Valk ES, Kleinendorst L, Delhanty PJD, van der Voorn B, Visser JA, van Haelst MM, de Graaff LCG, Huisman M, White A, Ito S, Wakamatsu K, de Rijke YB, van den Akker ELT, Iyer AM, van Rossum EFC. van der Valk ES, et al. Among authors: van haelst mm, van rossum efc, van den akker elt, van der voorn b. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3699-e3704. doi: 10.1210/clinem/dgac342. J Clin Endocrinol Metab. 2022. PMID: 35737586 Free PMC article.
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N. Lipstein N, et al. Among authors: van empelen r, van hasselt pm, van haelst mm, van teeseling hc, van haaften g. J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13. J Clin Invest. 2017. PMID: 28192369 Free PMC article.
Management of prenatally detected trisomy 8 mosaicism.
van Haelst MM, Van Opstal D, Lindhout D, Los FJ. van Haelst MM, et al. Among authors: van opstal d. Prenat Diagn. 2001 Dec;21(12):1075-8. doi: 10.1002/pd.215. Prenat Diagn. 2001. PMID: 11746167
Drug Repurposing for Rare Diseases.
Roessler HI, Knoers NVAM, van Haelst MM, van Haaften G. Roessler HI, et al. Among authors: van haelst mm, van haaften g. Trends Pharmacol Sci. 2021 Apr;42(4):255-267. doi: 10.1016/j.tips.2021.01.003. Epub 2021 Feb 6. Trends Pharmacol Sci. 2021. PMID: 33563480 Review.
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Vos N, Oussaada SM, Cooiman MI, Kleinendorst L, Ter Horst KW, Hazebroek EJ, Romijn JA, Serlie MJ, Mannens MMAM, van Haelst MM. Vos N, et al. Among authors: van haelst mm. Curr Diab Rep. 2020 Jul 30;20(9):44. doi: 10.1007/s11892-020-01327-7. Curr Diab Rep. 2020. PMID: 32729070 Free PMC article. Review.
166 results