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Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al.
van Riel L, Jansen PR, Boerrigter BG, van Moorselaar RJA, van Haelst MM, Wolthuis RMF, van de Beek I, Houweling AC. van Riel L, et al. Among authors: van haelst mm, van moorselaar rja, van de beek i. Genet Med. 2023 Jan;25(1):158-160. doi: 10.1016/j.gim.2022.08.033. Epub 2022 Nov 16. Genet Med. 2023. PMID: 36383210 Free article. No abstract available.
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.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D. Kuechler A, et al. Hum Genet. 2015 Jan;134(1):97-109. doi: 10.1007/s00439-014-1498-1. Epub 2014 Oct 19. Hum Genet. 2015. PMID: 25326669
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium; Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Martin-Brevet S, et al. Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27. Biol Psychiatry. 2018. PMID: 29778275 Free article.
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, Menten B. Vergult S, et al. Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105367 Free PMC article.
Non-invasive sources of cells with primary cilia from pediatric and adult patients.
Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH. Ajzenberg H, et al. Among authors: van rooij ia, van haelst mm. Cilia. 2015 Jun 1;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015. Cilia. 2015. PMID: 26034581 Free PMC article.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.
Mul JD, Begg DP, Alsters SI, van Haaften G, Duran KJ, D'Alessio DA, le Roux CW, Woods SC, Sandoval DA, Blakemore AI, Cuppen E, van Haelst MM, Seeley RJ. Mul JD, et al. Among authors: van haelst mm, van haaften g. Am J Physiol Endocrinol Metab. 2012 Jul 1;303(1):E103-10. doi: 10.1152/ajpendo.00159.2012. Epub 2012 Apr 24. Am J Physiol Endocrinol Metab. 2012. PMID: 22535749 Free PMC article.
153 results