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Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.
Quarrell OW, Rigby AS, Barron L, Crow Y, Dalton A, Dennis N, Fryer AE, Heydon F, Kinning E, Lashwood A, Losekoot M, Margerison L, McDonnell S, Morrison PJ, Norman A, Peterson M, Raymond FL, Simpson S, Thompson E, Warner J. Quarrell OW, et al. Among authors: losekoot m. J Med Genet. 2007 Mar;44(3):e68. doi: 10.1136/jmg.2006.045120. J Med Genet. 2007. PMID: 17361007 Free PMC article.
Predictability of age at onset in Huntington disease in the Dutch population.
Maat-Kievit A, Losekoot M, Zwinderman K, Vegter-van der Vlis M, Belfroid R, Lopez F, Van Ommen GJ, Breuning M, Roos R. Maat-Kievit A, et al. Among authors: losekoot m. Medicine (Baltimore). 2002 Jul;81(4):251-9. doi: 10.1097/00005792-200207000-00001. Medicine (Baltimore). 2002. PMID: 12169880 Free article. No abstract available.
Clinical characteristics and response to growth hormone treatment in 27 children with heterozygous NPR2 variants: real-world data.
Renes JS, Reedijk AMJ, Hokken-Koelega ACS, Hendriks YMC, Bakker B, Boot AM, van Setten PA, van der Kaay DCM, van Duyvenvoorde HA, Nievelstein RAJ, Losekoot M, de Bruin C. Renes JS, et al. Among authors: losekoot m. J Clin Endocrinol Metab. 2025 May 27:dgaf309. doi: 10.1210/clinem/dgaf309. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40424589
Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.
Punt LD, Kooijman S, Mutsters NJM, Yue K, van der Kaay DCM, van Tellingen V, Bakker-van Waarde WM, Boot AM, van den Akker ELT, van Boekholt AA, de Groote K, Kruijsen AR, van Nieuwaal-van Maren NHG, Woltering MC, Heijligers M, van der Heyden JC, Bannink EMN, Rinne T, Hannema SE, de Waal WJ, Delemarre LC, Rensen PCN, de Bruin C, van Duyvenvoorde HA, Visser JA, Delhanty PJD, Losekoot M, Wit JM, Joustra SD. Punt LD, et al. Among authors: losekoot m. J Clin Endocrinol Metab. 2025 Apr 22;110(5):e1303-e1314. doi: 10.1210/clinem/dgaf010. J Clin Endocrinol Metab. 2025. PMID: 39785833 Free PMC article.
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.
Punt LD, van der Kaay DCM, van Setten PA, de Groote K, Kruijsen AR, Bocca G, de Munnik SA, Renes JS, de Bruin C, Losekoot M, van Duyvenvoorde HA, Wit JM, Joustra SD. Punt LD, et al. Among authors: losekoot m. Horm Res Paediatr. 2024 Jun 28:1-11. doi: 10.1159/000540053. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38952118 Free article.
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD, Isik E, Wit JM, Catli G, Anik A, Haliloglu B, Kandemir N, Ozsu E, Hendriks YMC, de Bruin C, Kant SG, Campos-Barros A, Challis RC, Parry D, Harley ME, Jackson A, Losekoot M, van Duyvenvoorde HA. Joustra SD, et al. Among authors: losekoot m. Horm Res Paediatr. 2024 Jun 5:1-11. doi: 10.1159/000539696. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38838658 Free PMC article.
142 results