de Boer L - Search Results

1

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. de Boer L, et al. Horm Res. 2004;62(4):197-207. doi: 10.1159/000081063. Epub 2004 Sep 24. Horm Res. 2004. PMID: 15452385 Free article.

2

Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome.

de Boer L, Hoogerbrugge CM, van Doorn J, van Buul-Offers SC, Karperien M, Wit JM. de Boer L, et al. J Pediatr Endocrinol Metab. 2004 Apr;17(4):615-27. doi: 10.1515/jpem.2004.17.4.615. J Pediatr Endocrinol Metab. 2004. PMID: 15198293

3

Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.

De Boer L, Van Duyvenvoorde HA, Willemstein-Van Hove EC, Hoogerbrugge CM, Van Doorn J, Maassen JA, Karperien M, Wit JM. De Boer L, et al. Eur J Endocrinol. 2004 Sep;151(3):333-41. doi: 10.1530/eje.0.1510333. Eur J Endocrinol. 2004. PMID: 15362962

4

Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.

de Boer L, le Cessie S, Wit JM. de Boer L, et al. Acta Paediatr. 2005 Aug;94(8):1142-4. doi: 10.1111/j.1651-2227.2005.tb02059.x. Acta Paediatr. 2005. PMID: 16188863

5

Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.

de Boer L, Röder I, Wit JM. de Boer L, et al. Dev Med Child Neurol. 2006 Jul;48(7):582-8. doi: 10.1017/S0012162206001228. Dev Med Child Neurol. 2006. PMID: 16780628 Free article.

6

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS. Mendes MI, et al. Among authors: de boer l. Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14. Hum Mutat. 2017. PMID: 28101991 Free PMC article.

7

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N. Vegas N, et al. Among authors: de boer l. Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27. Eur J Med Genet. 2018. PMID: 30268909

8

Cognitive functioning and mental health in children with a primary mitochondrial disease.

van de Loo KFE, Custers JAE, de Boer L, van Lieshout M, de Vries MC, Janssen MCH, Verhaak CM. van de Loo KFE, et al. Among authors: de boer l, de vries mc. Orphanet J Rare Dis. 2022 Oct 1;17(1):368. doi: 10.1186/s13023-022-02510-7. Orphanet J Rare Dis. 2022. PMID: 36183138 Free PMC article.

9

Depressive behaviour in children diagnosed with a mitochondrial disorder.

Morava E, Gardeitchik T, Kozicz T, de Boer L, Koene S, de Vries MC, McFarland R, Roobol T, Rodenburg RJ, Verhaak CM. Morava E, et al. Among authors: de boer l, de vries mc. Mitochondrion. 2010 Aug;10(5):528-33. doi: 10.1016/j.mito.2010.05.011. Epub 2010 May 31. Mitochondrion. 2010. PMID: 20573558

10

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J. Wong SS, et al. Among authors: de boer l. Mitochondrion. 2017 Jan;32:36-41. doi: 10.1016/j.mito.2016.11.008. Epub 2016 Nov 16. Mitochondrion. 2017. PMID: 27865797

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