van der Burgt I - Search Results

1

Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

Croonen EA, van der Burgt I, Kapusta L, Draaisma JM. Croonen EA, et al. Among authors: van der burgt i. Am J Med Genet A. 2008 Feb 1;146A(3):350-3. doi: 10.1002/ajmg.a.32140. Am J Med Genet A. 2008. PMID: 18203203

2

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Croonen EA, Yntema HG, van Minkelen R, van den Ouweland AMW, van der Burgt I. Croonen EA, et al. Among authors: van minkelen r, van der burgt i, van den ouweland amw. Clin Dysmorphol. 2012 Oct;21(4):212-214. doi: 10.1097/MCD.0b013e3283557231. Clin Dysmorphol. 2012. PMID: 22664660 No abstract available.

3

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG. Croonen EA, et al. Among authors: van der burgt i, van de laar im. Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321623 Free PMC article.

4

External ear anomalies and hearing impairment in Noonan Syndrome.

van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC. van Trier DC, et al. Among authors: van der burgt i, van nierop j. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-878. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25862627

5

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

Croonen EA, Harmsen M, Van der Burgt I, Draaisma JM, Noordam K, Essink M, Nijhuis-van der Sanden MW. Croonen EA, et al. Among authors: van der burgt i. Am J Med Genet A. 2016 Sep;170(9):2349-56. doi: 10.1002/ajmg.a.37814. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338165

6

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

van Trier DC, Vos AM, Draaijer RW, van der Burgt I, Draaisma JM, Cruysberg JR. van Trier DC, et al. Among authors: van der burgt i. Ophthalmology. 2016 Oct;123(10):2137-46. doi: 10.1016/j.ophtha.2016.06.061. Epub 2016 Aug 9. Ophthalmology. 2016. PMID: 27521173

7

Motor performance in children with Noonan syndrome.

Croonen EA, Essink M, van der Burgt I, Draaisma JM, Noordam C, Nijhuis-van der Sanden MWG. Croonen EA, et al. Among authors: van der burgt i. Am J Med Genet A. 2017 Sep;173(9):2335-2345. doi: 10.1002/ajmg.a.38322. Epub 2017 Jun 19. Am J Med Genet A. 2017. PMID: 28627718

8

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

van Trier DC, Rinne T, Noordam K, Draaisma JM, van der Burgt I. van Trier DC, et al. Among authors: van der burgt i. Am J Med Genet A. 2017 Nov;173(11):2968-2972. doi: 10.1002/ajmg.a.38466. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884940

9

First-year growth in children with Noonan syndrome: Associated with feeding problems?

Croonen EA, Draaisma JMT, van der Burgt I, Roeleveld N, Noordam C. Croonen EA, et al. Among authors: van der burgt i. Am J Med Genet A. 2018 Apr;176(4):951-958. doi: 10.1002/ajmg.a.38649. Am J Med Genet A. 2018. PMID: 29575624

10

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

van Trier DC, van der Burgt I, Draaijer RW, Cruysberg JRM, Noordam C, Draaisma JM. van Trier DC, et al. Among authors: van der burgt i. Eur J Pediatr. 2018 Aug;177(8):1293-1298. doi: 10.1007/s00431-018-3183-1. Epub 2018 Jun 9. Eur J Pediatr. 2018. PMID: 29948256 Free PMC article.

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