van Ravenswaaij-Arts CM - Search Results

1

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.

2

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. Hofstra RM, et al. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.

3

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM. Bergman JE, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):417-25. doi: 10.1016/j.ejmg.2008.03.003. Epub 2008 Apr 4. Eur J Med Genet. 2008. PMID: 18472328

4

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH. Jongmans MC, et al. Clin Genet. 2009 Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x. Epub 2008 Nov 17. Clin Genet. 2009. PMID: 19021638 Free PMC article.

5

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.

Wulffaert J, Scholte EM, Dijkxhoorn YM, Bergman JE, van Ravenswaaij-Arts CM, van Berckelaer-Onnes IA. Wulffaert J, et al. J Dev Phys Disabil. 2009 Aug;21(4):301-313. doi: 10.1007/s10882-009-9143-y. Epub 2009 Jun 23. J Dev Phys Disabil. 2009. PMID: 19587801 Free PMC article.

6

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP. Bergman JE, et al. Eur J Hum Genet. 2010 Feb;18(2):171-7. doi: 10.1038/ejhg.2009.158. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809474 Free PMC article.

7

Death in CHARGE syndrome after the neonatal period.

Bergman JE, Blake KD, Bakker MK, du Marchie Sarvaas GJ, Free RH, van Ravenswaaij-Arts CM. Bergman JE, et al. Clin Genet. 2010 Mar;77(3):232-40. doi: 10.1111/j.1399-0004.2009.01334.x. Clin Genet. 2010. PMID: 20447140

8

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM. Bergman JE, et al. J Pediatr. 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032. J Pediatr. 2011. PMID: 20884005

9

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. Bergman JE, et al. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378379 Review.

10

Clinical utility gene card for: CHARGE syndrome.

Blake K, van Ravenswaaij-Arts CM, Hoefsloot L, Verloes A. Blake K, et al. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.45. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407266 Free PMC article. No abstract available.

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