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Page 1
Congenital T cell deficiency in a patient with CHARGE syndrome.
Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM. Hoover-Fong J, et al. Among authors: hoefsloot lh. J Pediatr. 2009 Jan;154(1):140-2. doi: 10.1016/j.jpeds.2008.07.049. J Pediatr. 2009. PMID: 19187738 Free PMC article.
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D. Gennery AR, et al. Among authors: hoefsloot lh. Clin Exp Immunol. 2008 Jul;153(1):75-80. doi: 10.1111/j.1365-2249.2008.03681.x. Epub 2008 May 26. Clin Exp Immunol. 2008. PMID: 18505430 Free PMC article.
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. Among authors: hoefsloot lh. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S. Batsukh T, et al. Among authors: hoefsloot lh. Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7. Hum Mol Genet. 2010. PMID: 20453063
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.
The Immune Phenotype of Patients with CHARGE Syndrome.
Hsu P, Ma A, Barnes EH, Wilson M, Hoefsloot LH, Rinne T, Munns C, Williams G, Wong M, Mehr S. Hsu P, et al. Among authors: hoefsloot lh. J Allergy Clin Immunol Pract. 2016 Jan-Feb;4(1):96-103.e2. doi: 10.1016/j.jaip.2015.09.004. Epub 2015 Nov 7. J Allergy Clin Immunol Pract. 2016. PMID: 26563674
169 results