Video Upload Options

References

1. Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, AsimacopoulosEP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM,Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr.Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi:10.1073/pnas.1417438111.
2. Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone(GnRH) Deficiency. 2007 May 23 [updated 2017 Mar 2]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1334/
3. Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A,Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM. The results of CHD7 analysis inclinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012 May;97(5):E858-62. doi: 10.1210/jc.2011-2652.
4. Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, vanRavenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinicalimplications of an expanding phenotype. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106.
5. Bouazoune K, Kingston RE. Chromatin remodeling by the CHD7 protein is impairedby mutations that cause human developmental disorders. Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19238-43. doi: 10.1073/pnas.1213825109.
6. 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. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x.
7. Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G,Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathichypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005.
8. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA,Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7mutations in 110 individuals with CHARGE syndrome and genotype-phenotypecorrelation. Am J Hum Genet. 2006 Feb;78(2):303-14.
9. Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S,Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S,Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P,Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. J Clin Endocrinol Metab. 2014Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110.Clin Endocrinol Metab. 2015 Jan;100(1):317.
10. Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, vanRavenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neuralcrest cell guidance. Hum Genet. 2014 Aug;133(8):997-1009. doi:10.1007/s00439-014-1444-2.
11. van Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. CHD7 Disorder. 2006 Oct2 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1117/
12. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM,van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG,Veltman JA, van Kessel AG. Mutations in a new member of the chromodomain genefamily cause CHARGE syndrome. Nat Genet. 2004 Sep;36(9):955-7.