CHD7
推薦文献

“Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability”. Clinical Genetics 72 (2):  112–21. (Aug 2007). doi:10.1111/j.1399-0004.2007.00821.x. PMID 17661815.
“Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype”. American Journal of Medical Genetics Part A 143A (22):  2712–5. (Nov 2007). doi:10.1002/ajmg.a.32008. PMID 17937444.
“New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene”. Ophthalmic Genetics 29 (2):  79–84. (Jun 2008). doi:10.1080/13816810801918391. PMID 18484313.
“CHARGE syndrome: an update”. European Journal of Human Genetics 15 (4):  389–99. (Apr 2007). doi:10.1038/sj.ejhg.5201778. PMID 17299439.
“Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome”. American Journal of Human Genetics 83 (4):  511–9. (Oct 2008). doi:10.1016/j.ajhg.2008.09.005. PMC 2561938. PMID 18834967. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561938/.
“Determination of genetic predisposition to patent ductus arteriosus in preterm infants”. Pediatrics 123 (4):  1116–23. (Apr 2009). doi:10.1542/peds.2008-0313. PMC 2734952. PMID 19336370. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734952/.
“Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype”. European Journal of Medical Genetics 52 (4):  271–2. (2009). doi:10.1016/j.ejmg.2009.02.005. PMID 19248844.
“CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome”. Clinical Genetics 74 (1):  31–8. (Jul 2008). doi:10.1111/j.1399-0004.2008.01014.x. PMID 18445044.
“Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome”. Clinical and Experimental Immunology 153 (1):  75–80. (Jul 2008). doi:10.1111/j.1365-2249.2008.03681.x. PMC 2432100. PMID 18505430. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2432100/.
“CHARGE syndrome: report of 47 cases and review”. American Journal of Medical Genetics 76 (5):  402–9. (Apr 1998). doi:10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O. PMID 9556299.
“CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome”. Clinical Genetics 75 (1):  65–71. (Jan 2009). doi:10.1111/j.1399-0004.2008.01107.x. PMC 2854009. PMID 19021638. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854009/.
“Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability”. American Journal of Medical Genetics Part A 146A (1):  43–50. (Jan 2008). doi:10.1002/ajmg.a.31921. PMID 18074359.
“A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features”. Clinical Dysmorphology 17 (4):  249–53. (Oct 2008). doi:10.1097/MCD.0b013e328306a704. PMID 18978652.
“Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome”. European Journal of Medical Genetics 51 (5):  417–25. (2008). doi:10.1016/j.ejmg.2008.03.003. PMID 18472328.
“Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome”. Clinical Genetics 75 (3):  290–3. (Mar 2009). doi:10.1111/j.1399-0004.2008.01127.x. PMID 19159393.
“[Mutation analysis of the CHD7 gene in patients with congenital heart disease]”. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 25 (6):  637–41. (Dec 2008). PMID 19065520.
“Immunological abnormalities in CHARGE syndrome”. European Journal of Medical Genetics 50 (5):  338–45. (2007). doi:10.1016/j.ejmg.2007.05.002. PMID 17684005.
“Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones”. DNA Research 9 (3):  99–106. (Jun 2002). doi:10.1093/dnares/9.3.99. PMID 12168954.
“Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions”. Genetics in Medicine 9 (10):  690–4. (Oct 2007). doi:10.1097/GIM.0b013e318156e68e. PMID 18073582.
“Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome”. Human Molecular Genetics 18 (11):  1909–23. (Jun 2009). doi:10.1093/hmg/ddp112. PMC 2678924. PMID 19279158. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678924/.
Buck, Cassandra; Balasubramanian, Ravikumar; Crowley, Jr, William F (2013-07-18). Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. NBK1334. https://www.ncbi.nlm.nih.gov/books/NBK1334/  In  GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. (1993). https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/
Lalani, Seema R; Hefner, Margaret A; Belmont, John W; Davenport, Sandra LH (2012-02-02). CHARGE Syndrome. NBK1117. https://www.ncbi.nlm.nih.gov/books/NBK1117/  In GeneReviews
Bardakjian, Tanya; Weiss, Avery; Schneider, Adele S (2006-05-26). Anophthalmia/Microphthalmia Overview. NBK1378. https://www.ncbi.nlm.nih.gov/books/NBK1378/  In GeneReviews