| 1 | ASH2L, CHARGE, CHD7, KABUK1, KMT2D, RBBP5, WDR5
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| CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
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| Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.
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| Am J Hum Genet 100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.
2017
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| 2 | CHARGE, CHD7
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| CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
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| Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B.
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| BMC Med Genet 16(1):78. doi: 10.1186/s12881-015-0225-7.
2015
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| 3 | CHARGE, CHD7
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| CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
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| Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.
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| Hum Genet 133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13.
2014
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| 4 | CHARGE, CHD7, DEL8Q12
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| 8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature.
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| Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.
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| Gene ene. 2012 Nov 7. doi:pii: S0378-1119(12)01339-X. 10.1016/j.gene.2012.09.132. [Epub ahead of print]
2012
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| 5 | CHARGE, CHD7
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| CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
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| Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J.
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| Clin Genet 81(3):234-9. doi: 10.1111/j.1399-0004.2011.01701.x. Epub 2011 May 27.
2012
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| 6 | CHARGE, CHD7
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| Mutation update on the CHD7 gene involved in CHARGE syndrome.
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| Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
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| Hum Mutat 33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.
2012
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| 7 | CHARGE, CHD7
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| Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
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| Zentner GE, Layman WS, Martin DM, Scacheri PC.
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| Am J Med Genet A 152A(3):674-86. Review.PMID: 20186815 2010
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| 8 | CHARGE, CHD7
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| CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
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| Zentner GE, Hurd EA, Schnetz MP, Handoko L, Wang C, Wang Z, Wei C, Tesar PJ, Hatzoglou M, Martin DM, Scacheri PC.
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| Hum Mol Genet 19(18):3491-501. Epub 2010 Jun 29.PMID: 20591827 2010
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| 9 | CHARGE, CHD7
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| Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
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| Kaliakatsos M, Giannakopoulos A, Fryssira H, Kanariou M, Skiathitou AV, Siahanidou T, Giannikou K, Makrythanasis P, Kanavakis E, Tzetis M.
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| J Hum Genet 55(11):761-3. Epub 2010 Aug 5.
2010
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| 10 | CHARGE, CHD7
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| CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
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| 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.
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| Clin Genet 75(1):65-71. Epub 2008 Nov 17.
2009
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| 11 | CHARGE, CHD7
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| CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
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| Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE.
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| Pediatrics 123(5):e871-7.
2009
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| 12 | CHARGE, CHD7
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| Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.
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| Lee YW, Kim SC, Shin YL, Kim JW, Hong HS, Lee YK, Ki CS.
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| Clin Genet. 75(3):290-3. 2009
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| 13 | CHARGE, CHD7
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| Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
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| Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM.
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| Hum Mol Genet 18(11):1909-23. Epub 2009 Mar 11.PMID: 19279158 2009
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| 14 | CHARGE, CHD7
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| Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
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| Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM.
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| Am J Med Genet A 146(1):43-50. 2008
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| 15 | CHARGE, CHD7
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| CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
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| Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.
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| Clin Genet 74(1):31-8. Epub 2008 Apr 28.
2008
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| 16 | CHARGE, CHD7
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| Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
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| 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.
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| Am J Hum Genet 83(4):511-9. Epub 2008 Oct 2.
2008
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| 17 | CHARGE, CHD7
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| Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
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| Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
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| J Clin Endocrinol Metab 93(3):920-4. Epub 2007 Dec 18.
2008
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| 18 | CHARGE, CHD7
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| Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
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| Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM.
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| Eur J Med Genet 51(5):417-25. Epub 2008 Apr 4.
2008
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| 19 | CHARGE, CHD7
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| Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
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| 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.
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| Clin Exp Immunol 153(1):75-80. Epub 2008 May 26.PMID: 18505430 2008
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| 20 | CHARGE, CHD7, CHARGE2, SEMA3E
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| CHARGE syndrome: an update.
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| Sanlaville D, Verloes A.
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| Eur J Hum Genet 15(4):389-99. Epub 2007 Feb 14. 2007
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| 21 | CHARGE, CHD7
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| Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
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| Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Berges M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attie-Bitach T, Verloes A, Sanlaville D.
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| Clin Genet 72(2):112-21. 2007
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| 22 | CHARGE, CHD7
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| Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
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| Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pšyhšnen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, KŠŠriŠinen H, Kohlhase J.
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| Genet Med 9(10):690-4. 2007
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| 23 | CHARGE, CHD7
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| Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation.
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| 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.
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| Am J Hum Genet 78(2):303-14. Epub 2005 Dec 29. 2006
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| 24 | CHD7, CHARGE
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| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
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| Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T.
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| J Med Genet 43(3):211-317. Epub 2005 Sep 16. 2006
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| 25 | CHD7, CHARGE
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| Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.
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| Johnson D, Morrison N, Grant L, Turner T, Fantes J, Connor JM, Murday V.
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| J Med Genet 43(3):280-4. Epub 2005 Aug 23. 2006
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| 26 | CHD7, CHARGE
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| CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
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| Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
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| J Med Genet 43(4):306-14. Epub 2005 Sep 9. 2006
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| 27 | CHARGE
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| CHARGE syndrome: relations between behavioral characteristics and medical conditions.
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| Vervloed MP, Hoevenaars-van den Boom MA, Knoors H, van Ravenswaaij CM, Admiraal RJ.
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| Am J Med Genet A 140(8):851-62. 2006
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| 28 | CHARGE, CHD7, DEL22Q11, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCJ, MYCN, ODED1, SALL1, TBS, TBX1, VACTERLH
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| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
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| Shaw-Smith C.
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| J Med Genet 43(7):545-54. Epub 2005 Nov 18. Review. 2006
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| 29 | CHARGE
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| Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.
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| Arrington CB, Cowley BC, Nightingale DR, Zhou H, Brothman AR, Viskochil DH.
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| Am J Med Genet A 133(3):326-30. 2005
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| 30 | CHARGE
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| Updated diagnostic criteria for CHARGE syndrome: a proposal.
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| Verloes A.
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| Am J Med Genet A 133(3):306-8. No abstract available. 2005
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| 31 | CHARGE
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| An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.
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| Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD.
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| Am J Med Genet A 133(3):309-17. 2005
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| 32 | CHD7, CHARGE
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| Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
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| Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.
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| Hum Mol Genet 14(22):3463-76. Epub 2005 Oct 5. 2005
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| 33 | CHD7, CHARGE
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| Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
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| 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.
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| Nat Genet 36(9):955-7. Epub 2004 Aug 08. 2004
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| 34 | CHARGE
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| Congenital aplasia of the semicircular canals.
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| Satar B, Mukherji SK, Telian SA.
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| Otol Neurotol 24(3):437-46. 2003
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| 35 | CHARGE
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| A CGH study of 27 patients with CHARGE association.
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| Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M.
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| Clin Genet 61(2):135-8. 2002
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| 36 | CHARGE
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| A recognizable syndrome within CHARGE association: Hall-Hittner syndrome.
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| Graham JM Jr.
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| Am J Med Genet 99(2):120-3. No abstract available. 2001
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| 37 | CHARGE
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| Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.
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| Amiel J, Attiee-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, Bonnet D, Gonzales M, Chemouny S, Brunelle F, Munnich A, Manach Y, Lyonnet S.
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| Am J Med Genet 99(2):124-7. 2001
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| 38 | CHARGE
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| CHARGE syndrome: report of 47 cases and review.
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| Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S.
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| Am J Med Genet 76(5):402-9. Review. 1998
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| 39 | CHARGE
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| CHARGE association: an update and review for the primary pediatrician.
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| Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr.
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| Clin Pediatr (Phila) 37(3):159-73. Review. 1998
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| 40 | GLDN, CHARGE
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| A patient with interstitial deletion of the short arm of chromosome 3 (pter-p21.2::p12-qter) and a CHARGE-like phenotype.
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| Wieczorek D, et al.
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| Am J Med Genet 69 : 413-417. 1997
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| 41 | CHARGE, DEL22Q11
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| Features of DiGeorge syndrome and CHARGE association in five patients.
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| de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S.
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| J Med Genet 34(12):986-9. 1997
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| 42 | CHARGE
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| Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
|
| Hurst JA, et al.
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| J Med Genet 28 : 54-55. 1991
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| 43 | CHARGE
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| Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
|
| Pagon RA, Graham JM Jr, Zonana J, Yong SL.
|
| J Pediatr 99(2):223-7. 1981
|
| 44 | CHARGE
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| Choanal atresia and associated multiple anomalies.
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| Hall BD.
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| J Pediatr 95(3):395-8. 1979
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| 45 | CHARGE
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| Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.
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| Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ.
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| J Pediatr Ophthalmol Strabismus 16(2):122-8. 1979
|