TY - JOUR AU - Sanlaville, D. AU - Verloes, A. PY - 2007 DA - 2007// TI - CHARGE syndrome: An update JO - Eur J Hum Genet VL - 15 UR - https://doi.org/10.1038/sj.ejhg.5201778 DO - 10.1038/sj.ejhg.5201778 ID - Sanlaville2007 ER - TY - JOUR AU - Ravenswaaij-Arts, C. M. A. AU - Blake, K. AU - Hoefsloot, L. AU - Verloes, A. PY - 2015 DA - 2015// TI - Clinical utility gene card for: CHARGE syndrome - update 2015 JO - Eur J Hum Genet VL - 23 UR - https://doi.org/10.1038/ejhg.2015.15 DO - 10.1038/ejhg.2015.15 ID - Ravenswaaij-Arts2015 ER - TY - JOUR AU - Hall, B. D. PY - 1979 DA - 1979// TI - Choanal atresia and associated multiple anomalies JO - J Pediatr VL - 95 UR - https://doi.org/10.1016/S0022-3476(79)80513-2 DO - 10.1016/S0022-3476(79)80513-2 ID - Hall1979 ER - TY - JOUR AU - Hittner, H. M. AU - Hirsch, N. J. AU - Kreh, G. M. AU - Rudolph, A. J. PY - 1979 DA - 1979// TI - Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation. A syndrome JO - J Pediatr Ophthalmol Strabismus VL - 16 ID - Hittner1979 ER - TY - JOUR AU - Blake, K. D. AU - Prasad, C. PY - 2006 DA - 2006// TI - CHARGE syndrome JO - Orphanet J Rare Dis VL - 1 UR - https://doi.org/10.1186/1750-1172-1-34 DO - 10.1186/1750-1172-1-34 ID - Blake2006 ER - TY - JOUR AU - Bergman, J. E. H. AU - Blake, K. D. AU - Bakker, M. K. AU - Marchie Sarvaas, G. J. AU - Free, R. H. AU - Ravenswaaij-Arts, C. M. A. PY - 2010 DA - 2010// TI - Death in CHARGE syndrome after the neonatal period JO - Clin Genet VL - 77 UR - https://doi.org/10.1111/j.1399-0004.2009.01334.x DO - 10.1111/j.1399-0004.2009.01334.x ID - Bergman2010 ER - TY - JOUR AU - Bergman, J. E. H. AU - Janssen, N. AU - Hoefsloot, L. H. AU - Jongmans, M. C. J. AU - Hofstra, R. M. W. AU - Ravenswaaij-Arts, C. M. A. PY - 2011 DA - 2011// TI - CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype JO - J Med Genet VL - 48 UR - https://doi.org/10.1136/jmg.2010.087106 DO - 10.1136/jmg.2010.087106 ID - Bergman2011 ER - TY - STD TI - Lalani SR, Hefner MA, Belmont JW, Davenport SL. CHARGE syndrome summary clinical characteristics diagnosis clinical diagnosis. Gene Rev. 2006; Available from: https://www.ncbi.nlm.nih.gov/books/NBK1117/pdf/Bookshelf_NBK1117.pdf. UR - https://www.ncbi.nlm.nih.gov/books/NBK1117/pdf/Bookshelf_NBK1117.pdf ID - ref8 ER - TY - JOUR AU - Verloes, A. PY - 2005 DA - 2005// TI - Updated diagnostic criteria for CHARGE syndrome: a proposal JO - Am J Med Genet VL - 133 UR - https://doi.org/10.1002/ajmg.a.30559 DO - 10.1002/ajmg.a.30559 ID - Verloes2005 ER - TY - JOUR AU - Janssen, N. AU - Bergman, J. E. H. AU - Swertz, M. A. AU - Tranebjaerg, L. AU - Lodahl, M. AU - Schoots, J. PY - 2012 DA - 2012// TI - Mutation update on the CHD7 gene involved in CHARGE syndrome JO - Hum Mutat VL - 33 UR - https://doi.org/10.1002/humu.22086 DO - 10.1002/humu.22086 ID - Janssen2012 ER - TY - JOUR AU - Zentner, G. E. AU - Layman, W. S. AU - Martin, D. M. AU - Scacheri, P. C. PY - 2010 DA - 2010// TI - Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome JO - Am J Med Genet A VL - 152 UR - https://doi.org/10.1002/ajmg.a.33323 DO - 10.1002/ajmg.a.33323 ID - Zentner2010 ER - TY - JOUR AU - Hughes, S. S. AU - Welsh, H. I. AU - Safina, N. P. AU - Bejaoui, K. AU - Ardinger, H. H. PY - 2014 DA - 2014// TI - Family history and clefting as major criteria for CHARGE syndrome JO - Am J Med Genet A VL - 164 UR - https://doi.org/10.1002/ajmg.a.36192 DO - 10.1002/ajmg.a.36192 ID - Hughes2014 ER - TY - JOUR AU - Jyonouchi, S. AU - McDonald-McGinn, D. M. AU - Bale, S. AU - Zackai, E. H. AU - Sullivan, K. E. PY - 2009 DA - 2009// TI - 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 JO - Pediatrics VL - 123 UR - https://doi.org/10.1542/peds.2008-3400 DO - 10.1542/peds.2008-3400 ID - Jyonouchi2009 ER - TY - JOUR AU - Lemmerling, M. AU - Dhooge, I. AU - Mollet, P. AU - Mortier, G. AU - Cauwenberge, P. K. M. PY - 1998 DA - 1998// TI - CT of the temporal bone in the CHARGE association JO - Neuroradiology VL - 40 UR - https://doi.org/10.1007/s002340050625 DO - 10.1007/s002340050625 ID - Lemmerling1998 ER - TY - JOUR AU - Amiel, J. AU - Attieé-Bitach, T. AU - Marianowski, R. AU - Cormier-Daire, V. AU - Abadie, V. AU - Bonnet, D. PY - 2001 DA - 2001// TI - Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome JO - Am J Med Genet VL - 99 UR - https://doi.org/3.0.CO;2-9 DO - 3.0.CO;2-9 ID - Amiel2001 ER - TY - JOUR AU - Kaplan, J. AU - Hudgins, L. PY - 2008 DA - 2008// TI - Neonatal presentations of charge syndrome and VATER/VACTERL association JO - Neoreviews VL - 9 UR - https://doi.org/10.1542/neo.9-7-e299 DO - 10.1542/neo.9-7-e299 ID - Kaplan2008 ER - TY - JOUR AU - Bilan, F. AU - Legendre, M. AU - Charraud, V. AU - Manière, B. AU - Couet, D. AU - Gilbert-Dussardier, B. PY - 2012 DA - 2012// TI - Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: New guidelines and a proposal for routine diagnosis JO - J Mol Diagnostics VL - 14 UR - https://doi.org/10.1016/j.jmoldx.2011.08.003 DO - 10.1016/j.jmoldx.2011.08.003 ID - Bilan2012 ER - TY - JOUR AU - Allen, T. PY - 2012 DA - 2012// TI - CHARGE syndrome: diagnosis and clinical management in the NICU JO - Adv Neonatal Care VL - 12 UR - https://doi.org/10.1097/ANC.0b013e318276c320 DO - 10.1097/ANC.0b013e318276c320 ID - Allen2012 ER - TY - JOUR AU - Tellier, A. L. AU - Cormier-Daire, V. AU - Abadie, V. AU - Amiel, J. AU - Sigaudy, S. AU - Bonnet, D. PY - 1998 DA - 1998// TI - CHARGE syndrome: report of 47 cases and review JO - Am J Med Genet VL - 76 UR - https://doi.org/3.0.CO;2-O DO - 3.0.CO;2-O ID - Tellier1998 ER - TY - JOUR AU - Wiener-Vacher, S. R. AU - Amanou, L. AU - Denise, P. AU - Narcy, P. AU - Manach, Y. PY - 1999 DA - 1999// TI - Vestibular function in children with the CHARGE association JO - Arch Otolaryngol Head Neck Surg VL - 125 UR - https://doi.org/10.1001/archotol.125.3.342 DO - 10.1001/archotol.125.3.342 ID - Wiener-Vacher1999 ER - TY - JOUR AU - Abadie, V. AU - Wiener-Vacher, S. AU - Morisseau-Durand, M. P. AU - Porée, C. AU - Amiel, J. AU - Amanou, L. PY - 2000 DA - 2000// TI - Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development JO - Eur J Pediatr VL - 159 UR - https://doi.org/10.1007/s004319900409 DO - 10.1007/s004319900409 ID - Abadie2000 ER - TY - JOUR AU - Morimoto, A. K. AU - Wiggins, R. H. AU - Hudgins, P. A. AU - Hedlund, G. L. AU - Hamilton, B. AU - Mukherji, S. K. PY - 2006 DA - 2006// TI - Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings JO - Am J Neuroradiol VL - 27 ID - Morimoto2006 ER - TY - JOUR AU - Bauer, P. W. AU - Wippold, F. J. AU - Goldin, J. R. P. L. PY - 2002 DA - 2002// TI - Cochlear implantation in children with CHARGE syndrome JO - Arch Otolaryngol Head Neck Surg VL - 128 UR - https://doi.org/10.1001/archotol.128.9.1013 DO - 10.1001/archotol.128.9.1013 ID - Bauer2002 ER -