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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1926 1
1941 1
1957 1
1964 1
1969 1
1970 1
1971 1
1974 1
1976 3
1977 2
1978 4
1979 2
1980 4
1981 4
1982 5
1983 12
1984 4
1985 10
1986 20
1987 19
1988 30
1989 37
1990 33
1991 31
1992 42
1993 42
1994 47
1995 38
1996 44
1997 48
1998 49
1999 45
2000 34
2001 53
2002 53
2003 58
2004 55
2005 102
2006 83
2007 98
2008 82
2009 92
2010 121
2011 108
2012 142
2013 147
2014 143
2015 136
2016 154
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2,998 results
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Page 1
CHARGE syndrome: a review.
Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. Hsu P, et al. J Paediatr Child Health. 2014 Jul;50(7):504-11. doi: 10.1111/jpc.12497. Epub 2014 Feb 19. J Paediatr Child Health. 2014. PMID: 24548020 Review.
CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome....
CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the
CHARGE Syndrome.
Usman N, Sur M. Usman N, et al. 2022 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. PMID: 32644625 Free Books & Documents.
CHARGE syndrome is a rare, autosomal dominant genetic disorder commonly diagnosed during the prenatal or neonatal period due to the identification of numerous dysmorphic and congenital anomalies. The features of CHARGE syndrome were first described ind
CHARGE syndrome is a rare, autosomal dominant genetic disorder commonly diagnosed during the prenatal or neonatal period due t
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
van Ravenswaaij-Arts C, Martin DM. van Ravenswaaij-Arts C, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):397-406. doi: 10.1002/ajmg.c.31592. Epub 2017 Nov 24. Am J Med Genet C Semin Med Genet. 2017. PMID: 29171162 Free PMC article. Review.
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. ...We hope the excitement around innovative research and development in CHARGE syndrome will enco
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogeni
CHARGE Syndrome.
Hudson A, Trider CL, Blake K. Hudson A, et al. Pediatr Rev. 2017 Jan;38(1):56-59. doi: 10.1542/pir.2016-0050. Pediatr Rev. 2017. PMID: 28044040 No abstract available.
CHARGE syndrome.
Blake KD, Prasad C. Blake KD, et al. Orphanet J Rare Dis. 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. Orphanet J Rare Dis. 2006. PMID: 16959034 Free PMC article. Review.
The reported incidence of CHARGE syndrome ranges from 0.1-1.2/10,000 and depends on professional recognition. ...Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member …
The reported incidence of CHARGE syndrome ranges from 0.1-1.2/10,000 and depends on professional recognition. ...Multiple cran …
Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.
Krueger LA, Morris AC. Krueger LA, et al. Front Cell Dev Biol. 2022 Sep 8;10:994412. doi: 10.3389/fcell.2022.994412. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36172288 Free PMC article. Review.
MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. One important example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear a …
MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. One important example is CHARGE synd
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. Bergman JE, et al. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378379 Review.
BACKGROUND: CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome, of which the complete phenotypic spectrum was only revealed after identification of the causative gene in 2004. ...Finally, we give updated recommendations for clinical su …
BACKGROUND: CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome, of which the complete phenotypi …
CHARGE syndrome: a review of the immunological aspects.
Wong MT, Schölvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM. Wong MT, et al. Eur J Hum Genet. 2015 Nov;23(11):1451-9. doi: 10.1038/ejhg.2015.7. Epub 2015 Feb 18. Eur J Hum Genet. 2015. PMID: 25689927 Free PMC article. Review.
CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion synd
CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsuf
CHARGE syndrome protein CHD7 regulates epigenomic activation of enhancers in granule cell precursors and gyrification of the cerebellum.
Reddy NC, Majidi SP, Kong L, Nemera M, Ferguson CJ, Moore M, Goncalves TM, Liu HK, Fitzpatrick JAJ, Zhao G, Yamada T, Bonni A, Gabel HW. Reddy NC, et al. Nat Commun. 2021 Sep 29;12(1):5702. doi: 10.1038/s41467-021-25846-3. Nat Commun. 2021. PMID: 34588434 Free PMC article.
Haploinsufficiency of the chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a genetic disorder that affects the development of the cerebellum. ...Collectively, our findings define epigenomic regulation by CHD7 in granule cell precursors and identify abnormal …
Haploinsufficiency of the chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a genetic disorder that affects the develop …
Immunodeficiency in CHARGE syndrome.
Mehr S, Hsu P, Campbell D. Mehr S, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):516-523. doi: 10.1002/ajmg.c.31594. Epub 2017 Nov 21. Am J Med Genet C Semin Med Genet. 2017. PMID: 29159871 Review.
Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without i …
Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell d …
2,998 results