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Year Number of Results
1978 1
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1988 4
1989 6
1990 6
1991 1
1992 7
1993 10
1994 2
1995 5
1996 11
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1998 14
1999 12
2000 9
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2002 7
2003 20
2004 21
2005 27
2006 33
2007 35
2008 27
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2024 10

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741 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
Oesophageal atresia.
van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP. van Lennep M, et al. Nat Rev Dis Primers. 2019 Apr 18;5(1):26. doi: 10.1038/s41572-019-0077-0. Nat Rev Dis Primers. 2019. PMID: 31000707 Review.
EA commonly occurs with a tracheo-oesophageal fistula (TEF). Associated birth defects or anomalies, such as VACTERL association, trisomy 18 or 21 and CHARGE syndrome, occur in the majority of patients born with EA. ...
EA commonly occurs with a tracheo-oesophageal fistula (TEF). Associated birth defects or anomalies, such as VACTERL association, tris …
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. ...This differential diagnosis …
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral …
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
The enteric nervous system in gastrointestinal disease etiology.
Holland AM, Bon-Frauches AC, Keszthelyi D, Melotte V, Boesmans W. Holland AM, et al. Cell Mol Life Sci. 2021 May;78(10):4713-4733. doi: 10.1007/s00018-021-03812-y. Epub 2021 Mar 26. Cell Mol Life Sci. 2021. PMID: 33770200 Free PMC article. Review.
A highly conserved but convoluted network of neurons and glial cells, the enteric nervous system (ENS), is positioned along the wall of the gut to coordinate digestive processes and gastrointestinal homeostasis. Because ENS components are in charge of the autonomous regula …
A highly conserved but convoluted network of neurons and glial cells, the enteric nervous system (ENS), is positioned along the wall of the …
[SMA: from gene discovery to gene therapy].
Barkats M. Barkats M. Med Sci (Paris). 2020 Feb;36(2):137-140. doi: 10.1051/medsci/2020010. Epub 2020 Mar 4. Med Sci (Paris). 2020. PMID: 32129749 Free article. Review. French.
Recently, a startup led by the Dr Kaspar decided to test this experimental approach in children with SMA type 1. Dr Mendell, in charge of this clinical project, showed a very significant increase of the lifespan and motor function of the patients (until 4 years) after a si …
Recently, a startup led by the Dr Kaspar decided to test this experimental approach in children with SMA type 1. Dr Mendell, in charge
New developments in the molecular treatment of ichthyosis: review of the literature.
Joosten MDW, Clabbers JMK, Jonca N, Mazereeuw-Hautier J, Gostyński AH. Joosten MDW, et al. Orphanet J Rare Dis. 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6. Orphanet J Rare Dis. 2022. PMID: 35840979 Free PMC article. Review.
Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove their efficacy and will be incorpo …
Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome
[Role of enamel microabrasion associated with external bleaching in the management of patients with dental fluorosis].
Azzahim L, Chala S, Abdallaoui F. Azzahim L, et al. Pan Afr Med J. 2019 Oct 4;34:72. doi: 10.11604/pamj.2019.34.72.20401. eCollection 2019. Pan Afr Med J. 2019. PMID: 31819788 Free PMC article. Review. French.
Dental fluorosis is a developmental anomaly affecting aesthetic appearance. The association between microabrasion and external bleaching has shown satisfactory outcomes because it improves aesthetic outcome in patients with light dental fluorosis. The purpose of this study …
Dental fluorosis is a developmental anomaly affecting aesthetic appearance. The association between microabrasion and external bleach …
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Mustillo PJ, et al. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648576 Free PMC article. Review.
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and colob …
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DT …
Behavior in CHARGE syndrome.
Hartshorne TS, Stratton KK, Brown D, Madhavan-Brown S, Schmittel MC. Hartshorne TS, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):431-438. doi: 10.1002/ajmg.c.31588. Epub 2017 Oct 30. Am J Med Genet C Semin Med Genet. 2017. PMID: 29082623 Review.
In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalitie …
In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different …
741 results