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2025

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Year Number of Results
1982 2
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1988 3
1989 6
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1992 5
1993 8
1994 2
1995 4
1996 7
1997 9
1998 12
1999 9
2000 6
2001 10
2002 4
2003 15
2004 15
2005 17
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2007 24
2008 18
2009 18
2010 23
2011 23
2012 20
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2025 0

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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
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.
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auricu …
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino synd
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
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.
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. Although several studies have revealed signalling pathways and genes potentially involved in the development of …
Associated birth defects or anomalies, such as VACTERL association, trisomy 18 or 21 and CHARGE syndrome, occur in the majorit …
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 …
Coagulation Testing in the Core Laboratory.
Winter WE, Flax SD, Harris NS. Winter WE, et al. Lab Med. 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. Lab Med. 2017. PMID: 29126301 Review.
The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors.In vitro the intrinsic pathway is initiated when fresh whole blood is placed in a glass tube. The negative charge of the glass initiates t …
The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors.In vi …
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.
Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. ...In ad …
Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in w …
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 …
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
Neural Crest.
Thattaliyath BD, Firulli AB. Thattaliyath BD, et al. Adv Exp Med Biol. 2024;1441:125-143. doi: 10.1007/978-3-031-44087-8_6. Adv Exp Med Biol. 2024. PMID: 38884708 Review.
488 results