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

Year Number of Results
1979 2
1980 1
1981 1
1983 2
1986 2
1990 3
1992 2
1993 1
1994 2
1995 1
1996 1
1997 3
1998 3
1999 1
2000 5
2001 1
2002 2
2003 1
2004 3
2005 2
2006 1
2007 4
2008 4
2009 5
2010 1
2011 7
2012 5
2013 3
2014 2
2015 6
2016 5
2017 1
2018 1
2019 3
2020 2
2021 3
2022 3
2023 1
2024 0

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89 results

Results by year

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Page 1
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H. Deneubourg C, et al. Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19. Autophagy. 2022. PMID: 34130600 Free PMC article.
Structural CNS abnormalities, cerebellar involvement, spasticity and peripheral nerve pathology are prominent neurological features, indicating a specific vulnerability of certain neuronal populations to autophagic disturbance. A typically biphasic disease course of late-o …
Structural CNS abnormalities, cerebellar involvement, spasticity and peripheral nerve pathology are prominent neurological features, indicat …
Chediak-Higashi Syndrome.
Mozafari R, Rajabnia M, Naleini SN. Mozafari R, et al. Arch Iran Med. 2019 Nov 1;22(11):673-674. Arch Iran Med. 2019. PMID: 31823635 No abstract available.
Chediak-Higashi syndrome.
Kaplan J, De Domenico I, Ward DM. Kaplan J, et al. Curr Opin Hematol. 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. Curr Opin Hematol. 2008. PMID: 18043242 Review.
RECENT FINDINGS: Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. Over the past decade the CHS1/LYST family of proteins has been analyzed usin …
RECENT FINDINGS: Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene. The nature of the mut …
Pediatric inflammatory adenopathy.
Penn EB Jr, Goudy SL. Penn EB Jr, et al. Otolaryngol Clin North Am. 2015 Feb;48(1):137-51. doi: 10.1016/j.otc.2014.09.010. Otolaryngol Clin North Am. 2015. PMID: 25439552 Review.
Recurrent childhood PRES.
Donmez FY, Agildere AM. Donmez FY, et al. Neurol Sci. 2015 Sep;36(9):1603-9. doi: 10.1007/s10072-015-2212-3. Epub 2015 Apr 18. Neurol Sci. 2015. PMID: 25894844
The recurrent cases were determined; their radiological features such as involved localizations and clinical information such as presenting symptoms, underlying diseases and clinical prognosis are retrospectively assessed. Of the 32 children (8 months to 18 years old; mean …
The recurrent cases were determined; their radiological features such as involved localizations and clinical information such as presenting …
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG. Emanuel PO, et al. Skinmed. 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. Skinmed. 2007. PMID: 17483661
Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravas …
Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurre …
Phagocyte defects.
White CJ, Gallin JI. White CJ, et al. Clin Immunol Immunopathol. 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. Clin Immunol Immunopathol. 1986. PMID: 2941193 Review.
Although inherited forms of phagocyte defects affect a small proportion of the general population, their clinical course can be altered dramatically by a physician's awareness of these diseases and modifications of the approach to and treatment of affected patients. ...
Although inherited forms of phagocyte defects affect a small proportion of the general population, their clinical course can be alter …
Angeborene hämophagozytische Lymphohistiozytose (HLH).
Pachlopnik Schmid J, de Saint Basile G. Pachlopnik Schmid J, et al. Klin Padiatr. 2010 Nov;222(6):345-50. doi: 10.1055/s-0029-1246165. Epub 2010 May 10. Klin Padiatr. 2010. PMID: 20458667 Review.
Chediak-Higashi syndrome.
Kumar P, Rao KS, Shashikala P, Chandrashekar HR, Banapurmath CR. Kumar P, et al. Indian J Pediatr. 2000 Aug;67(8):595-7. doi: 10.1007/BF02758492. Indian J Pediatr. 2000. PMID: 10985003
Oral manifestations of Chediak-Higashi syndrome: A systematic review.
de Arruda JAA, Sousa-Neto SS, Abreu LG, Schuch LF, Souza VG, Alves TVL, Martins-Andrade B, Shetty SS, Monteiro JLGC, Mendonça EF, Mesquita RA, Callou G. de Arruda JAA, et al. Dis Mon. 2023 Jan;69(1):101356. doi: 10.1016/j.disamonth.2022.101356. Epub 2022 Apr 10. Dis Mon. 2023. PMID: 35414415
Oral rehabilitation including dental implants (9.5%) was performed after tooth losses due to the poor prognosis of periodontal therapy. CHS is usually diagnosed in an early stage due to its systemic manifestations such as classic oculocutaneous albinism, recurrent infectio …
Oral rehabilitation including dental implants (9.5%) was performed after tooth losses due to the poor prognosis of periodontal therap …
89 results