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

Year Number of Results
1967 1
1968 1
1970 1
1971 5
1972 12
1973 10
1974 8
1975 4
1976 2
1977 10
1978 6
1979 5
1980 7
1981 5
1982 7
1983 7
1984 3
1985 2
1986 5
1987 6
1988 2
1989 6
1990 5
1991 2
1992 7
1993 5
1994 3
1995 4
1996 1
1997 4
1998 6
1999 8
2000 10
2001 6
2002 3
2003 5
2004 5
2005 3
2006 6
2007 7
2008 4
2009 2
2010 1
2011 3
2012 4
2013 8
2014 5
2015 2
2016 1
2017 1
2018 2
2019 2
2020 1
2021 4
2022 3
2023 1
2024 1

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243 results

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Page 1
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Review.
PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. ...This review serves …
PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunode …
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. ...
Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli …
The retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic forms of albinism (Hermansky-Pudlak (HPS) and Chediak-Higashi syndrome (CHS)). We put forward that specific melanosome …
We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic …
Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
Spodzieja K, Olczak-Kowalczyk D. Spodzieja K, et al. Int J Environ Res Public Health. 2022 Mar 13;19(6):3386. doi: 10.3390/ijerph19063386. Int J Environ Res Public Health. 2022. PMID: 35329073 Free PMC article. Review.
RESULTS: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefevre syndrome, mucocutaneous dyskeratosis, Coffin-Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypophosphat …
RESULTS: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefevre syndrome, muco …
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.
PURPOSE OF REVIEW: Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. ...This review will discuss the advances made in understanding the clinical aspects of the syndrome and the function of CHS1/LYST/Beige. …
PURPOSE OF REVIEW: Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. ...T …
Chemotaxis.
Kretschmer RR, Collado ML. Kretschmer RR, et al. Infection. 1980;8 Suppl 3:S 299-302. doi: 10.1007/BF01639599. Infection. 1980. PMID: 6997207 Review.
Finally, reference is made to the relationship between chemotaxis and manifestations of disease (e.g. inflammatory response) and defects in the chemotaxis-inducting systems in man in certain diseases (Chediak-Higashi syndrome, lazy leukocyte syndrome, …
Finally, reference is made to the relationship between chemotaxis and manifestations of disease (e.g. inflammatory response) and defects in …
Albinism.
François J. François J. Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802. Ophthalmologica. 1979. PMID: 108645 Review.
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Ched …
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneou …
Melanosome transport and regulation in development and disease.
Tian X, Cui Z, Liu S, Zhou J, Cui R. Tian X, et al. Pharmacol Ther. 2021 Mar;219:107707. doi: 10.1016/j.pharmthera.2020.107707. Epub 2020 Oct 17. Pharmacol Ther. 2021. PMID: 33075361 Review.
Disorders in melanogenesis and melanosome transport are linked to pigmentary diseases, such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome. Clinical cases of these pigmentary diseases shed light on the molecular m …
Disorders in melanogenesis and melanosome transport are linked to pigmentary diseases, such as Hermansky-Pudlak syndrome, Chediak …
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.
Lysosome-related organelles.
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS. Dell'Angelica EC, et al. FASEB J. 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. FASEB J. 2000. PMID: 10877819 Review.
Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higashi and Hermansky-Pudlak syndromes, further demonstrating the close relationship between these organelles. ...
Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-H …
243 results