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

Year Number of Results
1894 1
1903 1
1908 1
1909 1
1911 1
1915 4
1921 1
1924 1
1926 1
1930 1
1931 1
1938 1
1944 1
1946 5
1947 6
1948 5
1949 4
1950 9
1951 11
1952 10
1953 6
1954 3
1955 4
1956 15
1957 9
1958 10
1959 14
1960 16
1961 17
1962 20
1963 24
1964 46
1965 34
1966 18
1967 27
1968 39
1969 48
1970 55
1971 77
1972 86
1973 77
1974 70
1975 95
1976 85
1977 71
1978 103
1979 68
1980 83
1981 81
1982 77
1983 81
1984 79
1985 86
1986 78
1987 69
1988 71
1989 80
1990 97
1991 88
1992 119
1993 114
1994 96
1995 93
1996 93
1997 84
1998 81
1999 93
2000 114
2001 108
2002 92
2003 103
2004 110
2005 125
2006 110
2007 125
2008 102
2009 138
2010 112
2011 146
2012 157
2013 185
2014 196
2015 174
2016 172
2017 167
2018 149
2019 191
2020 198
2021 194
2022 179
2023 183
2024 116

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6,174 results

Results by year

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Page 1
Effect of nystagmus on VEP-based objective visual acuity estimates.
Quanz EV, Kuske J, Stolle FH, Bach M, Heinrich SP, Hoffmann MB, Al-Nosairy KO. Quanz EV, et al. Sci Rep. 2024 Jul 22;14(1):16797. doi: 10.1038/s41598-024-66819-y. Sci Rep. 2024. PMID: 39039066 Free PMC article.
For this purpose, 20 participants with nystagmus (NY) caused by idiopathic infantile nystagmus, albinism, achiasma or acquired nystagmus were recruited in this study. ...
For this purpose, 20 participants with nystagmus (NY) caused by idiopathic infantile nystagmus, albinism, achiasma or acquired nystag …
Large lysosomes in Chédiak-Higashi syndrome.
Zhou W, Lane JC, Chang A. Zhou W, et al. Kidney Int. 2024 Aug;106(2):320. doi: 10.1016/j.kint.2024.03.008. Kidney Int. 2024. PMID: 39032971 No abstract available.
Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection.
Guo P, Wu X, Yang M, Xue Y, Zhou J, Huang Z, Wu W, Wang J. Guo P, et al. Blood Cells Mol Dis. 2024 Jul 11;109:102874. doi: 10.1016/j.bcmd.2024.102874. Online ahead of print. Blood Cells Mol Dis. 2024. PMID: 39032214
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and coagulation deficiency. Mostly diagnosed in early childhood, this devastating condition is associated with lysosomal abnormalities attribute …
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and …
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Dutta T, Ganguly K, Saha A, Sil A, Ray K, Sengupta M. Dutta T, et al. Mol Biol Rep. 2024 Jul 16;51(1):818. doi: 10.1007/s11033-024-09777-y. Mol Biol Rep. 2024. PMID: 39014059
BACKGROUND: Oculocutaneous albinism (OCA) is a congenital heterogeneous group of autosomal recessive disorders characterized by the absence or loss of melanin in the skin, eyes and hair of the affected individuals. ...
BACKGROUND: Oculocutaneous albinism (OCA) is a congenital heterogeneous group of autosomal recessive disorders characterized by the a …
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL. Serrano-González J, et al. Mol Genet Genomic Med. 2024 Jul;12(7):e2493. doi: 10.1002/mgg3.2493. Mol Genet Genomic Med. 2024. PMID: 38994739 Free PMC article.
One of the heterogeneous forms of albinism is observed in Hermansky-Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets. METHODS: In this report, we describe a case of a pair of P …
One of the heterogeneous forms of albinism is observed in Hermansky-Pudlak syndrome (HPS) patients. HPS is characterized by albini
Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
Bouhafs N, N'joumi C, Elouali A, Babakhouya A, Rkain M, Benajiba N. Bouhafs N, et al. Cureus. 2024 Jun 11;16(6):e62178. doi: 10.7759/cureus.62178. eCollection 2024 Jun. Cureus. 2024. PMID: 38993473 Free PMC article.
Griscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent development of hemophagocytic syndrome (HPS). ...
Griscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent …
6,174 results