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1865 1
1874 1
1875 1
1877 1
1882 2
1883 3
1884 1
1885 1
1886 3
1887 1
1888 2
1892 1
1893 1
1895 1
1897 2
1898 3
1900 5
1901 1
1902 2
1903 1
1911 2
1912 2
1913 1
1918 1
1922 1
1923 1
1925 2
1926 1
1928 2
1929 3
1931 1
1932 2
1933 6
1934 2
1936 4
1937 1
1938 1
1939 3
1941 2
1942 3
1943 1
1944 9
1945 6
1946 14
1947 15
1948 15
1949 10
1950 24
1951 24
1952 19
1953 29
1954 20
1955 32
1956 21
1957 23
1958 21
1959 25
1960 27
1961 31
1962 36
1963 26
1964 47
1965 48
1966 53
1967 64
1968 75
1969 81
1970 87
1971 97
1972 74
1973 85
1974 85
1975 73
1976 85
1977 100
1978 114
1979 81
1980 115
1981 113
1982 134
1983 138
1984 129
1985 144
1986 182
1987 182
1988 155
1989 201
1990 187
1991 200
1992 220
1993 221
1994 222
1995 251
1996 265
1997 278
1998 281
1999 276
2000 321
2001 315
2002 336
2003 342
2004 400
2005 405
2006 470
2007 471
2008 502
2009 541
2010 576
2011 637
2012 696
2013 745
2014 740
2015 798
2016 742
2017 738
2018 788
2019 776
2020 923
2021 1079
2022 1044
2023 872
2024 425

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19,482 results

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Page 1
Lowe Syndrome.
Lewis RA, Nussbaum RL, Brewer ED. Lewis RA, et al. 2001 Jul 24 [updated 2019 Apr 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Jul 24 [updated 2019 Apr 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301653 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. ...Circumstances to avoid: Corneal contact lenses because of associated risk of corneal keloid formation and complexities …
CLINICAL CHARACTERISTICS: Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous sys …
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). ...In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome …
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified …
Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.
Tatsi P, Papanikolaou GE, Chartomatsidou T, Papoulidis I, Athanasiadis A, Najdecki R, Timotheou E. Tatsi P, et al. J Med Case Rep. 2019 Nov 2;13(1):325. doi: 10.1186/s13256-019-2263-9. J Med Case Rep. 2019. PMID: 31676009 Free PMC article. Review.
BACKGROUND: Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. ...The symptoms of Lowe syndrome are expressed primarily as dysfunction of the eyes, kidneys, and the central nervous system. ...
BACKGROUND: Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. ...The sym …
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects.
Recker F, Reutter H, Ludwig M. Recker F, et al. J Pediatr Genet. 2013 Jun;2(2):53-68. doi: 10.3233/PGE-13049. J Pediatr Genet. 2013. PMID: 27625841 Free PMC article. Review.
There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of enzyme function. ...In this review, we have included well-established findings and the most rece …
There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differenc …
The role of the Lowe syndrome protein OCRL in the endocytic pathway.
Sharma S, Skowronek A, Erdmann KS. Sharma S, et al. Biol Chem. 2015 Dec;396(12):1293-300. doi: 10.1515/hsz-2015-0180. Biol Chem. 2015. PMID: 26351914 Review.
Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects. Lowe syndrome is furthermore characterized by defects of the eye (congenital cataracts) and nervous system (mental d …
Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized b …
Management of cataract surgery in Lowe syndrome.
Eibenberger K, Rezar-Dreindl S, Pusch F, Schmidt-Erfurth U, Stifter E. Eibenberger K, et al. Int J Ophthalmol. 2022 Jul 18;15(7):1198-1202. doi: 10.18240/ijo.2022.07.22. eCollection 2022. Int J Ophthalmol. 2022. PMID: 35919319 Free PMC article.
AIM: To evaluate the ophthalmic and anesthesiologic management of cataract surgery in children with Lowe syndrome receiving lens removal, the development and management of secondary glaucoma. ...CONCLUSION: Bilateral simultaneous cataract surgery under general anesthesia i …
AIM: To evaluate the ophthalmic and anesthesiologic management of cataract surgery in children with Lowe syndrome receiving lens remo …
The cellular and physiological functions of the Lowe syndrome protein OCRL1.
Mehta ZB, Pietka G, Lowe M. Mehta ZB, et al. Traffic. 2014 May;15(5):471-87. doi: 10.1111/tra.12160. Epub 2014 Mar 7. Traffic. 2014. PMID: 24499450 Free PMC article. Review.
Consequently, mutation of phosphoinositide-metabolizing enzymes is responsible for a growing number of diseases in humans. Two related disorders, oculocerebrorenal syndrome of Lowe (OCRL) and Dent-2 disease, are caused by mutation of the inositol 5-phosphatase OCRL1. ...Re …
Consequently, mutation of phosphoinositide-metabolizing enzymes is responsible for a growing number of diseases in humans. Two related disor …
Oculocerebral syndrome of Lowe.
Lowe C. Lowe C. J Glaucoma. 2005 Jun;14(3):179-80. doi: 10.1097/01.ijg.0000158852.92484.88. J Glaucoma. 2005. PMID: 15870596 No abstract available.
Structure and function of the Lowe syndrome protein OCRL1.
Lowe M. Lowe M. Traffic. 2005 Sep;6(9):711-9. doi: 10.1111/j.1600-0854.2005.00311.x. Traffic. 2005. PMID: 16101675 Free article. Review.
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder with the hallmark features of congenital cataracts, mental retardation and Fanconi syndrome of the kidney proximal tubules. ...I will then discuss possible mechanisms by which loss of OCRL1 may bring about c …
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder with the hallmark features of congenital cataracts, mental retardat …
JOHN LOWE.
[No authors listed] [No authors listed] Lancet. 1955 May 21;268(6873):1080. Lancet. 1955. PMID: 14368967 No abstract available.
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