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Year Number of Results
1787 1
1817 1
1818 1
1824 1
1828 3
1829 1
1830 7
1831 3
1833 1
1835 1
1838 1
1839 1
1840 1
1842 1
1843 3
1844 4
1845 4
1846 2
1847 2
1848 2
1849 3
1850 1
1851 1
1852 3
1853 2
1854 1
1855 4
1857 3
1858 4
1859 2
1860 1
1861 1
1863 1
1864 2
1865 4
1866 3
1867 4
1868 3
1869 1
1870 6
1872 4
1873 11
1874 4
1875 5
1876 3
1877 4
1878 15
1879 3
1880 3
1881 4
1882 3
1883 7
1884 8
1885 7
1886 6
1887 4
1888 9
1889 9
1890 5
1891 4
1892 7
1893 6
1894 13
1895 5
1896 4
1897 15
1898 7
1899 7
1900 7
1901 4
1902 4
1903 4
1904 7
1905 7
1906 5
1907 3
1908 20
1909 21
1910 17
1911 19
1912 22
1913 22
1914 20
1915 9
1916 11
1917 10
1918 14
1919 7
1920 21
1921 9
1922 11
1923 11
1924 12
1925 32
1926 12
1927 15
1928 10
1929 16
1930 17
1931 15
1932 8
1933 13
1934 11
1935 8
1936 7
1937 8
1938 14
1939 9
1940 10
1941 11
1942 9
1943 7
1944 4
1945 67
1946 199
1947 207
1948 225
1949 204
1950 294
1951 371
1952 357
1953 422
1954 406
1955 416
1956 432
1957 486
1958 495
1959 536
1960 508
1961 545
1962 617
1963 881
1964 1162
1965 1010
1966 1241
1967 1334
1968 1495
1969 1672
1970 1587
1971 1803
1972 1804
1973 2058
1974 2028
1975 2153
1976 2150
1977 2271
1978 2436
1979 2466
1980 2578
1981 2766
1982 2938
1983 3104
1984 3418
1985 3395
1986 3501
1987 3599
1988 3850
1989 4040
1990 4075
1991 4133
1992 4345
1993 4623
1994 4393
1995 4701
1996 4599
1997 4815
1998 5093
1999 5221
2000 5562
2001 5521
2002 5633
2003 5820
2004 6102
2005 6652
2006 7070
2007 7445
2008 7795
2009 8179
2010 8728
2011 9149
2012 10074
2013 10716
2014 11056
2015 11373
2016 11630
2017 11824
2018 11668
2019 12099
2020 13225
2021 13791
2022 13521
2023 13008
2024 5322

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320,459 results

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The following term was not found in PubMed: Kaldemeyer
Page 1
Did you mean cord caldemeyer (5 results)?
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomp …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis …
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital …
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: …
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. ...
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal …
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. ...In addition to the two known EYS founder m …
The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/ …
Gastrulation and Split Cord Malformation.
Tahir Z, Craven C. Tahir Z, et al. Adv Tech Stand Neurosurg. 2023;47:1-23. doi: 10.1007/978-3-031-34981-2_1. Adv Tech Stand Neurosurg. 2023. PMID: 37640870
Split cord malformation (SCM) is a rare form of closed spinal dysraphism, in which two hemi-cords are present, instead of a single spinal cord. ...
Split cord malformation (SCM) is a rare form of closed spinal dysraphism, in which two hemi-cords are present, instead of a single sp …
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.
PURPOSE: To assess the potential of next-generation sequencing (NGS) technologies to characterize cases diagnosed with autosomal recessive (ar) or sporadic (s) macular dystrophies (ar/sMD) and describe their mutational spectrum. METHODS: A cohort of 1036 families was class …
PURPOSE: To assess the potential of next-generation sequencing (NGS) technologies to characterize cases diagnosed with autosomal recessive ( …
Secondary Neurulation Defects: Retained Medullary Cord.
Kim KH, Lee JY, Wang KC. Kim KH, et al. Adv Tech Stand Neurosurg. 2023;47:215-223. doi: 10.1007/978-3-031-34981-2_7. Adv Tech Stand Neurosurg. 2023. PMID: 37640876
Retained medullary cord (RMC) is a defect resulting from impaired secondary neurulation. Intraoperatively, RMC is recognizable as an elongated cord-like structure caudal to the conus, that contains histologically confirmed neuroglial components and a lumen with an e …
Retained medullary cord (RMC) is a defect resulting from impaired secondary neurulation. Intraoperatively, RMC is recognizable as an …
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y. Xu K, et al. Br J Ophthalmol. 2020 Jul;104(7):932-937. doi: 10.1136/bjophthalmol-2019-314281. Epub 2019 Oct 19. Br J Ophthalmol. 2020. PMID: 31630094
We detected 158 different disease-causing mutations involving 14 LCA genes, 16 retinitis pigmentosa or cone-rod dystrophy genes and 3 syndromic retinal dystrophy genes. ...
We detected 158 different disease-causing mutations involving 14 LCA genes, 16 retinitis pigmentosa or cone-rod dystrophy gene …
[Achromatopsia].
Poloschek CM, Kohl S. Poloschek CM, et al. Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. doi: 10.1007/s00347-010-2178-8. Ophthalmologe. 2010. PMID: 20533046 Review. German.
A genetic examination is very helpful to distinguish achromatopsia from other stationary cone disorders like X-linked recessive blue cone monochromatism and from progressive cone and cone-rod dystrophies. It is the correct clinical and genetic diagnosis that …
A genetic examination is very helpful to distinguish achromatopsia from other stationary cone disorders like X-linked recessive blue cone mo …
Maintaining Cone Function in Rod-Cone Dystrophies.
Sahel JA, Léveillard T. Sahel JA, et al. Adv Exp Med Biol. 2018;1074:499-509. doi: 10.1007/978-3-319-75402-4_62. Adv Exp Med Biol. 2018. PMID: 29721982 Review.
Recent advances in genetics and gene therapy for inherited retinal dystrophies (IRDs) showed that therapeutic gene transfer holds a great promise for vision restoration in people with currently incurable blinding diseases. ...This review focuses on the rescue of cone funct …
Recent advances in genetics and gene therapy for inherited retinal dystrophies (IRDs) showed that therapeutic gene transfer holds a g …
320,459 results
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