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

Year Number of Results
1958 2
1960 1
1963 1
1964 5
1966 3
1967 3
1968 5
1969 5
1970 5
1971 13
1972 6
1973 10
1974 13
1975 17
1976 9
1977 21
1978 22
1979 17
1980 7
1981 19
1982 14
1983 28
1984 29
1985 13
1986 42
1987 27
1988 17
1989 34
1990 30
1991 38
1992 41
1993 44
1994 47
1995 42
1996 46
1997 53
1998 55
1999 45
2000 66
2001 42
2002 51
2003 51
2004 48
2005 67
2006 68
2007 62
2008 76
2009 72
2010 88
2011 92
2012 107
2013 139
2014 121
2015 119
2016 143
2017 126
2018 126
2019 134
2020 153
2021 180
2022 170
2023 125
2024 43

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2,935 results

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Quoted phrase not found in phrase index: "Ataxia-hypogonadism-choroidal dystrophy syndrome"
Page 1
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 (incomplete CS …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigment …
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J. Diñeiro M, et al. Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1. Acta Ophthalmol. 2020. PMID: 32483926 Free PMC article.
A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipido …
A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had be …
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to blindne …
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the firs …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alstrom Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, s …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
Walker-Warburg syndrome.
Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. ...It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and …
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and ey …
Myopathies.
Glasberg MR. Glasberg MR. Neurosurgery. 1979 Dec;5(6):747-58. doi: 10.1227/00006123-197912000-00017. Neurosurgery. 1979. PMID: 392333 Review.
The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne muscular dystrophy; myotonic disorders; glycogen storage diseases; disorders of lipid metabolism; mitochondrial diseases; and congenita …
The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne mu …
ROSAH syndrome mimicking chronic uveitis.
Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I. Fardeau C, et al. Clin Genet. 2023 Apr;103(4):453-458. doi: 10.1111/cge.14286. Epub 2022 Dec 30. Clin Genet. 2023. PMID: 36543582
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerv …
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five p …
Joubert syndrome: a review.
Saraiva JM, Baraitser M. Saraiva JM, et al. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415. Am J Med Genet. 1992. PMID: 1341417 Review.
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. ...We propose a classification of the patie …
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria f …
Emery-Dreifuss syndrome.
Emery AE. Emery AE. J Med Genet. 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637. J Med Genet. 1989. PMID: 2685312 Free PMC article. Review.
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiom …
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postce …
Reflex sympathetic dystrophy syndrome.
Kozin F. Kozin F. Curr Opin Rheumatol. 1994 Mar;6(2):210-6. doi: 10.1097/00002281-199403000-00016. Curr Opin Rheumatol. 1994. PMID: 8024969 Review.
There has been increasing interest in reflex sympathetic dystrophy syndrome (RSDS) over the past decade. This trend has continued over the past 2 years with the publication of a number of reports and studies, many of which are reviewed here. ...
There has been increasing interest in reflex sympathetic dystrophy syndrome (RSDS) over the past decade. This trend has contin …
2,935 results