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

Year Number of Results
1945 1
1946 2
1947 4
1948 1
1949 2
1950 2
1951 1
1952 2
1953 2
1954 2
1955 1
1956 1
1957 1
1961 4
1962 1
1963 1
1964 1
1965 3
1966 1
1968 2
1969 2
1970 3
1971 8
1972 3
1973 3
1974 3
1975 5
1976 7
1977 14
1978 5
1979 2
1980 10
1981 17
1982 9
1983 9
1984 15
1985 19
1986 18
1987 20
1988 20
1989 19
1990 16
1991 25
1992 22
1993 24
1994 19
1995 24
1996 28
1997 36
1998 32
1999 31
2000 32
2001 26
2002 34
2003 41
2004 44
2005 42
2006 41
2007 46
2008 44
2009 65
2010 59
2011 60
2012 63
2013 52
2014 73
2015 71
2016 66
2017 76
2018 74
2019 75
2020 93
2021 95
2022 85
2023 77
2024 23

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1,765 results

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Page 1
Ocular coloboma-a comprehensive review for the clinician.
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Lingam G, et al. Eye (Lond). 2021 Aug;35(8):2086-2109. doi: 10.1038/s41433-021-01501-5. Epub 2021 Mar 21. Eye (Lond). 2021. PMID: 33746210 Free PMC article. Review.
Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. ...However, a majority of the eyes have the optic di …
Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, h …
Ocular coloboma.
Pagon RA. Pagon RA. Surv Ophthalmol. 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. Surv Ophthalmol. 1981. PMID: 6782689 Review.
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. ...Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a sing …
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anoph …
The deceptive coloboma.
Ratra D, Mohan S, Nadig R, Kashyap H. Ratra D, et al. Indian J Ophthalmol. 2023 Jun;71(6):2632. doi: 10.4103/IJO.IJO_250_23. Indian J Ophthalmol. 2023. PMID: 37322728 Free PMC article.
A scleral fistula was suspected at the temporal edge of the coloboma but could not be accurately localized. In addition, due to the edge effect of the coloboma, the external repair was difficult. ...Traumatic scleral fistula, at a difficult place such as the edge of …
A scleral fistula was suspected at the temporal edge of the coloboma but could not be accurately localized. In addition, due to the e …
Renal coloboma syndrome.
Schimmenti LA. Schimmenti LA. Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654726 Free PMC article. Review.
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the …
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dys …
Ocular colobomata.
Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E. Onwochei BC, et al. Surv Ophthalmol. 2000 Nov-Dec;45(3):175-94. doi: 10.1016/s0039-6257(00)00151-x. Surv Ophthalmol. 2000. PMID: 11094243 Review.
Ocular colobomata present diagnostic and therapeutic challenges in patients of all ages, but especially in young children. The "typical" coloboma, caused by defective closure of the fetal fissure, is located in the inferonasal quadrant, and it may affect any part of the gl …
Ocular colobomata present diagnostic and therapeutic challenges in patients of all ages, but especially in young children. The "typical" …
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
George A, Cogliati T, Brooks BP. George A, et al. Exp Eye Res. 2020 Apr;193:107940. doi: 10.1016/j.exer.2020.107940. Epub 2020 Feb 4. Exp Eye Res. 2020. PMID: 32032630 Free PMC article. Review.
Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spec …
Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-ca …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p....We propose that dysregulation of the WDR37-PACS1-PACS2 axis results in a spectrum …
We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo h …
ABCB6 mutations cause ocular coloboma.
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. Wang L, et al. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5. Am J Hum Genet. 2012. PMID: 22226084 Free PMC article.
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. ...Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and …
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. ...Sequence a …
Atypical superior iris and chorioretinal coloboma.
Parakh S, Das S, Maheshwari S, Luthra G, Luthra S. Parakh S, et al. Indian J Ophthalmol. 2022 Jul;70(7):2665-2666. doi: 10.4103/ijo.IJO_164_22. Indian J Ophthalmol. 2022. PMID: 35791195 Free PMC article. No abstract available.
An update on the genetics of ocular coloboma.
ALSomiry AS, Gregory-Evans CY, Gregory-Evans K. ALSomiry AS, et al. Hum Genet. 2019 Sep;138(8-9):865-880. doi: 10.1007/s00439-019-02019-3. Epub 2019 May 9. Hum Genet. 2019. PMID: 31073883 Review.
Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be identified from birth. ...In particular, as a consequence of work to identify genetic causes of coloboma, new molecular pathways that control optic fissure closure have now bee …
Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be identified from birth. ...In particular, as …
1,765 results