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1970 3
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1980 5
1981 4
1982 3
1983 3
1984 4
1985 5
1986 3
1987 2
1988 4
1989 4
1990 5
1991 6
1992 4
1993 8
1994 6
1995 10
1996 16
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1998 13
1999 6
2000 10
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2002 17
2003 14
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2005 24
2006 24
2007 13
2008 25
2009 32
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703 results

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Quoted phrase not found in phrase index: "Colobomas, Uveoretinal"
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 …
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Mustillo PJ, et al. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648576 Free PMC article. Review.
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, he …
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DT …
Human facial dysostoses.
Wieczorek D. Wieczorek D. Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Clin Genet. 2013. PMID: 23565775 Review.
The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associ …
The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from wh …
DYRK1A retinopathy.
Cai L, Wakabayashi T, Yonekawa Y, Wasserman BN. Cai L, et al. J AAPOS. 2023 Apr;27(2):107-110. doi: 10.1016/j.jaapos.2022.12.002. Epub 2023 Feb 1. J AAPOS. 2023. PMID: 36736451
On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal or …
On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examinat …
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 …
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 …
CHARGE syndrome.
Blake KD, Prasad C. Blake KD, et al. Orphanet J Rare Dis. 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. Orphanet J Rare Dis. 2006. PMID: 16959034 Free PMC article. Review.
In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. ...Coloboma mainly affects the retina. Major and minor congenital heart defects (the co …
In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anom …
Congenital optic nerve anomalies.
Martín-Begué N, Saint-Gerons M. Martín-Begué N, et al. Arch Soc Esp Oftalmol. 2016 Dec;91(12):577-588. doi: 10.1016/j.oftal.2016.05.010. Epub 2016 Jul 1. Arch Soc Esp Oftalmol. 2016. PMID: 27378455 Review. English, Spanish.
Ocular blood vessel arrangement in choroidal coloboma.
Venkatesh R, Parmar Y, Chitturi SP, Mangla R, Yadav NK, Chhablani J. Venkatesh R, et al. Eye (Lond). 2023 Sep;37(13):2781-2787. doi: 10.1038/s41433-023-02420-3. Epub 2023 Jan 30. Eye (Lond). 2023. PMID: 36717708
Small choroidal colobomas lacked prominent choroidal vessels. Similarly, prominent extraocular episcleral vessels within the coloboma bed were observed in eyes with colobomas of types 1, 2, 3 and 7. Vortex veins were visible in 70% of coloboma eyes. Th …
Small choroidal colobomas lacked prominent choroidal vessels. Similarly, prominent extraocular episcleral vessels within the colob …
Autism spectrum disorders and epigenetics.
Grafodatskaya D, Chung B, Szatmari P, Weksberg R. Grafodatskaya D, et al. J Am Acad Child Adolesc Psychiatry. 2010 Aug;49(8):794-809. doi: 10.1016/j.jaac.2010.05.005. Epub 2010 Jul 3. J Am Acad Child Adolesc Psychiatry. 2010. PMID: 20643313 Review.
RESULTS: Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ea …
RESULTS: Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of …
703 results