Citations (30)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (3)
Maria D. Garcia, Diva R. Salomao & Lilly H. Wagner. (2022) Orbital Cyst with Ependymal Differentiation Associated with Microphthalmia. Fetal and Pediatric Pathology 41:2, pages 278-280.
Read now
Read now
Erzsébet H. Puhó, Gábor Vogt, Melinda Csáky-Szunyogh, Júlia Métneki & Andrew E. Czeizel. (2008) Maternal Demographic and Socioeconomic Characteristics of Live-Born Infants With Isolated Ocular Congenital Abnormalities. Ophthalmic Epidemiology 15:4, pages 257-263.
Read now
Read now
Mariya Moosajee & Cheryl Y Gregory-Evans. (2006) Advances in the molecular genetics of ocular coloboma. Expert Review of Ophthalmology 1:2, pages 209-227.
Read now
Read now
Articles from other publishers (27)
Evan B. Selzer, Delphine Blain, Robert B. Hufnagel, Philip J. Lupo, Laura E. Mitchell & Brian P. Brooks. (2022) Review of evidence for environmental causes of uveal coloboma. Survey of Ophthalmology 67:4, pages 1031-1047.
Crossref
Crossref
Shailja Tibrewal, Ketaki Subhedar, Pradnya Sen, Amit Mohan, Shivanand Singh, Chintan Shah, Ken K Nischal & Suma Ganesh. (2021) Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India. British Journal of Ophthalmology 105:7, pages 897-903.
Crossref
Crossref
Suwarna Suman, Arushi Kumar, Hement Uttamraw Rathod & Taruna Yadav. (2021) Bilateral severe microphthalmos with bilateral colobomatus orbitopalpebral cyst: accessibility of speciality eye-care and rehabilitation services in low and middle-income countries. BMJ Case Reports 14:5, pages e241783.
Crossref
Crossref
Inês Q. Saraiva & Esmeralda Delgado. (2020) Congenital ocular malformations in dogs and cats: 123 cases. Veterinary Ophthalmology 23:6, pages 964-978.
Crossref
Crossref
Lauren J Green, Lorraine O’Neill & Charlotte J Frise. (2018) Antisynthetase syndrome in pregnancy: A case and review of the literature. Obstetric Medicine 13:2, pages 96-100.
Crossref
Crossref
Cheryl Y. Gregory-Evans, Xia Wang & Kevin Gregory-Evans. (2019) Prospects and modalities for the treatment of genetic ocular anomalies. Human Genetics 138:8-9, pages 1019-1026.
Crossref
Crossref
Aara Patel & Jane C. Sowden. (2019) Genes and pathways in optic fissure closure. Seminars in Cell & Developmental Biology 91, pages 55-65.
Crossref
Crossref
Mingzhe Cao, Jiamin Ouyang, Huilin Liang, Jingyi Guo, Siyuan Lin, Shulan Yang, Ting Xie & Shuyi Chen. (2018) Regional Gene Expression Profile Comparison Reveals the Unique Transcriptome of the Optic Fissure. Investigative Opthalmology & Visual Science 59:15, pages 5773.
Crossref
Crossref
Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby & Shamim Saleha. (2018) Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. BMC Medical Genetics 19:1.
Crossref
Crossref
Maria Kaukonen, Sean Woods, Saija Ahonen, Seppo Lemberg, Maarit Hellman, Marjo K. Hytönen, Perttu Permi, Tom Glaser & Hannes Lohi. (2018) Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Cell Reports 23:9, pages 2643-2652.
Crossref
Crossref
Xiu-Feng Huang, Zhi-Qin Huang, Dan Lin, Ma-Li Dai, Qing-Feng Wang, Zhen-Ji Chen, Zi-Bing Jin & Yuqin Wang. (2017) Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. Scientific Reports 7:1.
Crossref
Crossref
Julie Plaisancié, Dominique Brémond-Gignac, Bénédicte Demeer, Véronique Gaston, Alain Verloes, Lucas Fares-Taie, Sylvie Gerber, Jean-Michel Rozet, Patrick Calvas & Nicolas Chassaing. (2016) Incomplete penetrance of biallelic ALDH1A3 mutations. European Journal of Medical Genetics 59:4, pages 215-218.
Crossref
Crossref
. 2016. Diagnostic Imaging: Obstetrics. Diagnostic Imaging: Obstetrics
286
287
.
D. Kelberman, L. Islam, J. Lakowski, C. Bacchelli, E. Chanudet, F. Lescai, A. Patel, E. Stupka, A. Buck, S. Wolf, P. L. Beales, T. S. Jacques, M. Bitner-Glindzicz, A. Liasis, O. J. Lehmann, J. Kohlhase, K. K. Nischal & J. C. Sowden. (2014) Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Human Molecular Genetics 23:10, pages 2511-2526.
Crossref
Crossref
Adi Mory, Francesc X Ruiz, Efrat Dagan, Evgenia A Yakovtseva, Alina Kurolap, Xavier Parés, Jaume Farrés & Ruth Gershoni-Baruch. (2013) A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. European Journal of Human Genetics 22:3, pages 419-422.
Crossref
Crossref
Cheryl Y. Gregory-Evans, Valerie A. Wallace & Kevin Gregory-Evans. (2013) Gene networks: Dissecting pathways in retinal development and disease. Progress in Retinal and Eye Research 33, pages 40-66.
Crossref
Crossref
Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E. Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N. Kennedy, SallyAnn Lynch, Andrew Green & Sean Ennis. (2011)
First implication of
STRA6
mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the
STRA6
phenotype
. Human Mutation 32:12, pages 1417-1426.
Crossref
Crossref
Patricia A. Gongal, Curtis R. French & Andrew J. Waskiewicz. (2011) Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1812:3, pages 390-401.
Crossref
Crossref
Gregg Duester. (2009) Keeping an eye on retinoic acid signaling during eye development. Chemico-Biological Interactions 178:1-3, pages 178-181.
Crossref
Crossref
Chunqiao LiuJeremy Nathans. (2008) An essential role for frizzled 5 in mammalian ocular development. Development 135:21, pages 3567-3576.
Crossref
Crossref
Michael J Cork, Simon Danby, Yiannis Vasilopoulos, Manar Moustafa, Alice MacGowan, Jibu Varghese, Gordon W Duff, Rachid Tazi-Ahnini & Simon J Ward. 2008. Textbook of Atopic Dermatitis. Textbook of Atopic Dermatitis
35
58
.
Michael J. Cork, Simon Danby, Yiannis Vasilopoulos, Manar Moustafa, Alice MacGowan, Jibu Varghese, Gordon W. Duff, Rachid Tazi-Ahnini & Simon J. Ward. (2008) Gene–environment interactions in atopic dermatitis. Drug Discovery Today: Disease Mechanisms 5:1, pages e11-e31.
Crossref
Crossref
Lan Chang, Delphine Blain, Stefano Bertuzzi & Brian P Brooks. (2006) Uveal coloboma: clinical and basic science update. Current Opinion in Ophthalmology 17:5, pages 447-470.
Crossref
Crossref
Michael J. Cork, Darren A. Robinson, Yiannis Vasilopoulos, Adam Ferguson, Manar Moustafa, Alice MacGowan, Gordon W. Duff, Simon J. Ward & Rachid Tazi-Ahnini. (2006) New perspectives on epidermal barrier dysfunction in atopic dermatitis: Gene–environment interactions. Journal of Allergy and Clinical Immunology 118:1, pages 3-21.
Crossref
Crossref
Andrei MolotkovNatalia MolotkovaGregg Duester. (2006) Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning. Development 133:10, pages 1901-1910.
Crossref
Crossref
Nicola K. Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J. Richard O. Collin, Anthony J. Vivian, Samantha L. Free, Pamela Thompson, Kathleen A. Williamson, Sanjay M. Sisodiya, Veronica van Heyningen & David R. FitzPatrick. (2005)
SOX2
anophthalmia syndrome
. American Journal of Medical Genetics Part A 135A:1, pages 1-7.
Crossref
Crossref
. (2002) Current Awareness. Prenatal Diagnosis 22:7, pages 638-644.
Crossref
Crossref