Below are the most recent publications written about "Coloboma" by people in Profiles.
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Sinagoga KL, Larimer-Picciani AM, George SM, Spencer SA, Lister JA, Gross JM. Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure. Development. 2020 07 13; 147(21).
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Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ. Ocular and adnexal anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg. 2020 Sep; 49(9):1107-1114.
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Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
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Hardy H, Prendergast JG, Patel A, Dutta S, Trejo-Reveles V, Kroeger H, Yung AR, Goodrich LV, Brooks B, Sowden JC, Rainger J. Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion. Elife. 2019 06 04; 8.
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Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat Commun. 2019 03 12; 10(1):1180.
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Khan AO, Patel N, Ghazi NG, Alzahrani SS, Arold ST, Alkuraya FS. Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. Ophthalmic Genet. 2018 10; 39(5):577-583.
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Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. . 2018 03; 176(3):715-721.
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Koulouri I, Gaier ED, Eliott D, Vavvas DG. Double Optic Disc Pit With Glial Plugs Imaged by Wide-Field Optical Coherence Tomography. Ophthalmic Surg Lasers Imaging Retina. 2018 01 01; 49(1):52-54.
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Bowe T, Rahmani S, Yonekawa Y. Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome. Ophthalmology. 2017 12; 124(12):1742.
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Jeng-Miller KW, Cestari DM, Gaier ED. Congenital anomalies of the optic disc: insights from optical coherence tomography imaging. Curr Opin Ophthalmol. 2017 Nov; 28(6):579-586.