Works matching DE "ANIRIDIA"

Results: 112

Chandelier retroillumination-assisted cataract surgery in two cases of congenital aniridia with severe aniridia-associated keratopathy: case series.

Published in:

Therapeutic Advances in Ophthalmology, 2024, p. 1, doi. 10.1177/25158414241302879

By:

Hu, Joseph;
Hu, Chao-Chien

Publication type:

Article

PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 5, p. 314, doi. 10.1002/acn3.297

By:

Yogarajah, Mahinda;
Matarin, Mar;
Vollmar, Christian;
Thompson, Pamela J.;
Duncan, John S.;
Symms, Mark;
Moore, Anthony T.;
Liu, Joan;
Thom, Maria;
Heyningen, Veronica;
Sisodiya, Sanjay M.

Publication type:

Article

Heterozygous PAX6 mutations may lead to hyper‐proinsulinaemia and glucose intolerance: A case–control study in families with congenital aniridia.

Published in:

Diabetic Medicine, 2021, v. 38, n. 2, p. 1, doi. 10.1111/dme.14456

By:

Tian, Wei;
Zhu, Xiao‐Rong;
Qiao, Chun‐Yan;
Ma, Ying‐Nan;
Yang, Fang‐Yuan;
Zhou, Zhen;
Feng, Jian‐Ping;
Sun, Ran;
Xie, Rong‐Rong;
Lu, Jing;
Cao, Xi;
Zhou, Jian‐Bo;
Yang, Jin‐Kui

Publication type:

Article

Bilateral Deep Sclerectomy with Microperforations as a Successful Secondary Procedure in Aniridia-Associated Glaucoma.

Published in:

Middle East African Journal of Ophthalmology, 2018, v. 25, n. 1, p. 52, doi. 10.4103/meajo.MEAJO_291_17

By:

AlDarrab, Abdulrahman;
Malik, Rizwan

Publication type:

Article

Bilateral Optic Nerve Aplasia: A Rare Isolated Central Nervous System Anomaly.

Published in:

2014

By:

Khandgave, Tejaswini P.;
Kulkarni, Varsha N.;
Muzumdar, Deepa V.;
Puthran, Neelam

Publication type:

Case Study

Rare Association of Familial Aniridia, Microcornea with Myopia and Aphakia.

Published in:

2014

By:

Biswas, Jaya;
Chakrabarti, Asim;
Das, Debabrata

Publication type:

Case Study

Bilateral Traumatic Expulsive Aniridia after Phacoemulsification.

Published in:

Middle East African Journal of Ophthalmology, 2012, v. 19, n. 3, p. 334, doi. 10.4103/0974-9233.97948

By:

Oltra, Erica Z.;
Chow, Clement C.;
Lunde, Mark W.

Publication type:

Article

Aniridia-related keratopathy: Structural changes in naïve and transplanted corneal buttons.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198822

By:

Vicente, André;
Byström, Berit;
Lindström, Mona;
Stenevi, Ulf;
Pedrosa Domellöf, Fátima

Publication type:

Article

Five year outcomes of Boston type I keratoprosthesis as primary versus secondary penetrating corneal procedure in a matched case control study.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192381

By:

Kang, Kai B.;
Karas, Faris I.;
Rai, Ruju;
Hallak, Joelle A.;
Kang, Joann J.;
de la Cruz, Jose;
Cortina, Maria S.

Publication type:

Article

Identification of a novel PAX6 mutation in a Chinese family with aniridia.

Published in:

2019

By:

Qiu, Jing-Jing;
Zhang, Qian;
Geng, Zi-xin;
Liu, Min;
Zhong, Zi-lin;
Chen, Jian-jun;
Liu, Fei

Publication type:

journal article

Clinical features and outcome of corneal opacity associated with congenital glaucoma.

Published in:

2018

By:

Kim, Yu Jeong;
Jeoung, Jin Wook;
Kim, Mee Kum;
Park, Ki Ho;
Yu, Young Suk;
Oh, Joo Youn

Publication type:

journal article

Clinical spectrum of blunted foveal contour.

Published in:

Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414211070864

By:

Muns, Sofía M.;
Villegas, Victor M.;
Schwartz, Stephen G.

Publication type:

Article

Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria.

Published in:

Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211019513

By:

Ugalahi, Mary Ogbenyi;
Ibukun, Folahan Adesola;
Olusanya, Bolutife Ayokunnu;
Baiyeroju, Aderonke Mojisola

Publication type:

Article

Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis.

Published in:

Clinical Case Reports, 2015, v. 3, n. 7, p. 676, doi. 10.1002/ccr3.319

By:

Shields, Rebecca A.;
Cavuoto, Kara M.;
McKeown, Craig A.;
Chang, Ta C.

Publication type:

Article

Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients.

Published in:

2015

By:

Dobrowolski, Dariusz;
Orzechowska-Wylegala, Boguslawa;
Wowra, Bogumil;
Wroblewska-Czajka, Ewa;
Grolik, Maria;
Szczubialka, Krzysztof;
Nowakowska, Maria;
Puzzolo, Domenico;
Wylegala, Edward A.;
Micali, Antonio;
Aragona, Pasquale

Publication type:

journal article

Increased Corneal Epithelial Turnover Contributes to Abnormal Homeostasis in the <i>Pax6<sup>+/−</sup></i> Mouse Model of Aniridia.

Published in:

PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071117

By:

Douvaras, Panagiotis;
Mort, Richard L.;
Edwards, Dominic;
Ramaesh, Kanna;
Dhillon, Baljean;
Morley, Steven D.;
Hill, Robert E.;
West, John D.

Publication type:

Article

Identification of a Non-Stop Mutation in PAX6 Causing a Unique Presentation of Aniridia in an Iranian Family Trial.

Published in:

Acta Medica Iranica, 2018, v. 56, n. 2, p. 84

By:

Zarei-Ghanavati, Mehran;
Ghaffari, Reza;
Abedkhojasteh, Hoda;
Raoufian, Kasra;
Raoofian, Reza;
Mohebbi, Masoumehe;
Heidari, Mansour

Publication type:

Article

Increased functional connectivity in intrinsic neural networks in individuals with aniridia.

Published in:

Frontiers in Human Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnhum.2014.01013

By:

Pierce, Jordan E.;
Krafft, Cynthia E.;
Rodrigue, Amanda L.;
Bobilev, Anastasia M.;
Lauderdale, James D.;
McDowell, Jennifer E.

Publication type:

Article

UBC-VCH uses drug to repair rare birth defect.

Published in:: British Columbia Medical Journal, 2014, v. 56, n. 1, p. 41
Publication type:: Article

Traumatic aniridia after trabeculectomy.

Published in:

Eye (0950-222X), 2014, v. 28, n. 6, p. 771, doi. 10.1038/eye.2014.45

By:

Yip, K P;
Ngai, L-Y;
Kumarasamy, M

Publication type:

Article

In vivo confocal microscopy of congenital aniridia-associated keratopathy.

Published in:

Eye (0950-222X), 2013, v. 27, n. 6, p. 763, doi. 10.1038/eye.2013.50

By:

Le, Q;
Deng, S X;
Xu, J

Publication type:

Article

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Published in:

Eye (0950-222X), 2011, v. 25, n. 12, p. 1581, doi. 10.1038/eye.2011.215

By:

Zhang, X;
Tong, Y;
Xu, W;
Dong, B;
Yang, H;
Xu, L;
Li, Y

Publication type:

Article

A Clinical and Genetic Review of Aniridia.

Published in:

Journal of Pediatrics Review, 2015, p. 1, doi. 10.17795/jpr-241

By:

Jafari, Reza;
Amiri, Ahmad Ahmadzadeh

Publication type:

Article

Congenital Aniridia with Ectopia Lentis.

Published in:

2016

By:

KUSUMESH, RAKHI;
AMBASTHA, ANITA

Publication type:

Case Study

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 639, doi. 10.1111/cge.13019

By:

Vasilyeva, T.A.;
Voskresenskaya, A.A.;
Käsmann-Kellner, B.;
Khlebnikova, O.V.;
Pozdeyeva, N.A.;
Bayazutdinova, G.M.;
Kutsev, S.I.;
Ginter, E.K.;
Semina, E.V.;
Marakhonov, A.V.;
Zinchenko, R.A.

Publication type:

Article

Assessment of PAX6 alleles in 66 families with aniridia.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 669, doi. 10.1111/cge.12708

By:

Bobilev, A.M.;
McDougal, M.E.;
Taylor, W.L.;
Geisert, E.E.;
Netland, P.A.;
Lauderdale, J.D.

Publication type:

Article

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 68, doi. 10.1111/cge.12329

By:

Fernandes‐Lima, Z.S.;
Paixão‐Côrtes, V.R.;
de Andrade, A.K.M.;
Fernandes, A.S.;
Coronado, B.N.L.;
Monte Filho, H.P.;
Santos, M.J.;
de Omena Filho, R.L.;
Biondi, F.C.;
Ruiz‐Linares, A.;
Ramallo, V.;
Hünemeier, T.;
Schuler‐Faccini, L.;
Monlleó, I.L.

Publication type:

Article

Anesthetic management of a patient with Wilms tumor, aniridia, genital anomalies and mental retardation syndrome undergoing right nephrectomy.

Published in:

2015

By:

Shetti, Akshaya N.;
Dhulkhed, Vithal K.;
Gujrathi, Amrish D.;
Sangolli, Swetha G.

Publication type:

Case Study

Short-Term Results Analysis in the Allogenic Transplantation of Limbal Stem Cells Expanded on Amniotic Membrane in Patients with Bilateral Limbal Stem Cell Deficiency.

Published in:

2020

By:

Serna-Ojeda, Juan Carlos;
García-Mejía, Mariana;
Graue-Hernández, Enrique O.;
Navas, Alejandro;
Garfias, Yonathan

Publication type:

journal article

Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

Published in:

Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9

By:

Syrimis, Andreas;
Nicolaou, Nayia;
Alexandrou, Angelos;
Papaevripidou, Ioannis;
Nicolaou, Michael;
Loukianou, Eleni;
Christophidou-Anastasiadou, Violetta;
Malas, Stavros;
Sismani, Carolina;
Tanteles, George A.

Publication type:

Article

Toward postnatal reversal of ocular congenital malformations.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 1, p. 81, doi. 10.1172/JCI73560

By:

Sahel, José-Alain;
Marazova, Katia

Publication type:

Article

Long-term results after artificial iris implantation in patients with aniridia.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 7, p. 1419, doi. 10.1007/s00417-016-3292-3

By:

Rickmann, Annekatrin;
Szurman, Peter;
Januschowski, Kai;
Waizel, Maria;
Spitzer, Martin;
Boden, Karl;
Szurman, Gesine

Publication type:

Article

Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation.

Published in:

2013

By:

Forlini, Cesare;
Forlini, Matteo;
Cavallini, Gian

Publication type:

Letter

Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2013, v. 251, n. 3, p. 667, doi. 10.1007/s00417-012-2254-7

By:

Forlini, Cesare;
Forlini, Matteo;
Rejdak, Robert;
Prokopiuk, Agata;
Levkina, Oxana;
Bratu, Adriana;
Rossini, Paolo;
Cagampang, Perfecto;
Cavallini, Gian

Publication type:

Article

Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2022, v. 52, n. 3, p. 208, doi. 10.4274/tjo.galenos.2022.01057

By:

Athanasiadis, Ioannis;
Tsatsos, Michael;
Ziakas, Nikolaos

Publication type:

Article

Short- and Long-term Results of Glaucoma Valve Implantation for Aniridia-related Glaucoma: A Case Series and Literature Review.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2019, v. 49, n. 4, p. 183, doi. 10.4274/tjo.galenos.2019.07348

By:

Demirok, Gülizar Soyugelen;
Ekşioğlu, Ümit;
Yakın, Mehmet;
Kaderli, Ahmet;
Kaderli, Sema Tamer;
Örnek, Firdevs

Publication type:

Article

Psödofakik Hastada Künt Oküler Travmayı Takiben Gelişen Travmatik Aniridi.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2014, v. 44, n. 1, p. 80, doi. 10.4274/tjo.81567

By:

Gencer, Baran;
Kara, Selçuk;
Tufan, Hasan Ali;
Çömez, Arzu Taşkıran;
Arıkan, Sedat

Publication type:

Article

Black Diaphragm Intraocular Lens in Patients with Aniridia.

Published in:

Journal of Ophthalmic & Vision Research, 2020, v. 15, n. 4, p. 584, doi. 10.18502/jovr.v15i4.7801

By:

Srirampur, Arjun;
Balijepalli, Pasyanthi

Publication type:

Article

Black diaphragm intraocular lens implantation in patients with aniridia.

Published in:

Journal of Ophthalmic & Vision Research, 2019, v. 14, n. 1, p. 27, doi. 10.4103/jovr.jovr_244_17

By:

Al-Rashidi, Sultan

Publication type:

Article

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172363

By:

Blanco-Kelly, Fiona;
Palomares, María;
Vallespín, Elena;
Villaverde, Cristina;
Martín-Arenas, Rubén;
Vélez-Monsalve, Camilo;
Lorda-Sánchez, Isabel;
Nevado, Julián;
Trujillo-Tiebas, María José;
Lapunzina, Pablo;
Ayuso, Carmen;
Corton, Marta

Publication type:

Article

Congenital aniridia: etiology, manifestations and management.

Published in:

Expert Review of Ophthalmology, 2016, v. 11, n. 2, p. 135, doi. 10.1586/17469899.2016.1152182

By:

Samant, Monica;
Chauhan, Bharesh K.;
Lathrop, Kira L.;
Nischal, Ken K.

Publication type:

Article

Traumatic aniridia in spared-lens open-globe rupture eye trauma.

Published in:

2011

By:

Gualtieri, William;
Cauchi, David;
Agius, Maria

Publication type:

Letter

A Case Report of Familial Congenital Aniridia and Oculocutaneous Albinism with an Emphasis on Multifaceted and Multidisciplinary Patient Management.

Published in:

Optometry & Visual Performance, 2022, v. 10, n. 3, p. 139

By:

Schwalbe, Rachel;
Ross, Nicole

Publication type:

Article

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.

Published in:

Clinical & Experimental Ophthalmology, 2017, v. 45, n. 9, p. 875, doi. 10.1111/ceo.12982

By:

Pérez‐Solórzano, Sofía;
Chacón‐Camacho, Oscar F;
Astiazarán, Mirena C;
Ledesma‐Gil, Gerardo;
Zenteno, Juan Carlos

Publication type:

Article

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

Published in:

Clinical & Experimental Ophthalmology, 2013, v. 41, n. 9, p. 835, doi. 10.1111/ceo.12109

By:

Peter, Neena M;
Leyland, Martin;
Mudhar, Hardeep S;
Lowndes, Jo;
Owen, Katharine R;
Stewart, Helen

Publication type:

Article

Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia.

Published in:

Clinical & Experimental Ophthalmology, 2013, v. 41, n. 7, p. 653, doi. 10.1111/ceo.12067

By:

Ruddle, Jonathan B;
Staffieri, Sandra E;
Crowston, Jonathan G;
Sherwin, Justin C;
Mackey, David A

Publication type:

Article

Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated.

Published in:

Journal of Diabetes Investigation, 2015, v. 6, n. 1, p. 105, doi. 10.1111/jdi.12251

By:

Osawa, Saeko;
Yasuda, Tetsuyuki;
Kaneto, Hideaki;
Shimo, Naoki;
Yamamoto, Yuichi;
Kawamori, Dan;
Miyatsuka, Takeshi;
Matsuoka, Taka‐aki;
Shimomura, Iichiro

Publication type:

Article

A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 1081, doi. 10.2147/OPTH.S80444

By:

Tadamichi Akagi;
Munemitsu Yoshikawa;
Hideo Nakanishi;
Nagahisa Yoshimura

Publication type:

Article

Keratopathy, cataract, and dry eye in a survey of aniridia subjects.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 291, doi. 10.2147/OPTH.S74648

By:

DavidShiple;
Finklea, Brenton;
Lauderdale, James D.;
Netland, Peter A.

Publication type:

Article

Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.

Published in:

Journal of Ophthalmology, 2019, p. 1, doi. 10.1155/2019/5642126

By:

Huang, Liqin;
Meng, Yong;
Guo, Xiangming

Publication type:

Article