Works matching DE "ANIRIDIA"

Results: 112

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

Triads in Ophthalmology: A Comprehensive Review.

Published in:

2017

By:

Tripathy, Koushik;
Sharma, Yog Raj;
Chawla, Rohan;
Basu, Koushik;
Vohra, Rajpal;
Venkatesh, Pradeep

Publication type:

journal article

ExPRESS Shunt Surgery for Glaucoma with Post-Traumatic Aniridia.

Published in:

Seminars in Ophthalmology, 2015, v. 30, n. 3, p. 218, doi. 10.3109/08820538.2013.835845

By:

Huerva, Valentín;
Carmen Sanchez, M.;
Jesus Muniesa, M.

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

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

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 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

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

Coexisting conditions can alter aniridia approach.

Published in:

Ocular Surgery News, 2015, v. 33, n. 7, p. 65

By:

Jacob, Soosan;
Kumar, Dhivya Ashok;
Agarwal, Amar

Publication type:

Article

Glued iris prosthesis can be used in eyes with congenital aniridia, subluxated cataract.

Published in:

Ocular Surgery News, 2012, v. 30, n. 3, p. 6

By:

John, Thomas;
Agarwal, Amar

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

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

Congenital aniridia with cataract: case series.

Published in:

2017

By:

Jin Da Wang;
Jing Shang Zhang;
Ying Xiong;
Jing Li;
Xiao Xia Li;
Xue Liu;
Jing Zhao;
Tsai, Frank F.;
Vishal, Jhanji;
Qi Sheng You;
Yao Huang;
Xiu Hua Wan;
Wang, Jin Da;
Zhang, Jing Shang;
Xiong, Ying;
Li, Jing;
Li, Xiao Xia;
Liu, Xue;
Zhao, Jing;
You, Qi Sheng

Publication type:

journal article

Congenital Aniridia with Ectopia Lentis.

Published in:

2016

By:

KUSUMESH, RAKHI;
AMBASTHA, ANITA

Publication type:

Case Study

Aniridia: A Comparative Overview.

Published in:

American Orthoptic Journal, 2014, v. 64, n. 1, p. 98, doi. 10.3368/aoj.64.1.98

By:

Schanilec, Paula;
Biernacki, Ronald

Publication type:

Article

Positive Angle Kappa: A Possible Sign of Aniridia.

Published in:

American Orthoptic Journal, 2012, v. 62, n. 1, p. 70, doi. 10.3368/aoj.62.1.70

By:

Merrill, Kimberly S.;
Summers, C. Gail

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

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

Chronic post-operative iris prosthesis endophthalmitis in a patient with traumatic aniridia: a case report.

Published in:

2016

By:

Firl, Kevin C.;
Montezuma, Sandra R.

Publication type:

Case Study

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

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

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.

Published in:

Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/5978293

By:

Wang, Grace M.;
Prasov, Lev;
Al-Hasani, Hayder;
Marrs, Colin E. R.;
Tolia, Sahil;
Wiinikka-Buesser, Laurel;
Richards, Julia E.;
Bohnsack, Brenda L.

Publication type:

Article

Prevalence, Incidence, and Risk Factors for the Development of Glaucoma in Patients With Aniridia.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2017, v. 54, n. 4, p. 250, doi. 10.3928/01913913-20170322-01

By:

Balekudaru, Shantha;
Sankaranarayanan, Nandhini;
Agarkar, Sumita

Publication type:

Article

Clinical Manifestations of Congenital Aniridia.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2014, v. 51, n. 1, p. 7, doi. 10.3928/01913913-20131223-01

By:

Singh, Bhupesh;
Mohamed, Ashik;
Chaurasia, Sunita;
Ramappa, Muralidhar;
Mandal, Anil Kumar;
Jalali, Subhadra;
Sangwan, Virender S.

Publication type:

Article

Posterior Chamber Intraocular Lens Stabilization With a Transcameral Stay Suture.

Published in:

2012

By:

Khan, Arif O.;
Walton, David S.

Publication type:

Image

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

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153757

By:

Ansari, Morad;
Rainger, Jacqueline;
Hanson, Isabel M.;
Williamson, Kathleen A.;
Sharkey, Freddie;
Harewood, Louise;
Sandilands, Angela;
Clayton-Smith, Jill;
Dollfus, Helene;
Bitoun, Pierre;
Meire, Francoise;
Fantes, Judy;
Franco, Brunella;
Lorenz, Birgit;
Taylor, David S.;
Stewart, Fiona;
Willoughby, Colin E.;
McEntagart, Meriel;
Khaw, Peng Tee;
Clericuzio, Carol

Publication type:

Article

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.

Published in:

2018

By:

De Silva, Daham;
Williamson, Kathleen A.;
Dayasiri, Kavinda Chandimal;
Suraweera, Nayani;
Quinters, Vinushiya;
Abeysekara, Hiranya;
Wanigasinghe, Jithangi;
De Silva, Deepthi;
De Silva, Harendra

Publication type:

journal article

Combined transscleral fixation of an artificial iris prosthesis with an intraocular lens.

Published in:

2016

By:

GUNENC, UZEYIR;
OZTURK, TAYLAN;
ARIKAN, GUL;
KAYA, MAHMUT

Publication type:

Case Study

Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye.

Published in:

2016

By:

KYEONG HWAN KIM;
WAN SOO KIM

Publication type:

Case Study

Implication of non-coding PAX6 mutations in aniridia.

Published in:

Human Genetics, 2018, v. 137, n. 10, p. 831, doi. 10.1007/s00439-018-1940-x

By:

Plaisancié, Julie;
Tarilonte, M.;
Ramos, P.;
Jeanton-Scaramouche, C.;
Gaston, V.;
Dollfus, H.;
Aguilera, D.;
Kaplan, J.;
Fares-Taie, L.;
Blanco-Kelly, F.;
Villaverde, C.;
Francannet, C.;
Goldenberg, A.;
Arroyo, I.;
Rozet, J. M.;
Ayuso, C.;
Chassaing, N.;
Calvas, P.;
Corton, M.

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

A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep04836

By:

Jianfu Zhuang;
Xiaole Chen;
Zhihua Tan;
Yihua Zhu;
Kanxing Zhao;
Juhua Yang

Publication type:

Article

Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation.

Published in:

Pigment Cell & Melanoma Research, 2014, v. 27, n. 4, p. 580, doi. 10.1111/pcmr.12236

By:

Sarode, Bhushan;
Nowell, Craig S.;
Ihm, JongEun;
Kostic, Corinne;
Arsenijevic, Yvan;
Moulin, Alexandre P.;
Schorderet, Daniel F.;
Beermann, Friedrich;
Radtke, Freddy

Publication type:

Article

Both PAX6 and MITF are required for pigment epithelium development in vivo.

Published in:

Pigment Cell & Melanoma Research, 2012, v. 25, n. 5, p. 541, doi. 10.1111/j.1755-148X.2012.01037.x

By:

Saule, Simon

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

Sustained endocrine profiles of a girl with WAGR syndrome.

Published in:

2017

By:

Yui Takada;
Yasunari Sakai;
Yuki Matsushita;
Kazuhiro Ohkubo;
Yuhki Koga;
Satoshi Akamine;
Michiko Torio;
Yoshito Ishizaki;
Masafumi Sanefuji;
Hiroyuki Torisu;
Shaw, Chad A.;
Masayo Kagami;
Toshiro Hara;
Shouichi Ohga

Publication type:

Case Study

Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-63

By:

Ming Ying;
Ruifang Han;
Peng Hao;
Liming Wang;
Ningdong Li

Publication type:

Article

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

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

Esophageal Dysmotility in Gillespie Syndrome.

Published in:

2013

By:

Cassão, Bruna Dell'Acqua;
de Rezende, Daniel Tavares;
Silva, Luciana C.;
Herbella, Fernando A. M.

Publication type:

Case Study

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

HCA management of rare health and disability conditions: Noonan syndrome and aniridia.

Published in:

British Journal of Healthcare Assistants, 2017, v. 11, n. 6, p. 288, doi. 10.12968/bjha.2017.11.6.288

By:

Barber, Chris

Publication type:

Article

The artificial iris - Analysis of various implantation techniques after ocular trauma.

Published in:

2021

By:

Krishnan, V;
Todorova, Margarita;
Wiechens, Burkhard;
Valmaggia, Christophe;
Varde, Meghana;
Krishnan, V Murali;
Todorova, Margarita G;
Varde, Meghana A

Publication type:

journal article