Works matching DE "ANIRIDIA"

Results: 112

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

Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 5, p. 4439, doi. 10.3892/mmr.2018.9469

By:

Lin, Ying;
Gao, Hongbin;
Zhu, Yi;
Chen, Chuan;
Li, Tao;
Liu, Bingqian;
Lyu, Cancan;
Huang, Ying;
Li, Haichun;
Wu, Qingxiu;
Jin, Chenjin;
Liang, Xiaoling;
Huang, Xinhua;
Lu, Lin

Publication type:

Article

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1623, doi. 10.3892/mmr.2018.9126

By:

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

Publication type:

Article

Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 3, p. 2150, doi. 10.3892/mmr.2016.5467

By:

BOZKAYA, OZLEM GIRAY;
ATAMAN, ESRA;
KILICARSLAN, OZGE AKSEL;
CANKAYA, TUFAN;
ULGENALP, AYFER

Publication type:

Article

Pathological Changes of the Anterior Lens Capsule.

Published in:

Journal of Ophthalmology, 2021, p. 1, doi. 10.1155/2021/9951032

By:

Liu, Wei;
Huang, Dandan;
Guo, Ruru;
Ji, Jian

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

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

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

Aniridia in Two Related Tennessee Walking Horses.

Published in:

Case Reports in Veterinary Medicine, 2013, p. 1, doi. 10.1155/2013/703732

By:

McCormick, Karen A.;
Ward, Daniel;
Newkirk, Kimberly M.

Publication type:

Article

Descemet's Stripping-Automated Endothelial Keratoplasty for Traumatic Aniridia and Aphakia.

Published in:

Case Reports in Ophthalmological Medicine, 2012, p. 1, doi. 10.1155/2012/982657

By:

Jastaneiah, Sabah S.

Publication type:

Article

Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis.

Published in:

ISRN Otolaryngology, 2014, p. 1, doi. 10.1155/2014/305350

By:

Calvão-Pires, Pedro;
Santos-Silva, R.;
Falcão-Reis, F.;
Rocha-Sousa, 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

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

Aniridia.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1011, doi. 10.1038/ejhg.2012.100

By:

Hingorani, Melanie;
Hanson, Isabel;
van Heyningen, Veronica

Publication type:

Article

Spectral‐domain optical coherence tomography findings in 64 patients with aniridia: a retrospective study.

Published in:: 2018
Publication type:: Abstract

PAX6 non‐coding regions variants leading to aniridia spectrum.

Published in:: 2018
Publication type:: Abstract

Aniridia‐Related Keratopathy in naïve corneas and after keratolimbal allograft.

Published in:: 2018
Publication type:: Abstract

Modeling of aniridia‐related keratopathy by CRISPR/Cas9 genome editing of human limbal epithelial cells and rescue by recombinant PAX6 protein.

Published in:: 2018
Publication type:: Abstract

Modeling of aniridia‐related keratopathy by CRISPR/Cas9 of human limbal epithelial cells and rescue by recombinant PAX6 protein.

Published in:: 2018
Publication type:: Abstract

The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 5, p. e340, doi. 10.1111/aos.12923

By:

Qiu, Xiaodi;
Ji, Yinghong;
Zheng, Tianyu;
Lu, Yi

Publication type:

Article

Customized humanoptics silicone iris prosthesis in eyes with posttraumatic iris loss: outcomes and complications.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 3, p. 301, doi. 10.1111/aos.12946

By:

Spitzer, Martin Stephan;
Nessmann, Anja;
Wagner, Julia;
Yoeruek, Efdal;
Bartz ‐ Schmidt, Karl Ulrich;
Szurman, Peter;
Szurman, Gesine B.

Publication type:

Article

Syndromic manifestations in aniridia patients with PAX6 point mutations.

Published in:

2015

By:

Calvas, P.;
Chassaing, N.;
Kaplan, J.;
Rozet, J.M.

Publication type:

Abstract

Diadenosine polyphosphates in the tears of aniridia patients.

Published in:

Acta Ophthalmologica (1755375X), 2015, v. 93, n. 5, p. e337, doi. 10.1111/aos.12626

By:

Peral, Assumpta;
Carracedo, Gonzalo;
Pintor, Jesús

Publication type:

Article

Cataract development in Norwegian patients with congenital aniridia.

Published in:

Acta Ophthalmologica (1755375X), 2014, v. 92, n. 2, p. e165, doi. 10.1111/aos.12225

By:

Edén, Ulla;
Lagali, Neil;
Dellby, Anette;
Utheim, Tor P.;
Riise, Ruth;
Chen, Xiangjun;
Fagerholm, Per

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

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

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

Helping Families Cope with the Severe Stress of Dravet Syndrome.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, p. S9, doi. 10.1017/cjn.2016.248

By:

Camfield, Peter;
Camfield, Carol;
Nolan, Kathleen

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

Congenital Aniridia with Ectopia Lentis.

Published in:

2016

By:

KUSUMESH, RAKHI;
AMBASTHA, ANITA

Publication type:

Case Study

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

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

Gonadal, Not Maternal, Acquisition of Duplicated pax6 Orthologs in Megalobrama Amblycephala.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 7, p. 1710, doi. 10.3390/ijms20071710

By:

Pan, Qihua;
Xue, Ting;
Xia, Bilin;
Luo, Junzhi;
Wang, Qian;
Jiang, Yuewen;
Yu, Miao;
Chen, Tiansheng

Publication type:

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

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

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

Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.

Published in:

2017

By:

Woo Jin Kim;
Jong Ha Kim;
Nam Chun Cho;
Kim, Woo Jin;
Kim, Jong Ha;
Cho, Nam Chun

Publication type:

journal article

Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye.

Published in:

Indian Journal of Ophthalmology, 2014, v. 62, n. 3, p. 371, doi. 10.4103/0301-4738.109515

By:

Kaliaperumal, Subashini;
Troutbeck, Robin;
Iemsomboon, Wallop;
Farinelli, Adrian

Publication type:

Article

Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia.

Published in:

Indian Journal of Ophthalmology, 2014, v. 62, n. 2, p. 246, doi. 10.4103/0301-4738.128635

By:

Kothari, Mihir;
Rao, Kavita;
Moolani, Samita

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