Works matching DE "MICROPHTHALMIA"

Results: 269

Prevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis.

Published in:

Systematic Reviews, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s13643-022-01889-5

By:

Ally, Naseer;
Ismail, Sarah;
Alli, Hassan Dawood

Publication type:

Article

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.

Published in:

Ophthalmic Epidemiology, 2021, v. 28, n. 5, p. 428, doi. 10.1080/09286586.2020.1862244

By:

Schraw, Jeremy M.;
Benjamin, Renata H.;
Scott, Daryl A.;
Brooks, Brian P.;
Hufnagel, Robert B.;
McLean, Scott D.;
Northrup, Hope;
Langlois, Peter H.;
Canfield, Mark A.;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Ray, Joseph W.;
Chen, Han;
Swartz, Michael D.;
Mitchell, Laura E.;
Agopian, A.J.;
Lupo, Philip J.

Publication type:

Article

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.

Published in:

Ophthalmic Epidemiology, 2016, v. 23, n. 5, p. 324, doi. 10.1080/09286586.2016.1213859

By:

Roos, Laura;
Jensen, Hanne;
Grønskov, Karen;
Holst, René;
Tümer, Zeynep

Publication type:

Article

Linear skin defects and microphthalmia.

Published in:

2018

By:

Durack, A.;
Mehta, S. G.;
Allen, L. E.;
Ozanic Bulic, S.;
Burrows, N. P.

Publication type:

Case Study

Microphthalmia with linear skin defects (MLS) syndrome: familial presentation.

Published in:

2018

By:

Kumar, P.;
Rajab, A.

Publication type:

Case Study

Frontoethmoidal meningoencephalocele with multiple congenital craniofacial and skeletal malformations in a stillborn puppy.

Published in:

Thai Journal of Veterinary Medicine, 2017, v. 47, n. 4, p. 563

By:

Promporn Raksaseri;
Wuthichai Klomkleaw

Publication type:

Article

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Published in:

Genes, 2025, v. 16, n. 2, p. 176, doi. 10.3390/genes16020176

By:

Chiriatti, Luigi;
Priolo, Manuela;
Onesimo, Roberta;
Carvetta, Mattia;
Leoni, Chiara;
Bruselles, Alessandro;
Radio, Francesca Clementina;
Cappelletti, Camilla;
Ferilli, Marco;
Ricci, Daniela;
Niceta, Marcello;
Cordeddu, Viviana;
Ciolfi, Andrea;
Mancini, Cecilia;
Zampino, Giuseppe;
Tartaglia, Marco

Publication type:

Article

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.

Published in:

Genes, 2023, v. 14, n. 8, p. 1573, doi. 10.3390/genes14081573

By:

Basharat, Rabia;
Rodenburg, Kim;
Rodríguez-Hidalgo, María;
Jarral, Afeefa;
Ullah, Ehsan;
Corominas, Jordi;
Gilissen, Christian;
Zehra, Syeda Tatheer;
Hameed, Usman;
Ansar, Muhammad;
de Bruijn, Suzanne E.

Publication type:

Article

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Published in:

Genes, 2023, v. 14, n. 3, p. 726, doi. 10.3390/genes14030726

By:

Parekh, Bela;
Beil, Adelyn;
Blevins, Bridget;
Jacobson, Adam;
Williams, Pamela;
Innis, Jeffrey W.;
Barone Pritchard, Amanda;
Prasov, Lev

Publication type:

Article

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Published in:

Genes, 2021, v. 12, n. 7, p. 1069, doi. 10.3390/genes12071069

By:

Zin, Olivia A.;
Neves, Luiza M.;
Motta, Fabiana L.;
Horovitz, Dafne D. G.;
Guida, Leticia;
Gomes, Leonardo H. F.;
Cunha, Daniela P.;
Rodrigues, Ana Paula S.;
Zin, Andrea A.;
Sallum, Juliana M. F.;
Vasconcelos, Zilton F. M.

Publication type:

Article

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Published in:

Genes, 2021, v. 12, n. 1, p. 65, doi. 10.3390/genes12010065

By:

Haug, Patricia;
Koller, Samuel;
Maggi, Jordi;
Lang, Elena;
Feil, Silke;
Wlodarczyk, Agnès;
Bähr, Luzy;
Steindl, Katharina;
Rohrbach, Marianne;
Gerth-Kahlert, Christina;
Berger, Wolfgang

Publication type:

Article

Morphometry of eyes, antennae and wings in three species of Siagona (Coleoptera, Carabidae).

Published in:

ZooKeys, 2011, v. 100, p. 203, doi. 10.3897/zookeys.100.1528

By:

Talarico, Federica;
Brandmayr, Pietro;
Giglio, Anita;
Massolo, Alessandro;
Brandmayr, Tullia Zetto

Publication type:

Article

Indications for pediatric ocular prosthesis fitting at a referral center in the Middle East.

Published in:

Middle East African Journal of Ophthalmology, 2019, v. 26, n. 2, p. 107, doi. 10.4103/meajo.MEAJO_274_18

By:

Al-Dahan, Danya;
Khan, Arif

Publication type:

Article

Delleman Oorthuys Syndrome.

Published in:

2015

By:

Rizvi, Syed Wajahat A.;
Siddiqui, Mohammed Azfar;
Khan, Adeeb A.;
Siddiqui, Ziya

Publication type:

Case Study

Detailed Ophthalmologic Evaluation of Posterior Microphthalmos.

Published in:

2014

By:

Zeynep Alkin;
Abdullah Ozkaya;
Yalcin Karakucuk;
Ahmet Demirok

Publication type:

Case Study

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0351-3

By:

Capkova, Pavlina;
Santava, Alena;
Markova, Ivana;
Stefekova, Andrea;
Srovnal, Josef;
Staffova, Katerina;
Durdová, Veronika

Publication type:

Article

Retinal Wnt signaling defect in a zebrafish fetal alcohol spectrum disorder model.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201659

By:

Muralidharan, Pooja;
Sarmah, Swapnalee;
Marrs, James A.

Publication type:

Article

SOX5 is involved in balanced MITF regulation in human melanoma cells.

Published in:

BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0170-0

By:

Kordaß, Theresa;
Weber, Claudia E. M.;
Oswald, Marcus;
Ast, Volker;
Bernhardt, Mathias;
Novak, Daniel;
Utikal, Jochen;
Eichmüller, Stefan B.;
König, Rainer

Publication type:

Article

Surgical Management of Ocular Dermoid Cyst - A Clinical Study in Eight Calves.

Published in:

Intas Polivet, 2016, v. 17, n. 2, p. 473

By:

Dar, Shahid Hussain;
Fazili, Mujeeb Ur Rehman;
Dar, Khadim Hussain;
Nissar, Shazia;
Mir, Abdul Qayoom

Publication type:

Article

Healthcare, school and daily life experiences of patients with microphthalmia or anophthalmia and their parents.

Published in:

Acta Paediatrica, 2025, v. 114, n. 3, p. 619, doi. 10.1111/apa.17484

By:

Chireh, Evin;
Nordquist, Jonas;
Grönlund, Marita Andersson;
Fahnehjelm, Kristina Teär

Publication type:

Article

Association of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population.

Published in:

2018

By:

Wang, Shaolin;
Zhuang, Wenjuan;
Ma, Jianqing;
Xu, Manyun;
Piao, Shunyu;
Hao, Juan;
Zhang, Wen;
Chi, Hao;
Xue, Zhongqi;
Ha, Shaoping

Publication type:

journal article

The treatment of malignant glaucoma in nanophthalmos: a case report.

Published in:

2018

By:

Jie Wang;
Ergang Du;
Jinfei Tang;
Wang, Jie;
Du, Ergang;
Tang, Jinfei

Publication type:

journal article

Orbital Cyst with Ependymal Differentiation Associated with Microphthalmia.

Published in:

2022

By:

Garcia, Maria D.;
Salomao, Diva R.;
Wagner, Lilly H.

Publication type:

Case Study

Unilateral optic nerve aplasia associated with microphthalmos.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2012, v. 69, n. 3, p. 286, doi. 10.2298/VSP1203286S

By:

Stanković-Babić, Gordana;
Oros, Ana;
Cekić, Sonja;
Vujanović, Milena;
Babić, Rade R.

Publication type:

Article

Rag GTPases mediate amino acid-dependent recruitment of TFEB and MITF to lysosomes.

Published in:

Journal of Cell Biology, 2013, v. 200, n. 4, p. 475, doi. 10.1083/jcb.201209135

By:

Martina, Jose A.;
Puertollano, Rosa

Publication type:

Article

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

Published in:

2022

By:

Gholami Yarahmadi, Sepideh;
Sarlaki, Fatemeh;
Morovvati, Saeid

Publication type:

Case Study

Microphthalmia-associated transcription factor regulates skin melanoblast migration by repressing the melanoma cell adhesion molecule.

Published in:

Experimental Dermatology, 2016, v. 25, n. 1, p. 74, doi. 10.1111/exd.12835

By:

Rao, Chunbao;
Su, Zhongyuan;
Li, Huirong;
Ma, Xiaoyin;
Zheng, Xiaozi;
Liu, Yin;
Lu, Fan;
Qu, Jia;
Hou, Ling

Publication type:

Article

Demographics and histopathological characteristics of enucleated microphthalmic globes.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09261-2

By:

Alkatan, Hind M.;
Bedaiwi, Khalid M.;
Al-Faky, Yasser H.;
Maktabi, Azza M. Y.

Publication type:

Article

Nasal Reconstruction in a Rare Case of Unilateral Arhinia in Bosma Arhinia Microphthalmia Syndrome.

Published in:

Turkish Journal of Plastic Surgery, 2024, v. 32, n. 1, p. 38, doi. 10.4103/tjps.tjps_53_23

By:

Agrawal, Kapil S.;
Khosa, Armaan;
Mehta, Vidhi;
Puri, Vinita

Publication type:

Article

An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.

Published in:

2018

By:

Weber, Kari A.;
Yang, Wei;
Carmichael, Suzan L.;
Lupo, Philip J.;
Dukhovny, Stephanie;
Yazdy, Mahsa M.;
Lin, Angela E.;
Van Bennekom, Carla M.;
Mitchell, Allen A.;
Shaw, Gary M.;
National Birth Defects Prevention Study

Publication type:

journal article

Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital.

Published in:

Orbit, 2019, v. 38, n. 3, p. 192, doi. 10.1080/01676830.2018.1521843

By:

Galindo-Ferreiro, Alicia;
Elkhamary, Sahar M;
Alhammad, Fatimah;
AlGhafri, Laila;
AlWehaib, Manar;
Alessa, Dalal;
Aldossari, Saif;
Akaishi, Patricia;
Khadekar, Rajiv;
AlShaikh, Osama;
Schellini, Silvana Artioli

Publication type:

Article

1-Benzyl-indole-3-carbinol is a highly potent new small molecule inhibitor of Wnt/β-catenin signaling in melanoma cells that coordinately inhibits cell proliferation and disrupts expression of microphthalmia-associated transcription factor isoform-M.

Published in:

Carcinogenesis, 2017, v. 38, n. 12, p. 1207, doi. 10.1093/carcin/bgx103

By:

Kundu, Aishwarya;
Khouri, Michelle G.;
Aryana, Sheila;
Firestone, Gary L.

Publication type:

Article

Femtosecond LASER-Assisted Double Intraocular Lens Exchange in Nanophthalmic Eyes.

Published in:

2024

By:

Levinger, Nadav;
Erdinest, Nir;
London, Naomi;
Levinger, Eliya;
Goldfeather Ben Zaken, Shalhevet;
Barequet, Dana;
Barequet, Irit;
Achiron, Asaf;
Levinger, Shmuel

Publication type:

Case Study

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.

Published in:

2022

By:

O'Connell, Ann;
Zhu, Julia;
Stephenson, Kirk A.J.;
Whelan, Laura;
Dockery, Adrian;
Turner, Jacqueline;
O'Byrne, James J.;
Farrar, G. Jane;
Keegan, David

Publication type:

Case Study

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant.

Published in:

2022

By:

Javidi, Eileen;
Javidi, Simon;
Campeau, Philippe M.;
Ospina, Luis H.

Publication type:

Case Study

Scleral Fixated Intraocular Lens in Aphakic Patient with Bilateral Microcornea and Microphthalmia.

Published in:

International Medical Case Reports Journal, 2021, v. 14, p. 365, doi. 10.2147/IMCRJ.S316328

By:

Alwohaibi, Nada N;
Aljindan, Mohanna Y;
AlRashidi, Fatimah N

Publication type:

Article

Microphthalmos, orbital cyst, and missing thumbs: A rare case report.

Published in:

Oman Journal of Ophthalmology, 2015, v. 8, n. 3, p. 194, doi. 10.4103/0974-620X.169901

By:

Afghani, Tayyab;
Mansoor, Hassan;
Shehzad, Waseem

Publication type:

Article

Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination.

Published in:

Oman Journal of Ophthalmology, 2013, v. 6, n. 2, p. 134, doi. 10.4103/0974-620X.116664

By:

Agrawal, Pallavi;
Patel, Chaitali;
Abidi, Naheed;
Ramchandani, Suresh;
Vadhel, Leena;
Loomba, Abhinav

Publication type:

Article

microRNA-155, Induced by Interleukin-1ß, Represses the Expression of Microphthalmia-Associated Transcription Factor (MITF-M) in Melanoma Cells.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122517

By:

Arts, Nathalie;
Cané, Stefania;
Hennequart, Marc;
Lamy, Juliette;
Bommer, Guido;
Van den Eynde, Benoît;
De Plaen, Etienne

Publication type:

Article

Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0111432

By:

Wada, Kenta;
Matsushima, Yoshibumi;
Tada, Tomoki;
Hasegawa, Sayaka;
Obara, Yo;
Yoshizawa, Yasuhiro;
Takahashi, Gou;
Hiai, Hiroshi;
Shimanuki, Midori;
Suzuki, Sari;
Saitou, Junichi;
Yamamoto, Naoki;
Ichikawa, Masumi;
Watanabe, Kei;
Kikkawa, Yoshiaki

Publication type:

Article

Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110299

By:

Soundararajan, Ramani;
Won, Jungyeon;
Stearns, Timothy M.;
Charette, Jeremy R.;
Hicks, Wanda L.;
Collin, Gayle B.;
Naggert, Jürgen K.;
Krebs, Mark P.;
Nishina, Patsy M.

Publication type:

Article

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058830

By:

Beck, Tyler F.;
Shchelochkov, Oleg A.;
Yu, Zhiyin;
Kim, Bum Jun;
Hernández-García, Andrés;
Zaveri, Hitisha P.;
Bishop, Colin;
Overbeek, Paul A.;
Stockton, David W.;
Justice, Monica J.;
Scott, Daryl A.

Publication type:

Article

Quantitative Genetic Analysis of Retinal Degeneration in the Blind Cavefish Astyanax mexicanus.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057281

By:

O'Quin, Kelly E.;
Yoshizawa, Masato;
Doshi, Pooja;
Jeffery, William R.

Publication type:

Article

Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052894

By:

Chun-hong Xia;
Bo Chang;
DeRosa, Adam M.;
Catherine Cheng;
White, Thomas W.;
Xiaohua Gong

Publication type:

Article

Inhibition of Melanogenesis by the Pyridinyl Imidazole Class of Compounds: Possible Involvement of the Wnt/β-Catenin Signaling Pathway.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033021

By:

Bellei, Barbara;
Pitisci, Angela;
Izzo, Enzo;
Picardo, Mauro

Publication type:

Article

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021379

By:

Patil, Suresh B.;
Hurd, Toby W.;
Ghosh, Amiya K.;
Murga-Zamalloa, Carlos A.;
Khanna, Hemant

Publication type:

Article

MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021122

By:

Sorokina, Elena A.;
Muheisen, Sanaa;
Mlodik, Nevin;
Semina, Elena V.

Publication type:

Article

Large-Scale Analysis of Acute Ethanol Exposure in Zebrafish Development: A Critical Time Window and Resilience.

Published in:

PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020037

By:

Ali, Shaukat;
Champagne, Danielle L.;
Alia, Alia;
Richardson, Michael K.

Publication type:

Article

First isolation and genetic characterization of a Toxoplasma gondii strain from a symptomatic human case of congenital toxoplasmosis in Romania.

Published in:

2013

By:

Costache, Carmen Anca;
Colosi, Horatiu Alexandru;
Blaga, Ligia;
Gyôrke, Adriana;
Pastiu, Anamaria Ioana;
Colosi, Ioana Alina;
Ajzenberg, Daniel

Publication type:

Case Study

Surgical removal of the lens with vitrectomy in patients with nanophthalmos and glaucoma.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2021, v. 123, n. 3, p. 145, doi. 10.5114/ko.2021.110006

By:

Kamińska, Anna;
Sołtysiuk, Magdalena;
Romaniak, Agnieszka;
Szaflik, Jacek

Publication type:

Article