Works matching DE "COLOBOMA"

Results: 140

Raf Kinase Inhibitory Protein Down-Expression Exacerbates Hepatic Fibrosis In Vivo and In Vitro.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2016, v. 40, n. 1/2, p. 49, doi. 10.1159/000452524

By:

Huang, Quanfang;
Liang, Chunhong;
Wei, Ling;
Nie, Jinlan;
Lu, Shengjuan;
Lu, Chunyuan;
Zhuo, Lang;
Lu, Zhongpeng;
Lin, Xing

Publication type:

Article

Common congenital ocular conditions.

Published in:

UK-Vet Companion Animal, 2015, v. 20, n. 9, p. 494, doi. 10.12968/coan.2015.20.9.494

By:

Mathieson, Iona

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

Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits.

Published in:

PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0211073

By:

Turner, Katherine J.;
Hoyle, Jacqueline;
Valdivia, Leonardo E.;
Cerveny, Kara L.;
Hart, Wendy;
Mangoli, Maryam;
Geisler, Robert;
Rees, Michele;
Houart, Corinne;
Poole, Richard J.;
Wilson, Stephen W.;
Gestri, Gaia

Publication type:

Article

Vascular manifestations and post-treatment changes of epidermal nevus syndrome.

Published in:

QJM: An International Journal of Medicine, 2015, v. 108, n. 2, p. 135, doi. 10.1093/qjmed/hcu089

By:

Juan, Y.-H.;
Nagpal, P.;
Saboo, S.S.;
Lin, Y.-C.;
Khandelwal, A.

Publication type:

Article

2q31.1 microdeletion syndrome: case report and literature review.

Published in:

Clinical Case Reports, 2015, v. 3, n. 6, p. 357, doi. 10.1002/ccr3.260

By:

Puvabanditsin, Surasak;
February, Melissa;
Shaik, Tazeem;
Kashyap, Arun;
Bruno, Chantal;
Mehta, Rajeev

Publication type:

Article

Congenital Upper Eyelid Coloboma: Clinical and Surgical Management.

Published in:

Case Reports in Ophthalmological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/286782

By:

Ortega Molina, José María;
Mora Horna, Eduardo Ramón;
Salgado Miranda, Andrés David;
Rubio, Rosa;
Solans Pérez de Larraya, Ana;
Salcedo Casillas, Guillermo

Publication type:

Article

Choroidal Coloboma in a Case of Tay-Sachs Disease.

Published in:

2014

By:

Ahmed, Nasreen Raees;
Tripathy, Koushik;
Kumar, Vivek;
Gogia, Varun

Publication type:

Case Study

Genetics Corner: Coloboma and Microphthalmia in a Newborn with a 16p13.11 Microduplication.

Published in:

2024

By:

Fowler, Alexandra;
Shin, Jennifer;
Clark, Robin D.

Publication type:

Case Study

Spontaneous scleral rupture associated with retinochoroidal coloboma.

Published in:

Revista Brasileira de Oftalmologia, 2020, v. 79, n. 3, p. 207, doi. 10.5935/0034-7280.20200044

By:

Ribeiro, Jefferson A. S.;
Conrado, Deborah;
Carvalho, Ricardo;
Ribeiro, Daniel S.

Publication type:

Article

Frequency and ethiological frequency of congenital cataract associated with microphthalmia and postoperative visual results.

Published in:

Revista Brasileira de Oftalmologia, 2017, v. 76, n. 2, p. 81, doi. 10.5935/0034-7280.20170016

By:

Kitadai, Silvia Prado Smit;
Nishi, Mauro

Publication type:

Article

Clinical anophthalmia and coloboma associated with systemic malformations: etiology and ophthalmologist-patient relationship.

Published in:

2015

By:

Ventura, Pedro;
Bortoli Debarba, Rafael;
Zago, Bruna;
Corso, Diego Davi;
Bonamigo, Elcio Luiz

Publication type:

Case Study

Kabuki Syndrome: a case report with severe ocular abnormalities.

Published in:

2013

By:

Cord Medina, Flavio Mac;
Rodriguez, Pamela;
de Souza Cabral, Renata Tavares;
de Castro, Marcia Brazuna;
Llerena Junior, Juan Clinton;
Miguel Japiassú, Ricardo

Publication type:

Case Study

Surgical management of bilateral cataracts in a patient with congenital iris coloboma.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2021, v. 123, n. 1, p. 39, doi. 10.5114/ko.2021.104751

By:

Omulecki, Wojciech;
Kucharczyk-Pośpiech, Magdalena

Publication type:

Article

Congenital Arhinia: A Rare Case Report and Review of Literature.

Published in:

2016

By:

Mondal, Uttam;
Prasad, Rameshwar

Publication type:

Report

Choanal Atresia: Surgical Management by Hegar's Dilators.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2014, v. 66, n. 3, p. 272, doi. 10.1007/s12070-013-0688-9

By:

Sinha, Vikas;
Gurnani, Deepanshu;
Modi, Niral;
Barot, Dilavar;
Maniyar, Hiten;
Pandey, Ambuj

Publication type:

Article

Teratogenic effect of hydroxyethylrutoside, a flavonoid derivate drug - a population-based case-control study.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2014, v. 27, n. 11, p. 1093, doi. 10.3109/14767058.2013.850485

By:

Pósfai, Éva;
Bánhidy, Ferenc;
Czeizel, Andrew E.

Publication type:

Article

Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2014, v. 252, n. 11, p. 1853, doi. 10.1007/s00417-014-2680-9

By:

Lee, Kyoung;
Woo, Se;
Hwang, Jeong-Min

Publication type:

Article

Molecular Basis for the Development of Coloboma: A Review.

Published in:

Indian Practitioner, 2023, v. 76, n. 5, p. 16

By:

Pandey, Sanjay Kumar

Publication type:

Article

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.

Published in:

Journal of Perinatology, 2015, v. 35, n. 2, p. 155, doi. 10.1038/jp.2014.187

By:

Geddes, G C;
Dimmock, D P;
Hehir, D A;
Helbling, D C;
Kirkpatrick, E;
Loomba, R;
Southern, J;
Waknitz, M;
Scharer, G;
Konduri, G G

Publication type:

Article

The Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone‐Based Fundus Imaging.

Published in:

Journal of Ophthalmology, 2024, v. 2024, p. 1, doi. 10.1155/joph/4065885

By:

Acar, Damla Erginturk;
Ozgur, Armagan;
Yesilirmak, Nilufer

Publication type:

Article

Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations.

Published in:

Journal of Ophthalmology, 2024, p. 1, doi. 10.1155/2024/5993083

By:

Guarnera, Alessia;
Valente, Paola;
Pasquini, Luca;
Moltoni, Giulia;
Randisi, Francesco;
Carducci, Chiara;
Carboni, Alessia;
Lucignani, Giulia;
Napolitano, Antonio;
Romanzo, Antonino;
Longo, Daniela;
Gandolfo, Carlo;
Rossi-Espagnet, Maria Camilla

Publication type:

Article

Severe congenital ocular coloboma.

Published in:

2014

By:

Younes, Samar;
Tahri, Hicham

Publication type:

Case Study

Transient, idiopathic nystagmus in infants.

Published in:

2003

By:

Good, William V;
Hou, Chuan;
Carden, Susan M

Publication type:

journal article

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01882-3

By:

Russo, Monica;
Palmeri, Serena;
Zucconi, Alice;
Vagge, Aldo;
Arioni, Cesare

Publication type:

Article

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01882-3

By:

Russo, Monica;
Palmeri, Serena;
Zucconi, Alice;
Vagge, Aldo;
Arioni, Cesare

Publication type:

Article

Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma.

Published in:

2006

By:

Pal, Nikhil;
Azad, Raj Vardhan;
Sharma, Yog Raj

Publication type:

journal article

Positive Behavior Supports for a Young Adult with CHARGE Syndrome.

Published in:

Journal of Visual Impairment & Blindness, 2017, v. 111, n. 2, p. 175, doi. 10.1177/0145482X1711100210

By:

Nannemann, Allison C.;
Bruce, Susan M.;
Covelli, Andrea

Publication type:

Article

Coloboma of the optic disc: a case report.

Published in:

2019

By:

Konovalova, N. V.;
Khramenko, N. I.;
Slobodyanyk, S. B.;
Guzun, O. V.

Publication type:

Case Study

CHARGE syndrome and common variable immunodeficiency: A case report and review of literature.

Published in:

Pediatric Allergy & Immunology, 2016, v. 27, n. 5, p. 546, doi. 10.1111/pai.12574

By:

Martire, Baldassarre;
Panza, Raffaella;
Pillon, Marta;
Delvecchio, Maurizio

Publication type:

Article

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 8, p. 2351, doi. 10.1007/s00467-024-06347-z

By:

Shimabukuro, Wataru;
Chinen, Yasutsugu;
Imanaga, Naoya;
Yanagi, Kumiko;
Kaname, Tadashi;
Nakanishi, Koichi

Publication type:

Article

Ocular manifestations of renal ciliopathies.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 5, p. 1327, doi. 10.1007/s00467-023-06096-5

By:

Salehi, Omar;
Mack, Heather;
Colville, Deb;
Lewis, Debbie;
Savige, Judy

Publication type:

Article

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).

Published in:

Pediatric Nephrology, 2024, v. 39, n. 2, p. 357, doi. 10.1007/s00467-023-06068-9

By:

Virth, James;
Mack, Heather G.;
Colville, Deb;
Crockett, Emma;
Savige, Judy

Publication type:

Article

Evaluations of Corneas in Eyes with Isolated Iris Coloboma.

Published in:

Current Eye Research, 2017, v. 42, n. 1, p. 41, doi. 10.3109/02713683.2016.1151054

By:

Karatepe Haşhaş, Arzu Seyhan;
Arifoğlu, Hasan Basri;
Yüce, Yudum;
Duru, Necati;
Ulusoy, Döndü Melek;
Zararsız, Gökmen

Publication type:

Article

Systemic Abnormalities in Children with Congenital Optic Disc Excavations.

Published in:

Current Eye Research, 2015, v. 40, n. 4, p. 450, doi. 10.3109/02713683.2014.925931

By:

Beby, Francis

Publication type:

Article

Eyelid Coloboma in a Newborn with VACTERL Association.

Published in:

2017

By:

M., Timilsina;
E., Gauchan;
D. P., Koirala

Publication type:

Case Study

Treacher Collins Syndrome.

Published in:

2013

By:

Kapoor, K.;
Batra, P.;
Saha, A.

Publication type:

Case Study

An eye on microphthalmia.

Published in:

Pigment Cell & Melanoma Research, 2017, v. 30, n. 3, p. 280, doi. 10.1111/pcmr.12575

By:

Fock, Valerie;
Steingrímsson, Eiríkur

Publication type:

Article

Multiple Types of Coloboma in an Otherwise Healthy Patient: A Case Report.

Published in:

2018

By:

Alghamdi, Ayman A.;
Alsubaie, Musab A.;
Khogeer, Ahmed N.;
Malak, Mohammed

Publication type:

Case Study

Multiple Types of Coloboma in an Otherwise Healthy Patient: A Case Report.

Published in:

2018

By:

Alghamdi, Ayman A.;
Alsubaie, Musab A.;
Khogeer, Ahmed N.;
Mohammed Malak

Publication type:

Case Study

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

Published in:

2018

By:

Zhang, Li;
Zhai, Shu-bo;
Zhao, Leng-yue;
Zhang, Yan;
Sun, Bai-chao;
Ma, Qing-shan

Publication type:

journal article

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Published in:

PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007246

By:

Hocking, Jennifer C.;
Famulski, Jakub K.;
Yoon, Kevin H.;
Widen, Sonya A.;
Bernstein, Cassidy S.;
Koch, Sophie;
Weiss, Omri;
null, null;
Agarwala, Seema;
Inbal, Adi;
Lehmann, Ordan J.;
Waskiewicz, Andrew J.

Publication type:

Article

Lunar lenses – Acquired lens colobomas.

Published in:

Journal of Postgraduate Medicine, 2023, v. 69, n. 1, p. 41, doi. 10.4103/jpgm.jpgm_1145_21

By:

Choudhary, S;
Katoch, D;
Pandav, S;
Kaushik, S

Publication type:

Article

Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma.

Published in:

Beyoglu Eye Journal, 2020, v. 5, n. 3, p. 228, doi. 10.14744/bej.2020.72621

By:

Akkaya, Serkan

Publication type:

Article

Manitoba Oculo-tricho-anal Syndrome: Complex Surgical Correction of an Extensive Upper Lid Coloboma with Congenital Symblepharon.

Published in:

Vision Pan-America, 2017, v. 16, n. 3, p. 94

By:

Kazaryan, Suzie A.;
Valenzuela, Alejandra A.

Publication type:

Article

Intraocular lens implantation for patients with coloboma of the iris.

Published in:

Experimental & Therapeutic Medicine, 2014, v. 7, n. 6, p. 1595, doi. 10.3892/etm.2014.1615

By:

JUANJUAN LI;
YAN LI;
ZHULIN HU;
LEI KONG

Publication type:

Article

Identification of candidate PAX2-regulated genes implicated in human kidney development.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88743-1

By:

Yamamura, Yuta;
Furuichi, Kengo;
Murakawa, Yasuhiro;
Hirabayashi, Shigeki;
Yoshihara, Masahito;
Sako, Keisuke;
Kitajima, Shinji;
Toyama, Tadashi;
Iwata, Yasunori;
Sakai, Norihiko;
Hosomichi, Kazuyoshi;
Murphy, Philip M.;
Tajima, Atsushi;
Okita, Keisuke;
Osafune, Kenji;
Kaneko, Shuichi;
Wada, Takashi

Publication type:

Article

Cecr2 mutant mice as a model for human cat eye syndrome.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82556-y

By:

Dicipulo, Renée;
Norton, Kacie A.;
Fairbridge, Nicholas A.;
Kibalnyk, Yana;
Fox, Sabrina C.;
Hornberger, Lisa K.;
McDermid, Heather E.

Publication type:

Article

Isolated Upper Eyelid Coloboma.

Published in:

Turkish Journal of Plastic Surgery, 2017, v. 25, n. 2, p. 111, doi. 10.5152/TurkJPlastSurg.2017.2120

By:

Eyüboğlu, Atilla Adnan;
Çöloğlu, Harun;
Uysal, Çağrı Ahmet;
Albayati, Abbas;
Ertaş, Nilgün Markal

Publication type:

Article

Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs.

Published in:

Animal Genetics, 2016, v. 47, n. 2, p. 250, doi. 10.1111/age.12405

By:

Fredholm, M.;
Larsen, R. C.;
Jönsson, M.;
Söderlund, M. A.;
Hardon, T.;
Proschowsky, H. F.

Publication type:

Article