Works matching DE "COLOBOMA"

Results: 140

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas.

Published in:

Eye (0950-222X), 2015, v. 29, n. 4, p. 492, doi. 10.1038/eye.2014.335

By:

Smith, H B;
Verity, D H;
Collin, J R O

Publication type:

Article

Chorioretinal coloboma in a paediatric population.

Published in:

Eye (0950-222X), 2014, v. 28, n. 6, p. 728, doi. 10.1038/eye.2014.61

By:

Uhumwangho, O M;
Jalali, S

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

Diagnostic Ophthalmology.

Published in:

2015

By:

Bauer, Bianca S.;
Sandmeyer, Lynne S.;
Grahn, Bruce H.

Publication type:

Case Study

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

Published in:

2010

By:

Inoue, Hirosuke;
Takada, Hidetoshi;
Kusuda, Takeshi;
Goto, Takako;
Ochiai, Masayuki;
Kinjo, Tadamune;
Muneuchi, Jun;
Takahata, Yasushi;
Takahashi, Naomi;
Morio, Tomohiro;
Kosaki, Kenjiro;
Hara, Toshiro

Publication type:

journal article

Macular coloboma.

Published in:

2016

By:

Varghese, Mary;
Kavalakatt, Joel A.;
Pandey, Shweta;
Kolath, Jerry J.

Publication type:

Letter to the Editor

Multiple Ocular and Systemic Disorders in Association with Bilateral Duane’s Retraction Syndrome.

Published in:

Middle East African Journal of Ophthalmology, 2016, v. 23, n. 3, p. 256, doi. 10.4103/0974-9233.186119

By:

Zare, Mohammad Ali;
Akbari, Mohammad Reza;
Kiarudi, Mohammad Yaser;
Mehrjardi, Hadi Zare

Publication type:

Article

Achondroplasia and Macular Coloboma.

Published in:

2015

By:

Ahoor, M. H.;
Amizadeh, Y.;
Sorkhabi, R.

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

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

Ectopia lentis a major ocular manifestation of Marfan syndrome.

Published in:

Ocular Surgery News, 2014, v. 32, n. 17, p. 33

By:

Narang, Priya;
Agarwal, Amar

Publication type:

Article

Haptic modification needed for glued IOL fixation in microcornea.

Published in:

Ocular Surgery News, 2014, v. 32, n. 9, p. 45

By:

Ashok Kumar, Dhivya;
Agarwal, Amar

Publication type:

Article

Spotlight on the pediatric eye: a pictorial review of orbital anatomy and congenital orbital pathologies.

Published in:

Neuroradiology Journal, 2021, v. 34, n. 1, p. 21, doi. 10.1177/1971400920949232

By:

Bhat, Roopa;
Al-Samarraie, Mohannad;
Nada, Ayman;
Leiva-Salinas, Carlos;
Whitehead, Matthew;
Mahdi, Eman

Publication type:

Article

Coronal clival cleft in CHARGE syndrome.

Published in:

Neuroradiology Journal, 2017, v. 30, n. 6, p. 574, doi. 10.1177/1971400916678248

By:

Mahdi, Eman;
Whitehead, Matthew T.

Publication type:

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

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

Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature.

Published in:

Case Reports in Ophthalmology, 2015, v. 6, n. 2, p. 251, doi. 10.1159/000437381

By:

Hsu, Chia Lee;
Layton, Christopher J.

Publication type:

Article

Total Upper Eyelid Reconstruction with Modified Cutler-Beard Procedure Using Autogenous Auricular Cartilage.

Published in:

Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 8, p. 1, doi. 10.7860/JCDR/2016/20303.8239

By:

MANDAL, SALIL KUMAR;
FLEMING, JAMES CHRISTIAN;
REDDY, SHILPA GILLELLA;
FOWLER, BRIAN T.

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

Echographic evaluation of optic disc excavation.

Published in:

Egyptian Journal of Hospital Medicine, 2012, v. 49, p. 672

By:

Atwa, Fatma A.;
Farag, Mona Mohamad A.;
Mansour, Mona N.

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

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

A Novel Surgical Method of Reconstruction for Proboscis Lateralis: A Case Report and Review of the Literature.

Published in:

Cleft Palate Craniofacial Journal, 2023, v. 60, n. 1, p. 110, doi. 10.1177/10556656211053161

By:

Boynuyogun, Etkin;
Ozgur, Figen

Publication type:

Article

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 11, p. 1346, doi. 10.1177/10556656211050006

By:

Shenoy, Rathika D.;
Shetty, Vikram;
Dheedene, Annelies;
Menten, Björn;
Pandyanda Nanjappa, Dechamma;
Chakraborty, Gunimala;
Sips, Patrick;
de Paepe, Anne;
Callewaert, Bert;
Chakraborty, Anirban

Publication type:

Article

Craniofacial Cleft: A Case of Tessier 10 Cleft With a Novel Method to Repair Large Bilateral Colobomas.

Published in:

Cleft Palate Craniofacial Journal, 2019, v. 56, n. 10, p. 1377, doi. 10.1177/1055665619853737

By:

Barnett, Joshua M.;
Pang, John H. Y.;
Herman, Sean;
Lee, Jonathan;
Stefko, S. Tonya;
Losee, Joseph E.;
Goldstein, Jesse

Publication type:

Article

Cleft Lip and Palate in CHARGE Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2018, v. 55, n. 3, p. 342, doi. 10.1177/1055665617738994

By:

Isaac, Kathryn V.;
Ganske, Ingrid M.;
Rottgers, Stephen A.;
Lim, So Young;
Mulliken, John B.

Publication type:

Article

Ocular Findings in Infants with Microcephaly Caused by Presumed Congenital Infection by Zika Virus in Sergipe.

Published in:

Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/7092432

By:

Valadares, Marco;
Pedroso, Anne Carolyne Lelis Oliveira;
Santana, Alessandro;
da Silva, Angela Maria;
Costa, Isabela Soares;
Almeida, Maria Luiza Doria;
Almeida, Roque Pacheco de

Publication type:

Article

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Published in:

Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/7054315

By:

Li, Bin;
Lu, Bin;
Guo, Xuewen;
Hu, Shenghui;
Zhao, Guihu;
Huang, Weihong;
Hu, Jianzhong;
Song, Kun

Publication type:

Article

A Study on Pattern of Retinal Detachment in Patients with Choroidal Coloboma and Its Outcome after Surgery at a Tertiary Eye Hospital in Nepal.

Published in:

Journal of Ophthalmology, 2019, p. 1, doi. 10.1155/2019/7390852

By:

Suwal, Barsha;
Paudyal, Govinda;
Thapa, Raba;
Bajimaya, Sanyam;
Sharma, Sanjita;
Pradhan, Eli

Publication type:

Article

Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis.

Published in:

2017

By:

Khokhar, Sudarshan;
Takkar, Brijesh;
Pillay, Ganesh;
Venkatesh, Pradeep

Publication type:

Case Study

Prenatal Diagnosis of Colobomatous Microphthalmos.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2015, v. 52, p. e22, doi. 10.3928/01913913-20150421-12

By:

Dar, Suhail A.;
Johal, Sheila C.;
Marino, Meghan J.;
Singh, Arun D.

Publication type:

Article

Prenatal Diagnosis of Colobomatous Microphthalmos.

Published in:

2015

By:

Dar, Suhail A.;
Johal, Sheila C.;
Marino, Meghan J.;
Singh, Arun D.

Publication type:

Case Study

Plasty of Human bites induced full thickness large area eyelid defects.

Published in:

Pakistan Journal of Pharmaceutical Sciences, 2016, v. 29, p. 349

By:

Hong-yan Zhou;
Wen-song Zhang;
Hong Zhang;
Xunyi Gao;
Jie Wu

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

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

Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder.

Published in:

Indian Journal of Radiology & Imaging, 2023, v. 33, n. 2, p. 260, doi. 10.1055/s-0042-1760282

By:

Jayanthan, S. Shanmuga;
Ganesh, Rajagopal;
Karunakaran, Narayanan;
Mukuntharajan, T.;
Manodoss, A. Nancy;
Dedhia, Karan;
Nadanasadharam, K.

Publication type:

Article

Magnetic resonance imaging of optic nerve.

Published in:

Indian Journal of Radiology & Imaging, 2015, v. 25, n. 4, p. 421, doi. 10.4103/0971-3026.169462

By:

Gala, Foram

Publication type:

Article

The Canabrava Ring, an open ring-shaped pupil expander for cataract surgery associated with iris colobomata: a case report.

Published in:

Arquivos Brasileiros de Oftalmologia, 2020, v. 83, n. 5, p. 434, doi. 10.5935/0004-2749.20200086

By:

Canabrava, Sérgio;
Canêdo Domingos Lima, Ana Carolina;
Elisa Loyola, Ana

Publication type:

Article

Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report.

Published in:

2016

By:

ÖZELCE, RAMAZAN;
GüRLü, VUSLAT;
GüçLü, HANDE;
ÖZAL, SADıK ALTAN

Publication type:

Case Study

Bilateral isolated lens coloboma associated with bicuspid aortic valve.

Published in:

Arquivos Brasileiros de Oftalmologia, 2015, v. 78, n. 6, p. 376, doi. 10.5935/0004-2749.20150099

By:

DOGAN, MUSTAFA;
POLAT, ONUR;
AKCI, ONDER;
YAVAS, GULIZ FATMA;
INAN, UMIT UBEYT

Publication type:

Article

Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature.

Published in:

Child's Nervous System, 2014, v. 30, n. 3, p. 497, doi. 10.1007/s00381-013-2259-5

By:

Kasasbeh, Aimen;
Gurnett, Christina;
Smyth, Matthew

Publication type:

Article

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

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Published in:

Human Genetics, 2017, v. 136, n. 1, p. 119, doi. 10.1007/s00439-016-1745-8

By:

Holt, R.;
Ugur Iseri, S.;
Wyatt, A.;
Bax, D.;
Gold Diaz, D.;
Santos, C.;
Broadgate, S.;
Dunn, R.;
Bruty, J.;
Wallis, Y.;
McMullan, D.;
Ogilvie, C.;
Gerrelli, D.;
Zhang, Y.;
Ragge, Nicola

Publication type:

Article

Spontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma.

Published in:

Clinical & Experimental Ophthalmology, 2015, v. 43, n. 7, p. 696, doi. 10.1111/ceo.12523

By:

Wong, Evan N;
Thompson, Andrew;
Tay‐Kearney, Mei‐Ling;
Chen, Fred K

Publication type:

Article

Enhanced depth imaging optical coherence tomography of optic disc maculopathy without a visible optic pit.

Published in:

Clinical & Experimental Ophthalmology, 2013, v. 41, n. 9, p. 894, doi. 10.1111/ceo.12090

By:

Hedels, Christian;
Krohn, Jørgen

Publication type:

Article