Works matching DE "COLOBOMA"

Results: 140

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

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

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

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

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

Coloboma of the Optic Disc and Retina.

Published in:

2017

By:

Aronowitz, Paul;
Judge, Jody;
Aronowitz, Paul B;
Judge, Jody K

Publication type:

journal article

Transient, idiopathic nystagmus in infants.

Published in:

2003

By:

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

Publication type:

journal 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

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

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

Macular coloboma.

Published in:

2016

By:

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

Publication type:

Letter to the Editor

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

Eyelid Coloboma in a Newborn with VACTERL Association.

Published in:

2017

By:

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

Publication type:

Case Study

<i>aldh7a1</i> Regulates Eye and Limb Development in Zebrafish.

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101782

By:

Babcock, Holly E.;
Dutta, Sunit;
Alur, Ramakrishna P.;
Brocker, Chad;
Vasiliou, Vasilis;
Vitale, Susan;
Abu-Asab, Mones;
Brooks, Brian P.

Publication type:

Article

A Large Novel Deletion Downstream of<i>PAX6</i> Gene in a Chinese Family with Ocular Coloboma.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083073

By:

Guo, Hong;
Dai, Limeng;
Huang, Yanming;
Liao, Qiong;
Bai, Yun

Publication type:

Article

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

Management of repeated trauma to bone-anchored hearing aids in a paediatric patient.

Published in:

2013

By:

Shamil, E;
Topsakal, V;
Grolman, W

Publication type:

Case Study

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

PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome.

Published in:

Kidney & Dialysis, 2023, v. 3, n. 3, p. 255, doi. 10.3390/kidneydial3030023

By:

Digvijay, Kumar;
Virzi, Grazia Maria;
Pomarè Montin, Diego;
da Luz, Lucas Gobetti;
Taramsari, Maryam Momeni;
Gupta, Ashwani;
Malik, Manish;
Gupta, Anurag;
Bhargava, Vinant;
Verma, Meenakshi;
Ronco, Claudio;
Rana, Devinder Singh;
Bhalla, Anil Kumar

Publication type:

Article

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

Diagnostic Ophthalmology.

Published in:

2015

By:

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

Publication type:

Case Study

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

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

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

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Published in:

2018

By:

Bruel, A.‐l.;
Thevenon, J.;
Huet, F.;
Jean‐marcais, N.;
Odent, S.;
Dubourg, C.;
Lehalle, D.;
Tran Mau‐them, F.;
Philippe, C.;
Moutton, S.;
Houcinat, N.;
Gay, S.;
Guibaud, L.;
Duffourd, Y.;
Rivière, J.‐b.;
Faivre, L.;
Thauvin‐robinet, C.

Publication type:

Case Study

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 350, doi. 10.1111/cge.12965

By:

Santos‐Simarro, F.;
Vallespin, E.;
Pozo, A.;
Ibañez, K.;
Silla, J.C.;
Fernandez, L.;
Nevado, J.;
González‐Pecellín, H.;
Montaño, V.E.F.;
Martin, R.;
Alba Valdivia, L.I.;
García‐Miñaúr, S.;
Lapunzina, P.;
Palomares‐Bralo, M.

Publication type:

Article

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 276, doi. 10.1111/cge.12277

By:

Roos, L.;
Fang, M.;
Dali, C.;
Jensen, H.;
Christoffersen, N.;
Wu, B.;
Zhang, J.;
Xu, R.;
Harris, P.;
Xu, X.;
Grønskov, K.;
Tümer, Z.

Publication type:

Article

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

Baraitser-Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum.

Published in:

2016

By:

Shawky, Rabah M.;
Gamal, Radwa;
Mohammad, Shaimaa Abdelsattar

Publication type:

Case Study

Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser--Winter syndrome.

Published in:

2014

By:

Shawky, Rabah M.;
Elabd, Heba Salah Abd-Elkhalek;
Gamal, Radwa

Publication type:

Case Study

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

Ocular coloboma combined with cleft lip and palate: a case report.

Published in:

2020

By:

Yoo, Yung Ju;
Han, Sang Beom;
Yang, Hee Kyung;
Hwang, Jeong-Min

Publication type:

journal 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 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

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

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

Outcomes of Eye Examination and Vision Screening in Term Infants Presenting to a Tertiary Hospital in Türkiye.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2025, v. 55, n. 2, p. 1, doi. 10.4274/tjo.galenos.2025.07572

By:

Kaymak, Nilüfer Zorlutuna;
Kaplan, Ayşin Tuba;
Yalçın, Sibel Öskan;
Gün, Raziye Dönmez;
Yaprak, Dilber Çelik;
Tanyıldız, Burak

Publication type:

Article

İki Taraflı Ektopik Pupil ve Tek Taraflı Lens Kolobomlu Olguda Geç Tanınan Retina Dekolmanı.

Published in:

2014

By:

Mayalı, Hüseyin;
İlker, Süleyman Sami;
Kılıç, şaban;
Kurt, Emin;
Ulusoy, Oğuz

Publication type:

Case Study

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

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

Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma.

Published in:

2014

By:

Kosuke Abe;
Jumi Shirane;
Masuo Sakamoto;
Fumi Tanabe;
Kazuki Kuniyoshi;
Chota Matsumoto;
Yoshikazu Shimomura

Publication type:

Case Study