Works matching DE "AXENFELD-Rieger syndrome"

Results: 51

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1527, doi. 10.1038/ejhg.2009.93

By:

Tümer, Zeynep;
Bach-Holm, Daniella

Publication type:

Article

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Published in:

Nature Genetics, 2009, v. 41, n. 9, p. 1037, doi. 10.1038/ng.422

By:

Aldinger, Kimberly A.;
Lehmann, Ordan J.;
Hudgins, Louanne;
Chizhikov, Victor V.;
Bassuk, Alexander G.;
Ades, Lesley C.;
Krantz, Ian D.;
Dobyns, William B.;
Millen, Kathleen J.

Publication type:

Article

Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.

Published in:

Turkish Journal of Pediatrics, 2007, v. 49, n. 4, p. 444

By:

Gurbuz-Koz, Ozlem;
Atalay, Tuba;
Koz, Cem;
Ruhi, Hatice Ilgin;
Yarangumeli, Alper;
Kural, Gulcan

Publication type:

Article

OLOGEN implant in the management of glaucoma in an unusual case of Axenfeld-Rieger Syndrome.

Published in:

2014

By:

Radhakrishnan, O. K.;
Pahuja, Kishore;
Patel, Khevna;
Chandna, Sunaina

Publication type:

Case Study

Clinical course during 40-year follow-up of Axenfeld-Rieger syndrome in a Japanese family.

Published in:

2010

By:

Yoshida, Shigeo;
Miyazaki, Aki;
Ishikawa, Keijiro;
Ikeda, Yasuhiro;
Fujisawa, Kimihiko;
Ishibashi, Tatsuro

Publication type:

Case Study

Expression of the transcription factors Otlx2, Barx1 and Sox9 during mouse odontogenesis.

Published in:

European Journal of Oral Sciences, 1998, v. 106, p. 112, doi. 10.1111/j.1600-0722.1998.tb02161.x

By:

Mitsiadis, Thimios A.;
Mucchielli, Marie-Laurence;
Raffo, Sylva;
Proust, Jean-Pierre;
Koopman, Peter;
Goridis, Christo

Publication type:

Article

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124409

By:

Zhao, Cui-Mei;
Peng, Lu-Ying;
Li, Li;
Liu, Xing-Yuan;
Wang, Juan;
Zhang, Xian-Ling;
Yuan, Fang;
Li, Ruo-Gu;
Qiu, Xing-Biao;
Yang, Yi-Qing

Publication type:

Article

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030896

By:

Yi Liu;
Semina, Elena V.

Publication type:

Article

Axenfeld–Rieger Syndrome (ARS): A review and case report.

Published in:

Special Care in Dentistry, 2010, v. 30, n. 5, p. 218, doi. 10.1111/j.1754-4505.2010.00153.x

By:

Waldron, Jennie M.;
McNamara, Clare;
Hewson, Antonia R.;
McNamara, C. M.

Publication type:

Article

A rare clinical presentation of Axenfeld-Rieger syndrome: case report.

Published in:

2014

By:

Peker, İlkay;
Biçer, Arzu Zeynep Yıldırım;
Bozkaya, Erdal;
Alkurt, Meryem Toraman;
Sadık, Elif;
Kayaoğlu, Güven

Publication type:

Case Study

Rieger's Anomaly and Other Ocular Abnormalities in Association with Osteogenesis Imperfecta and a COL1A1 Mutation.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 3, p. 135, doi. 10.1080/13816810500228993

By:

Nwosu, Benjamin U.;
Raygada, Margarita;
Tsilou, Ekaterini T.;
Rennert, Owen M.;
Stratakis, Constantine A.

Publication type:

Article

The Tale of a Belly Button: Rieger Syndrome.

Published in:

Clinical Pediatrics, 2006, v. 45, n. 5, p. 453, doi. 10.1177/0009922806289623

By:

Khashu, Minesh;
Osiovich, Horaclo;
Rudman, Delena;
Lopez, Elena;
Langlois, Sylvie

Publication type:

Article

Axenfeld‐Rieger syndrome.

Published in:

2018

By:

Seifi, M.;
Walter, M. A.

Publication type:

Letter to the Editor

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 5, p. 469, doi. 10.1111/cge.12414

By:

Aldeeri, A.A.;
Alazami, A.M.;
Hijazi, H.;
Alzahrani, F.;
Alkuraya, F.S.

Publication type:

Article

PIK3R1 mutations in SHORT syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 292, doi. 10.1111/cge.12263

By:

Schroeder, C.;
Riess, A.;
Bonin, M.;
Bauer, P.;
Riess, O.;
Döbler‐Neumann, M.;
Wieser, S.;
Moog, U.;
Tzschach, A.

Publication type:

Article

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.

Published in:

Clinical Genetics, 2007, v. 72, n. 5, p. 464, doi. 10.1111/j.1399-0004.2007.00879.x

By:

Engenheiro, E.;
Saraiva, J.;
Carreira, I.;
Ramos, L.;
Ropers, H. H.;
Silva, E.;
Tommerup, N.;
Tümer, Z.

Publication type:

Article

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.

Published in:

2010

By:

Dressler, Simone;
Meyer-Marcotty, Philipp;
Weisschuh, Nicole;
Jablonski-Momeni, Anahita;
Pieper, Klaus;
Gramer, Gwendolyn;
Gramer, Eugen

Publication type:

Case Study

Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Published in:

2010

By:

Tanwar, Mukesh;
Dada, Tanuj;
Dada, Rima

Publication type:

Case Study

Macular Edema in Branch Retinal Vein Occlusion: Treat or Wait?

Published in:

Eye Care Review, 2008, v. 2, n. 5, p. 34

By:

Pizzimenti, Joseph J.;
Pelino, Carlo J.

Publication type:

Article

Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome.

Published in:

2012

By:

Baduni, Neha;
Pandey, Maitree;
Sanwal, Manoj Kumar;
Verma, Meenakshi

Publication type:

Letter

Pediatric glaucoma suspects.

Published in:

Clinical Ophthalmology, 2014, v. 8, p. 1139, doi. 10.2147/OPTH.S61682

By:

Kooner, Karanjit;
Harrison, Matthew;
Prasla, Zohra;
Albdour, Mohannad;
Adams-Huet, Beverley

Publication type:

Article

Magnetic resonance imaging findings in Axenfeld-Rieger syndrome.

Published in:

Clinical Ophthalmology, 2013, v. 7, p. 911, doi. 10.2147/OPTH.S42933

By:

Whitehead, Matthew T.;
Choudhri, Asim F.;
Salim, Sarwat

Publication type:

Article

Morphology of the sella turcica in Axenfeld–Rieger syndrome with PITX2 mutation.

Published in:

Journal of Oral Pathology & Medicine, 2008, v. 37, n. 8, p. 504, doi. 10.1111/j.1600-0714.2008.00650.x

By:

Meyer‐Marcotty, P.;
Weisschuh, N.;
Dressler, P.;
Hartmann, J.;
Stellzig‐Eisenhauer, A.

Publication type:

Article

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1224, doi. 10.1038/ejhg.2012.80

By:

Reis, Linda M;
Tyler, Rebecca C;
Volkmann Kloss, Bethany A;
Schilter, Kala F;
Levin, Alex V;
Lowry, R Brian;
Zwijnenburg, Petra J G;
Stroh, Eliza;
Broeckel, Ulrich;
Murray, Jeffrey C;
Semina, Elena V

Publication type:

Article

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.163

By:

Weisschuh, Nicole;
De Baere, Elfride;
Wissinger, Bernd;
Tümer, Zeynep

Publication type:

Article

Novel Identification of a Four-base-pair Deletion Mutation in PITX2 in a Rieger Syndrome Family.

Published in:

Journal of Dental Research, 2003, v. 82, n. 12, p. 1008, doi. 10.1177/154405910308201214

By:

Wang, Y.;
Zhao, H.;
Zhang, X.;
Feng, H.

Publication type:

Article

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Published in:

Cytogenetic & Genome Research, 2017, v. 151, n. 1, p. 5, doi. 10.1159/000456695

By:

Maldžienė, Živilė;
Preikšaitienė, Eglė;
Ignotienė, Salomėja;
Kapitanova, Natalija;
Utkus, algirdas;
Kučinskas, Vaidutis

Publication type:

Article

Axenfeld-Rieger Syndrome: Dentofacial Manifestation and Oral Rehabilitation Considerations.

Published in:

2011

By:

Berenstein-Alzman, Gisela;
Hazan-Molina, Hagai;
Drori, Dov;
Aizenbud, Dror

Publication type:

Case Study

Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.

Published in:

2018

By:

Rao, Aparna;
Padhy, Debananda;
Sarangi, Sarada;
Das, Gopinath

Publication type:

journal article

Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.

Published in:

Indian Pediatrics, 2011, v. 48, n. 9, p. 727

By:

KAPOOR, SEEMA;
MUKHERJEE, SHARMILA BANERJEE;
SHROFF, DARAIUS;
ARORA, RITU

Publication type:

Article

Axenfeld-Rieger Syndrome and a Post-Trabeculectomy Presentation of Angle Closure.

Published in:

2015

By:

Kane, Steven;
Griffeth, Will;
Blake, Charles

Publication type:

Case Study

What's Your Diagnosis?

Published in:: Journal of Pediatric Ophthalmology & Strabismus, 2007, v. 44, n. 6, p. 333, doi. 10.3928/01913913-20071101-11
Publication type:: Article

Familial Ectopia Lentis With Axenfeld--Rieger Anomaly.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2007, v. 44, n. 1, p. 59, doi. 10.3928/01913913-20070101-13

By:

Singh, Deependra Vikram;
Sharma, Yog Raj;
Azad, Raj Vardhan;
Pal, Nikhil;
Gadagina, Shailesh

Publication type:

Article

Surgical Repair of a Blocked Pupil in Rieger's Anomaly.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2003, v. 40, n. 1, p. 33, doi. 10.3928/0191-3913-20030101-10

By:

Bourla, Nirit;
Spierer, Abraham

Publication type:

Article

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0160016

By:

Micheal, Shazia;
Siddiqui, Sorath Noorani;
Zafar, Saemah Nuzhat;
Villanueva-Mendoza, Cristina;
Cortés-González, Vianney;
Khan, Muhammad Imran;
den Hollander, Anneke I.

Publication type:

Article

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

Published in:

Indian Journal of Ophthalmology, 2014, v. 62, n. 3, p. 358, doi. 10.4103/0301-4738.121144

By:

Shah, Bhavin M.;
Dada, Tanuj;
Panda, Anita;
Tanwar, Mukesh;
Bhartiya, Shibal;
Dada, Rima

Publication type:

Article

Unusual presentation in Axenfeld-Rieger syndrome.

Published in:

2011

By:

Parikh, Rajul S.;
Parikh, Shefali R.;
B. Debashish;
Harsha, B. L.;
Thomas, Ravi

Publication type:

Case Study

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Published in:

Current Eye Research, 2018, v. 43, n. 11, p. 1334, doi. 10.1080/02713683.2018.1493129

By:

Wang, Xun;
Liu, Xing;
Huang, Liqin;
Fang, Shaohua;
Jia, Xiaoyun;
Xiao, Xueshan;
Li, Shiqiang;
Guo, Xiangming

Publication type:

Article

Axenfeld-Rieger syndrome in monozygotic twin brothers: Case report.

Published in:

Northern Clinics of Istanbul, 2022, v. 9, n. 4, p. 411, doi. 10.14744/nci.2021.89577

By:

Sezgi̇n Akcay, Betul Ilkay;
Kardes, Esra;
Li̇mon, Utku

Publication type:

Article

Congenital hypothyroidism in Axenfeld-Rieger syndrome.

Published in:

Eastern Journal of Medicine, 2017, v. 22, n. 4, p. 208, doi. 10.5505/ejm.2017.07269

By:

Çağlar, Çağatay;
Batur, Muhammed;
Seven, Erbil;
Tekin, Serek;
Yaşar, Tekin

Publication type:

Article

THE ROLE OF PITX2 IN ANTERIOR SEGMENT DYSGENESIS IN MOUNTAIN HORSE BREEDS.

Published in:

Ohio Journal of Science, 2008, v. 108, n. 1, p. A-27

By:

Shannon, Heather E.;
Lawrance, Simon

Publication type:

Article

Axenfeld-Rieger syndrome: a case report.

Published in:

Journal of Orthodontics, 2015, v. 42, n. 4, p. 324, doi. 10.1179/1465313315Y.0000000017

By:

Dunbar, A. Craig;
McIntyre, Grant T.;
Laverick, Sean;
Stevenson, Brian

Publication type:

Article

Axenfeld-Rieger Syndrome in a Pakistani Family.

Published in:

2020

By:

Rebecca;
Junejo, Murtaza Sameen;
Jamil, Syed;
Junejo, Sameen Afzal

Publication type:

Case Study

Axenfeld-Rieger Syndrome in a Pakistani Family.

Published in:

2020

By:

Rebecca;
Junejo, Murtaza Sameen;
Jamil, Syed;
Junejo, Sameen Afzal

Publication type:

Case Study

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).

Published in:

2018

By:

Jong Eun Park;
Eun Jung Lee;
Chang-Seok Ki;
Changwon Kee

Publication type:

Letter to the Editor

New horizons in congenital glaucoma surgery.

Published in:

2018

By:

Grehn, Franz

Publication type:

Editorial

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 7, p. e571, doi. 10.1111/aos.13030

By:

Seifi, Morteza;
Footz, Tim;
Taylor, Sherry A. M.;
Elhady, Ghada M.;
Abdalla, Ebtesam M.;
Walter, Michael A.

Publication type:

Article

Occurrence and pattern of ocular disease in children with cholestatic disorders.

Published in:

Acta Ophthalmologica (1755375X), 2011, v. 89, n. 2, p. 143, doi. 10.1111/j.1755-3768.2009.01671.x

By:

Fahnehjelm, Kristina Teär;
Fischler, Björn;
Martin, Lene;
Nemeth, Antal

Publication type:

Article

Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203.

Published in:

2009

By:

Riise, Ruth;
D'haene, Barbara;
De Baere, Elfride;
Grønskov, Karen;
Brøndum-Nielsen, Karen

Publication type:

Letter

Girl has bilaterally increased IOP, abnormal pupils.

Published in:

Ocular Surgery News, 2010, v. 28, n. 14, p. 26

By:

Swanic, Matthew;
Mattox, Cynthia

Publication type:

Article