Works matching Retinoblastoma and genetics

Results: 211

Retinoblastomda Epidemiyoloji, Genetik, Patoloji ve Klinik Özellikler.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2024, v. 8, n. 1, p. 2, doi. 10.37783/CRJ-0380

By:

ALKAN, Lütfi Raşid;
ATALAY, Hatice Tuba

Publication type:

Article

Knudson to embryo selection: A story of the genetics of retinoblastoma.

Published in:: Taiwan Journal of Ophthalmology, 2018, v. 8, n. 4, p. 196, doi. 10.4103/tjo.tjo_37_18
Publication type:: Article

Parent Knowledge of Screening and Genetic Testing in Retinoblastoma.

Published in:

Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/3839792

By:

Xiao, Wei;
Ji, Xian;
Ye, Huijing;
Zeng, Huiqi;
Gao, Yang;
Chen, Rongxin;
Chen, Xiaoyun;
Mao, Yuxiang;
Yang, Huasheng

Publication type:

Article

Clinical Presentation and Genetic Paradigm of Diffuse Infiltrating Retinoblastoma: A Review.

Published in:

Ocular Oncology & Pathology, 2016, v. 2, n. 3, p. 128, doi. 10.1159/000441528

By:

Traine, Peter G.;
Schedler, Katharina J.;
Rodrigues, Eduardo B.

Publication type:

Article

Danish retinoblastoma patients 1943–2013 – genetic testing and clinical implications.

Published in:

Acta Oncologica, 2016, v. 55, n. 4, p. 412, doi. 10.3109/0284186X.2015.1099732

By:

Gregersen, Pernille A.;
Urbak, Steen F.;
Funding, Mikkel;
Overgaard, Jens;
Jensen, Uffe B.;
Alsner, Jan

Publication type:

Article

Role of genetic testing in retinoblastoma management at a tertiary referral centre.

Published in:

Clinical & Experimental Ophthalmology, 2010, v. 38, n. 3, p. 231, doi. 10.1111/j.1442-9071.2010.02239.x

By:

Pradhan, Monika A.;
Ng, Yvonne;
Strickland, Adrienne;
George, Peter M.;
Raizis, Anthony;
Warrington, Jenny;
Vincent, Andrea L.

Publication type:

Article

New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 10, p. 909, doi. 10.1007/s10038-006-0036-y

By:

Kontic, Milica;
Palacios, Iciar;
Gámez, Ángelo;
Camino, Isabel;
Latkovic, Zoran;
Rasic, Dejan;
Krstic, Vera;
Bunjevacki, Vera;
Alonso, Javier;
Pestaña, Ángel

Publication type:

Article

Retinoblastoma genetics in India: From research to implementation.

Published in:

Indian Journal of Ophthalmology, 2015, v. 63, n. 3, p. 219, doi. 10.4103/0301-4738.156917

By:

Dimaras, Helen

Publication type:

Article

Developing Clinical Cancer Genetics Services in Resource-Limited Countries: The Case of Retinoblastoma in Kenya.

Published in:

Public Health Genomics, 2014, v. 17, n. 4, p. 221, doi. 10.1159/000363645

By:

He, Li Qun;
Njambi, Lucy;
Nyamori, Joseph M.;
Nyenze, Emmanuel M.;
Kimani, Kahaki;
Matende, Ibrahim;
Rono, Hilary;
Njom, Victor;
Bett, James;
Mukuria, Mukiri;
Gachago, Muchai;
Roberts, Helen;
Dimaras, Helen

Publication type:

Article

Genetics in ophthalmology: molecular blueprints of retinoblastoma.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00529-w

By:

Marković, Leon;
Bukovac, Anja;
Varošanec, Ana Maria;
Šlaus, Nika;
Pećina-Šlaus, Nives

Publication type:

Article

Outpatient clinic for genetic counseling and gene testing of retinoblastoma.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 1, p. 25

By:

Kokichi Sugano;
Teruhiko Yoshida;
Hideko Izumi;
Shino Umezawa;
Mineko Ushiama;
Akira Ichikawa;
Akio Hidaka;
Yoshinori Murakami;
Tetsurou Kodama;
Shigenobu Suzuki;
Akihiro Kaneko

Publication type:

Article

Retinoblastoma -- clinical and genetic aspects: a review.

Published in:

Journal of the Royal Society of Medicine, 1988, v. 81, n. 4, p. 220, doi. 10.1177/014107688808100412

By:

Cowell, J. K.;
Hungerford, J.;
Jay, M.;
Rutland, P.

Publication type:

Article

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Published in:

Molecular & Clinical Oncology, 2021, v. 15, n. 3, p. N.PAG, doi. 10.3892/mco.2021.2344

By:

Hoang, Chinh Quoc;
Duong, Hong-Quan;
Nguyen, Nguyen Thanh;
Nguyen, Sy Anh Hao;
Nguyen, Cuong;
Nguyen, Bo Duy;
Phung, Lan Tuyet;
Nguyen, Dung Thuy;
Pham, Chau Thi Minh;
Le Doan, Trang;
Tran, Mai Hoang

Publication type:

Article

Patient understanding of genetic information influences reproductive decision making in retinoblastoma.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 587, doi. 10.1111/cge.13035

By:

Foster, A.;
Boyes, L.;
Burgess, L.;
Carless, S.;
Bowyer, V.;
Jenkinson, H.;
Parulekar, M.;
Ainsworth, J.;
Hungerford, J.;
Onadim, Z.;
Sagoo, M.;
Rosser, E.;
Reddy, M.A.;
Cole, T.

Publication type:

Article

Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient.

Published in:

Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1391596

By:

Jing Chen;
Shuo Yang;
He Wang;
Hongjing Wang;
Yuanyuan Xiao;
Shanling Liu

Publication type:

Article

Author Correction: Establishment, characterization, and genetic profiling of patient-derived osteosarcoma cells from a patient with retinoblastoma.

Published in:

2024

By:

Thongkumkoon, Patcharawadee;
Sangphukieo, Apiwat;
Tongjai, Siripong;
Noisagul, Pitiporn;
Sangkhathat, Surasak;
Laochareonsuk, Wison;
Kamolphiwong, Rawikant;
Budprom, Piyaporn;
Teeyakasem, Pimpisa;
Yongpitakwattana, Petlada;
Thepbundit, Viraporn;
Sirikaew, Nutnicha;
Klangjorhor, Jeerawan;
Settakorn, Jongkolnee;
Moonmuang, Sutpirat;
Suksakit, Pathacha;
Pasena, Arnat;
Chaijaruwanich, Jeerayut;
Yathongkhum, Wilawan;
Dissook, Sivamoke

Publication type:

Correction Notice

Retinoblastoma beyond RB1: recent advances in genetic biomarkers.

Published in:

2010

By:

Pentimalli, Francesca;
Indovina, Paola;
Giordano, Antonio

Publication type:

Editorial

Genetics of retinoblastoma.

Published in:

Expert Review of Ophthalmology, 2010, v. 5, n. 4, p. 513, doi. 10.1586/eop.10.47

By:

Brichard, Bénédicte

Publication type:

Article

Genetics and management of retinoblastoma.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2007, v. 12, n. 3, p. 109, doi. 10.4103/0971-9261.34946

By:

Bakhshi, Sameer;
Bakhshi, Radhika

Publication type:

Article

Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort.

Published in:

Cancers, 2024, v. 16, n. 8, p. 1565, doi. 10.3390/cancers16081565

By:

Gerrish, Amy;
Mashayamombe-Wolfgarten, Chipo;
Stone, Edward;
Román-Montañana, Claudia;
Abbott, Joseph;
Jenkinson, Helen;
Millen, Gerard;
Gurney, Sam;
McCalla, Maureen;
Staveley, Sarah-Jane;
Kainth, Anu;
Kirk, Maria;
Bowen, Claire;
Cavanagh, Susan;
Bunstone, Sancha;
Carney, Megan;
Mohite, Ajay;
Clokie, Samuel;
Reddy, M. Ashwin;
Foster, Alison

Publication type:

Article

Molecular Genetics of RB1 - - The Retinoblastoma Gene.

Published in:

Seminars in Ophthalmology, 2007, v. 22, n. 4, p. 247, doi. 10.1080/08820530701745165

By:

Leiderman, Yannek I.;
Kiss, Szilárd;
Mukai, Shizuo

Publication type:

Article

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Published in:

Ophthalmic Genetics, 2024, v. 45, n. 3, p. 235, doi. 10.1080/13816810.2023.2270570

By:

Price, Elizabeth A.;
Sagoo, Mandeep S.;
Reddy, M. Ashwin;
Onadim, Zerrin

Publication type:

Article

Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.

Published in:

2022

By:

Manukonda, Radhika;
Pujar, Akhilesh;
Ramappa, George;
Vemuganti, Geeta K;
Kaliki, Swathi

Publication type:

Report

Lack of correlation between age at diagnosis and <italic>RB1</italic> mutations for unilateral retinoblastoma: the importance of genetic testing.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 3, p. 407, doi. 10.1080/13816810.2017.1420807

By:

Berry, Jesse L.;
Lewis, Laura;
Zolfaghari, Emily;
Green, Sarah;
Le, Bao han A.;
Lee, Thomas C.;
Murphree, A. Linn;
Kim, Jonathan W.;
Jubran, Rima

Publication type:

Article

Knowledge of genetics in familial retinoblastoma.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 3, p. 226, doi. 10.1080/13816810.2016.1195846

By:

Soliman, Sameh E.;
ElManhaly, Mostafa;
Dimaras, Helen

Publication type:

Article

Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India.

Published in:

Ophthalmic Genetics, 2016, v. 37, n. 4, p. 430, doi. 10.3109/13816810.2015.1107595

By:

Shah, Parag K.;
Sripriya, S.;
Narendran, V.;
Pandian, A. J.

Publication type:

Article

Retinoblastoma and the Genetic Theory of Cancer: An Old Paradigm Trying to Survive to the Evidence.

Published in:

Journal of Cancer Epidemiology, 2009, p. 1, doi. 10.1155/2009/301973

By:

Mastrangelo, Domenico;
Hadjistilianou, Theodora;
de Francesco, Sonia;
Loré, Cosimo

Publication type:

Article

Retinoblastoma--clinical and genetic aspects: a review.

Published in:

1988

By:

Cowell, J K;
Hungerford, J;
Jay, M;
Rutland, P

Publication type:

journal article

Dissecting functions of the retinoblastoma tumor suppressor and the related pocket proteins by integrating genetic, cell biology, and electrophoretic techniques.

Published in:

Electrophoresis, 1999, v. 20, n. 2, p. 372, doi. 10.1002/(SICI)1522-2683(19990201)20:2<372::AID-ELPS372>3.0.CO;2-R

By:

Hansen, Klaus;
Lukas, Jiri;
Holm, Karin;
Kjerulff, Anne Arnt;
Bartek, Jiri

Publication type:

Article

Genesis and Genetics of Retinoblastoma.

Published in:

Ophthalmologica, 1975, v. 170, n. 5, p. 405, doi. 10.1159/000307248

By:

François, J.;
Matton, M.Th.;
De Bie, S.;
Tanaka, Y.;
Vandenbulcke, D.

Publication type:

Article

Genetic and epigenetic alterations of RB2/p130 tumor suppressor gene in human sporadic retinoblastoma: implications for pathogenesis and therapeutic approach.

Published in:

Oncogene, 2005, v. 24, n. 38, p. 5827, doi. 10.1038/sj.onc.1208630

By:

Tosi, Gian Marco;
Trimarchi, Carmela;
Macaluso, Marcella;
La Sala, Dario;
Ciccodicola, Alfredo;
Lazzi, Stefano;
Massaro-Giordano, Mina;
Caporossi, Aldo;
Giordano, Antonio;
Cinti, Caterina

Publication type:

Article

Retinoblastoma - genetic insights into neoplasia.

Published in:

BioEssays, 1987, v. 6, n. 1, p. 5, doi. 10.1002/bies.950060103

By:

Nyhan, William L.

Publication type:

Article

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Published in:

Risk Management & Healthcare Policy, 2021, v. 14, p. 3453, doi. 10.2147/RMHP.S322373

By:

Xie, Ying;
Xu, Xiao-Lin;
Wei, Wen-Bin

Publication type:

Article

Untangling the genetic secrets of retinoblastoma.

Published in:

Ophthalmology Times Europe, 2024, v. 20, n. 6, p. 28

By:

Charters, Lynda;
Marković, Leon

Publication type:

Article

First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers.

Published in:

Molecular Human Reproduction, 2003, v. 9, n. 2, p. 111, doi. 10.1093/molehr/gag014

By:

Girardet, A.;
Hamamah, S.;
Anahory, T.;
Déchaud, H.;
Sarda, P.;
Hédon, B.;
Demaille, J.;
Claustres, M.

Publication type:

Article

The Genetics of Unilateral Retinoblastoma Clarified.

Published in:

2021

By:

Wagner, Rudolph S.

Publication type:

Editorial

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178776

By:

Tomar, Swati;
Sethi, Raman;
Sundar, Gangadhara;
Quah, Thuan Chong;
Quah, Boon Long;
Lai, Poh San

Publication type:

Article

Association of genetic variants in the retinoblastoma binding protein 6 gene with the risk of glioma: a case-control study in a Chinese Han population.

Published in:

Journal of Neurosurgery, 2014, v. 121, n. 5, p. 1209, doi. 10.3171/2014.6.JNS132240

By:

DEZHI HU;
SHUO ZHANG;
YINGJIE ZHAO;
SHIMING WANG;
QIHAN WANG;
XIAO SONG;
DARU LU;
YING MAO;
HONGYAN CHEN

Publication type:

Article

Clinical and genetic associations for carboplatin-related ototoxicity in children treated for retinoblastoma: A retrospective noncomparative single-institute experience.

Published in:

2018

By:

Soliman, Sameh E.;
D'Silva, Crystal N.;
Dimaras, Helen;
Dzneladze, Irakli;
Chan, Helen;
Gallie, Brenda L.;
D'Silva, Crystal N

Publication type:

journal article

Epidemiology, Diagnosis and Genetics of Retinoblastoma: ICMR Consensus Guidelines.

Published in:

Indian Journal of Pediatrics, 2024, v. 91, n. 11, p. 1147, doi. 10.1007/s12098-024-05085-2

By:

Singh, Lata;
Chinnaswamy, Girish;
Meel, Rachna;
Radhakrishnan, Venkatraman;
Madan, Renu;
Kulkarni, Suyash;
Sasi, Archana;
Kaur, Tanvir;
Dhaliwal, R. S.;
Bakhshi, Sameer

Publication type:

Article

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189736

By:

Parma, Diana;
Ferrer, Marcela;
Luce, Leonela;
Giliberto, Florencia;
Szijan, Irene

Publication type:

Article

Genetic perspective of retinoblastoma: From present to future.

Published in:

2016

By:

Jagadeesan, Madhavan;
Khetan, Vikas;
Mallipatna, Ashwin

Publication type:

journal article

Prenatal genetic diagnosis of retinoblastoma--clinical correlates on follow-up.

Published in:

2015

By:

Neriyanuri, Srividya;
Raman, Rajiv;
Rishi, Pukhraj;
Govindasamy, Kumaramanickavel;
V. L., Ramprasad;
Sharma, Tarun;
Ramprasad, V L

Publication type:

journal article

Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression.

Published in:

Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 1, p. 103, doi. 10.1007/s00428-023-03697-1

By:

Bradová, Martina;
Thompson, Lester D. R.;
Hyrcza, Martin;
Vaněček, Tomáš;
Grossman, Petr;
Michal Jr., Michael;
Hájková, Veronika;
Taheri, Touraj;
Rupp, Niels;
Suster, David;
Lakhani, Sunil;
Nikolov, Dimitar Hadži;
Žalud, Radim;
Skálová, Alena;
Michal, Michal;
Agaimy, Abbas

Publication type:

Article

Epidemiological and genetic considerations in retinoblastoma.

Published in:

Community Eye Health Journal, 2018, v. 30, n. 101, p. 29

By:

Fabian, Ido Didi;
Rosser, Elisabeth;
Sagoo, Mandeep S.

Publication type:

Article

Understanding retinoblastoma: epidemiology and genetics.

Published in:

Community Eye Health Journal, 2018, v. 30, n. 101, p. 7

By:

Fabian, Ido Didi;
Sagoo, Mandeep S.

Publication type:

Article

Genetic screening in patients with Retinoblastoma in Israel.

Published in:

Familial Cancer, 2015, v. 14, n. 3, p. 471, doi. 10.1007/s10689-015-9794-z

By:

Sagi, Michal;
Frenkel, Avishag;
Eilat, Avital;
Weinberg, Naomi;
Frenkel, Shahar;
Pe'er, Jacob;
Abeliovich, Dvorah;
Lerer, Israela

Publication type:

Article

Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?

Published in:

2011

By:

Serrano, C.;
Alonso, J.;
Gómez-Mariano, G.;
Aguirre, E.;
Diez, O.;
Gadea, N.;
Bosch, N.;
Balmaña, J.;
Graña, B.

Publication type:

Letter

Establishment, characterization, and genetic profiling of patient-derived osteosarcoma cells from a patient with retinoblastoma.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-60628-z

By:

Thongkumkoon, Patcharawadee;
Sangphukieo, Apiwat;
Tongjai, Siripong;
Noisagul, Pitiporn;
Sangkhathat, Surasak;
Laochareonsuk, Wison;
Kamolphiwong, Rawikant;
Budprom, Piyaporn;
Teeyakasem, Pimpisa;
Yongpitakwattana, Petlada;
Thepbundit, Viraporn;
Sirikaew, Nutnicha;
Klangjorhor, Jeerawan;
Settakorn, Jongkolnee;
Moonmuang, Sutpirat;
Suksakit, Pathacha;
Pasena, Arnat;
Chaijaruwanich, Jeerayut;
Yathongkhum, Wilawan;
Dissook, Sivamoke

Publication type:

Article

DNA hypermethylation/boundary control loss identified in retinoblastomas associated with genetic and epigenetic inactivation of the RB1 gene promoter.

Published in:

Epigenetics, 2021, v. 16, n. 9, p. 940, doi. 10.1080/15592294.2020.1834911

By:

Raizis, AM;
Racher, HM;
Foucal, A;
Dimaras, H;
Gallie, BL;
George, PM

Publication type:

Article