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Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia
Názov Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia Autor Plášilová Martina Spoluautori Feráková E. Poláková Helena SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Spoluautori Gerinec A. Ott J. Ferak V. Zdroj.dok. Human Heredity. Vol. 48, iss. 1 (1998), p. 30-33 Jazyk dok. eng - angličtina Krajina GB - Veľká Británia Druh dok. rozpis článkov z periodík (rbx) Ohlasy PUHO, Erzsebet H. - VOGT, Gabor - CSAKY-SZUNYOGH, Melinda - METNEKI, Julia - CZEIZEL, Andrew E. Maternal demographic and socioeconomic characteristics of live-born infants with isolated ocular congenital abnormalities. In OPHTHALMIC EPIDEMIOLOGY. ISSN 0928-6586, 2008, vol. 15, no. 4, pp. 257-263. SHERWIN, Justin C. - HEWITT, Alex W. - RUDDLE, Jonathan B. - MACKEY, David A. Genetic Isolates in Ophthalmic Diseases. In OPHTHALMIC GENETICS. ISSN 1381-6810, 2008, vol. 29, no. 4, pp. 149-161. VAJARANANT, T. S. - AL-SHAHWAN, S. - BEJJANI, B. A. - EDWARD, D. P. A comprehensive update on congenital glaucoma. CURRENT PEDIATRIC REVIEWS. ISSN 1573-3963, 2008, vol. 4, issue 1, p. 19-30. CHOUDHARY, D. - JANSSON, I. - SCHENKMAN, J. B. CYP1B1, a developmental gene with a potential role in glaucoma therapy. In XENOBIOTICA. ISSN 0049-8254, 2009, vol. 39, no. 8, pp. 606-615. GEYER, Orna - WOLF, Alvit - LEVINGER, Elia - HARARI-SHACHAM, Amalia - WALTON, David S. - SHOCHAT, Chen - KOREM, Sigal - BERCOVICH, Dani. Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients From Different Ethnic Groups of the Israeli Population. In AMERICAN JOURNAL OF OPHTHALMOLOGY. ISSN 0002-9394, 2011, vol. 151, no. 2, pp. 263-271. KAUR, K. - MANDAL, A.K. - CHAKRABARTI, S. Primary congenital glaucoma and the involvement of CYP1B1. In Middle East African Journal of Ophthalmology, 2011, vol.18, no.1, 7-16. THUMANN, Gabriele. Prospectives for Gene Therapy of Retinal Degenerations. In CURRENT GENOMICS. ISSN 1389-2029, 2012, vol. 13, no. 5, pp. 350-362. LIM, Sing-Hui - KHANH-NHAT TRAN-VIET - YANOVITCH, Tammy L. - FREEDMAN, Sharon F. - KLEMM, Thomas - CALL, Whitney - POWELL, Caldwell - RAVICHANDRAN, Ajay - METLAPALLY, Ravikanth - NADING, Erica B. - ROZEN, Steve - YOUNG, Terri L. CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States. In AMERICAN JOURNAL OF OPHTHALMOLOGY. ISSN 0002-9394, 2013, vol. 155, no. 3, pp. 508-517. MENDIZABAL, Isabel - LAO, Oscar - MARIGORTA, Urko M. - KAYSER, Manfred - COMAS, David. Implications of Population History of European Romani on Genetic Susceptibility to Disease. In HUMAN HEREDITY. ISSN 0001-5652, 2013, vol. 76, no. 3-4, pp. 194-200. LIU, Yutao - ALLINGHAM, R. Rand. Glaucoma. In GENOMIC AND PERSONALIZED MEDICINE, VOL 1-2, 2ND EDITION, 2013, vol., no., pp. 1082-1094. FAIQ, Muneeb Ahmad - SHARMA, Reetika K. - DADA, Rima - MOHANTY, Kuldeep - SALUJA, Daman - DADA, Tanuj. Genetic, biochemical and clinical insights into primary congenital glaucoma. In Journal of Current Glaucoma Practice. ISSN 09740333, 2013-01-01, 7, 2, pp. 66-84. FAIQ, Muneeb A. - DADA, Rima - SHARMA, Reetika - SALUJA, Daman - DADA, Tanuj. CYP1B1: A Unique Gene with Unique Characteristics. In CURRENT DRUG METABOLISM. ISSN 1389-2002, 2014, vol. 15, no. 9, pp. 893-914. FAIQ, Muneeb A. - DADA, Rima - QADRI, Rizwana - DADA, Tanuj. CYP1B1-mediated pathobiology of primary congenital glaucoma. In Journal of Current Glaucoma Practice. ISSN 09740333, 2015-09-01, 9, 3, pp. 77-80. DO, Tan - SHEI, William - PHAM THI MINH CHAU - DOAN LE TRANG - YONG, Victor H. K. - NG, Xiao Yu - CHEN, Yue Ming - AUNG, Tin - VITHANA, Eranga N. CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients. In JOURNAL OF GLAUCOMA. ISSN 1057-0829, 2016, vol. 25, no. 5, pp. E491-E498. LOPEZ, Juan P. Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma. In WILLS EYE HANDBOOK OF OCULAR GENETICS, 2018, vol., no., pp. 72-80. HADRAMI, Mouna - BONNET, Crystel - ZEITZ, Christina - VETEN, Fatimetou - BIYA, Med - HAMED, Cheikh T. - CONDROYER, Christel - WANG, Panfeng - SIDI, Med Mahmoud - CHEIKH, Sidi - ZHANG, Qingjiong - AUDO, Isabelle - PETIT, Christine - HOUMEIDA, Ahmed. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma. In MOLECULAR VISION. ISSN 1090-0535, 2019, vol. 25, no., pp. 373-381. BOUHENNI, Rachida A. - RICKER, Isabel - HERTLE, Richard W. Prevalence and Clinical Characteristics of Childhood Glaucoma at a Tertiary Care Children's Hospital. In JOURNAL OF GLAUCOMA. ISSN 1057-0829, 2019, vol. 28, no. 7, pp. 655-659. AFZAL, Rabia - FIRASAT, Sabika - KAUL, Haiba - AHMED, Bashir - SIDDIQUI, Sorath N. - ZAFAR, Saemah N. - SHAHZADI, Misbah - AFSHAN, Kiran. Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3 ' splice acceptor site of intron 2. In CONGENITAL ANOMALIES. ISSN 0914-3505, 2019, vol. 59, no. 5, pp. 152-161. MONDAL, Tanmoy - LOFFREDO, Christopher A. - TRNOVEC, Tomas - MURINOVA, Lubica Palkovicova - NOREEN, Zarish - NNANABU, Thomas - CONKA, Kamil - DROBNA, Beata - GHOSH, Somiranjan. Gene expression signatures in PCB-exposed Slovak children in relation to their environmental exposures and socio-physical characteristics. In ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH, 2022, vol. 29, no. 40, pp. 60531-60541. ISSN 0944-1344. Dostupné na: https://doi.org/10.1007/s11356-022-20018-2. DUVESH, Roopam - KRISHNADAS, Subbiah Ramasamy - SUNDARESAN, Periasamy. Genetics of Congenital Glaucoma. In Genetics of Ocular Diseases, 2022-01-01, pp. 41-70. Dostupné na: https://doi.org/10.1007/978-981-16-4247-0_6. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 1998 
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Počet záznamov: 1