المؤلفون: Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Usher syndrome type 1F (USH1F), PCDH15, Protocadherin-15, Loss of function, Nonsense-mediated decay, Syndromic retinitis pigmentosa, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/ff5882bf3ebc461ab4ab7b40476c4912

المؤلفون: Bonnet, C, Riahi, Z, Chantot-Bastaraud, S, Smagghe, L, Letexier, M, Marcaillou, C, Lefevre, GM, Hardelin, J-P, El-Amraoui, A, Singh-Estivalet, A, Mohand-Said, S, Kohl, S, Kurtenbach, A, Sliesoraityte, I, Zobor, D, Gherbi, S, Testa, F, Simonelli, F, Banfi, S, Fakin, A, Glavac, D, Jarc-Vidmar, M, Zupan, A, Battelino, S, Martorell Sampol, L, Antonia Claveria, M, Catala Mora, J, Dad, S, Moller, LB, Rodriguez Jorge, J, Hawlina, M, Auricchio, A, Sahel, J-A, Marlin, S, Zrenner, E, Audo, I, Petit, C

المصدر: European Journal of Human Genetics , 24 (12) pp. 1730-1738. (2016)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, Syndrome Type-I, Time Quantitative PCR, Syndrome Type 1F, USH2A Mutations, Gene, Pathogenesis, Populations, Frequency, Spectrum, Deafness

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10054237/1/ejhg201699.pdf; https://discovery.ucl.ac.uk/id/eprint/10054237/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10054237/1/ejhg201699.pdf
https://discovery.ucl.ac.uk/id/eprint/10054237/

المؤلفون: Vozzi D., Aaspollu A., Athanasakis E., Berto A., Fabretto A., Licastro D., Kulm M., Testa F., Vahter M., Ziviello C., Simonelli F., Banfi S., Gasparini P., TREVISI, PATRIZIA, MARTINI, ALESSANDRO

المساهمون: Vozzi, D., Aaspollu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Kulm, M., Testa, F., Trevisi, Patrizia, Vahter, M., Ziviello, C., Martini, Alessandro, Simonelli, F., Banfi, S., Gasparini, P.

مصطلحات موضوعية: Usher Syndrome, Apex-based genotyping approach, molecular assessment, SYNDROME-TYPE-II, SYNDROME TYPE 1F, GENOTYPING MICROARRAY, GENETIC-HETEROGENEITY, CAUSE DEAFNESS

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21738395; info:eu-repo/semantics/altIdentifier/wos/WOS:000292055100001; volume:17; issue:184-185; firstpage:1662; lastpage:1668; numberofpages:6; journal:MOLECULAR VISION; http://hdl.handle.net/11577/2525829; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960011547

الاتاحة: http://hdl.handle.net/11577/2525829

المؤلفون: Cremers, Frans PM, Kimberling, William J, Külm, Maigi, de Brouwer, Arjan P, van Wijk, Erwin, te Brinke, Heleen, Cremers, Cor WRJ, Hoefsloot, Lies H, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Johannes C, Berger, Wolfgang, Kelley, Phil M, Haralambous, Elene, Bitner-Glindzicz, Maria, Webster, Andrew R, Saihan, Zubin, De Baere, Elfride, Leroy, Bart, Silvestri, Giuliana, McKay, Gareth J, Koenekoop, Robert K, Millan, Jose M, Rosenberg, Thomas, Joensuu, Tarja, Sankila, Eeva-Marja, Weil, Dominique, Weston, Mike D, Wissinger, Bernd, Kremer, Hannie

المصدر: JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593

مصطلحات موضوعية: Medicine and Health Sciences, ARRAYED PRIMER EXTENSION, SYNDROME-TYPE-II, LEBER CONGENITAL AMAUROSIS, MYOSIN VIIA GENE, RECESSIVE RETINITIS-PIGMENTOSA, EAR SENSORY CELLS, SYNDROME TYPE 1F, MUTATION DETECTION, HEARING-LOSS, USH2A GENE

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/369918; http://hdl.handle.net/1854/LU-369918; http://dx.doi.org/10.1136/jmg.2006.044784; https://biblio.ugent.be/publication/369918/file/6796456

الاتاحة: https://biblio.ugent.be/publication/369918
http://hdl.handle.net/1854/LU-369918
https://doi.org/10.1136/jmg.2006.044784
https://biblio.ugent.be/publication/369918/file/6796456

المؤلفون: Andrew R. Webster, Robert K. Koenekoop, Zubin Saihan, P.M. Kelley, Elfride De Baere, Arjan P.M. de Brouwer, Maigi Külm, Elene Haralambous, Eeva-Marja Sankila, Erwin van Wijk, Johannes Fleischhauer, Sandro Banfi, Michael D. Weston, William J. Kimberling, Dominique Weil, Gareth J. McKay, Bart P. Leroy, José M. Millán, Lies H. Hoefsloot, Francesca Simonelli, Cor W. R. J. Cremers, Tarja Joensuu, Thomas Rosenberg, Giuliana Silvestri, Heleen te Brinke, Bernd Wissinger, Maria Bitner-Glindzicz, Hannie Kremer, Wolfgang Berger, Frans P.M. Cremers

المساهمون: Cremers, Fp, Kimberling, Wj, Kulm, M, DE BROUWER, A, VAN WIJK, E, TE BRINKE, H, Cremers, Cw, Hoefsloot, Lh, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Jc, Berger, W, Kelley, Pm, Haralambous, E, BITNER GLINDZICZ, M, Webster, Ar, Saihan, Z, DE BAERE, E, Leroy, Bp, Silvestri, G, Mckay, G, Koenekoop, Rk, Millan, Jm, Rosenberg, T, Joensuu, T, Sankila, Em, Weil, D, Weston, Md, Wissinger, B, Kremer, H.

المصدر: JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Journal of Medical Genetics, 44, 153-60
Journal of Medical Genetics, 44, 2, pp. 153-60

مصطلحات موضوعية: RECESSIVE RETINITIS-PIGMENTOSA, Microarray, Genetics and epigenetic pathways of disease [NCMLS 6], Genotype, Hearing loss, Usher syndrome, LEBER CONGENITAL AMAUROSIS, Biology, USH2A GENE, EAR SENSORY CELLS, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, SYNDROME TYPE 1F, MUTATION DETECTION, SYNDROME-TYPE-II, Retinitis pigmentosa, Genetics, medicine, Medicine and Health Sciences, Perception and Action [DCN 1], otorhinolaryngologic diseases, Neurosensory disorders [UMCN 3.3], Humans, Genotyping, Genetics (clinical), 030304 developmental biology, DNA Primers, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Genetic heterogeneity, HEARING-LOSS, 030305 genetics & heredity, Genetic Variation, DNA, medicine.disease, ARRAYED PRIMER EXTENSION, eye diseases, 3. Good health, MYOSIN VIIA GENE, Europe, Genetic defects of metabolism [UMCN 5.1], sense organs, medicine.symptom, Functional Neurogenomics [DCN 2], Usher Syndromes, PCDH15, Letter to JMG

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1907102e04096faab331e49feaf22c1
https://hdl.handle.net/2066/52397

المؤلفون: Meng, Weihua, Butterworth, Jacqueline, Bradley, Declan T., Hughes, Anne E., Soler, Vincent, Calvas, Patrick, Malecaze, Francois

المصدر: Meng , W , Butterworth , J , Bradley , D T , Hughes , A E , Soler , V , Calvas , P & Malecaze , F 2012 , ' A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population ' , Investigative Ophthalmology & Visual Science , vol. 53 , no. 13 , pp. 7983-7988 . https://doi.org/10.1167/iovs.12-10409

مصطلحات موضوعية: LARGE-SCALE, GENETIC-VARIANTS, HIGH-GRADE MYOPIA, MICRORNAS, EXPRESSION, LENS, COMMON VARIANTS, SULFOXIDE-REDUCTASE-A, SUSCEPTIBILITY LOCUS, SYNDROME TYPE 1F

Relation: https://discovery.dundee.ac.uk/en/publications/cbbbeeeb-4018-4377-a374-130017a5443a

الاتاحة: https://discovery.dundee.ac.uk/en/publications/cbbbeeeb-4018-4377-a374-130017a5443a
https://doi.org/10.1167/iovs.12-10409
http://www.scopus.com/inward/record.url?scp=84873350228&partnerID=8YFLogxK

المؤلفون: Konings, A, Van Laer, Lut, Wiktorek-Smagur, A, Rajkowska, E, Pawelczyk, M, Carlsson, PI, Bondeson, ML, Dudarewicz, A, Vandevelde, A, Fransen, E, Huyghe, J, Borg, E, Sliwinska-Kowalska, M, Van Camp, G

المصدر: ANNALS OF HUMAN GENETICS ; ISSN: 0003-4800

مصطلحات موضوعية: Medicine and Health Sciences, SYNDROME TYPE 1F, INCREASES SUSCEPTIBILITY, MICE, WORKERS, IMPAIRMENT, PCDH15, REPLICATION, LEVEL, MUTATIONS, COCHLEA

Relation: https://biblio.ugent.be/publication/800210; http://hdl.handle.net/1854/LU-800210; http://dx.doi.org/10.1111/j.1469-1809.2008.00499.x

الاتاحة: https://biblio.ugent.be/publication/800210
http://hdl.handle.net/1854/LU-800210
https://doi.org/10.1111/j.1469-1809.2008.00499.x

المؤلفون: Vozzi, D., Aaspõllu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Külm, M., Testa, F., Trevisi, P., Vahter, M., Ziviello, C., Martini, A., Simonelli, F., Sandro BANFI, Gasparini, P.

المساهمون: Vozzi, D, Aaspõllu, A, Athanasakis, E, Berto, A, Fabretto, A, Licastro, D, Külm, M, Testa, Francesco, Trevisi, P, Vahter, M, Ziviello, C, Martini, A, Simonelli, Francesca, Banfi, Sandro, Gasparini, P., Vozzi, Diego, Aaspõllu, Anu, Athanasakis, Emmanouil, Berto, Anna, Fabretto, Antonella, Licastro, Danilo, Külm, Maigi, Trevisi, Patrizia, Vahter, Marju, Ziviello, Carmela, Martini, Alessandro, Gasparini, Paolo

المصدر: Scopus-Elsevier
Europe PubMed Central
Molecular Vision

مصطلحات موضوعية: Heterozygote, Usher Syndrome, Apex-based genotyping approach, molecular assessment, SYNDROME-TYPE-II, SYNDROME TYPE 1F, GENOTYPING MICROARRAY, GENETIC-HETEROGENEITY, CAUSE DEAFNESS, Genotype, DNA Mutational Analysis, Severity of Illness Index, Genetic Heterogeneity, otorhinolaryngologic diseases, Humans, Age of Onset, Hearing Loss, Alleles, Oligonucleotide Array Sequence Analysis, Molecular Epidemiology, Homozygote, Ophthalmology, Phenotype, Italy, Mutation, Usher Syndromes, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b3ac0df646e36aaf8ed07dd337750bfa
http://www.scopus.com/inward/record.url?eid=2-s2.0-79960011547&partnerID=MN8TOARS