المؤلفون: T. V. Markova, V. V. Mavlyukeeva, B. G. Ginzburg, O. A. Shchagina, S. S. Nikitin, E. L. Dadali

المصدر: Нервно-мышечные болезни, Vol 13, Iss 3, Pp 48-53 (2023)

مصطلحات موضوعية: syndrome of craniofacial dysmorphias-deafness-anomalies of the upper extremities, pax3 gene, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/559; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/92dd45dce0c84780becfbc4422bd13da

المؤلفون: Doğan, Mustafa, Eröz, Recep

مصطلحات موضوعية: Waardenburg Syndrome, Congenital Auditory-Pigmentary Syndrome, Pax3 Gene

Relation: Jcpsp-Journal of The College of Physicians and Surgeons Pakistan; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.29271/jcpsp.2022.Supp2.S110; https://hdl.handle.net/20.500.12684/13419; 32; S110; S112; 2-s2.0-85139418481; WOS:000880579900001

الاتاحة: https://hdl.handle.net/20.500.12684/13419
https://doi.org/10.29271/jcpsp.2022.Supp2.S110

المؤلفون: Qiuming Hu, Huazhong Ma, Jiawei Shen, Zongming Zhuang, Jianqiang Li, Xinlan Huang, Xian Li, Haoyu Li

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Waardenburg Syndrome Type 1, Heterochromia iridis, PAX3 gene, whole exome sequencing, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.609040/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1feb805ef0de4d84a997ec1be107bac6

المؤلفون: Kurt, Fatih, Doğan, Mustafa, Eröz, Recep

مصطلحات موضوعية: Waardenburg, PAX3 geni, Sensörinöral işitme kaybı, Waardenburg Syndrome, PAX3 gene, Sensorineural hearing loss

وصف الملف: application/pdf

Relation: Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi (Journal of Duzce University Health Sciences Institute); Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; Kurt, F., Doğan, M. & Eröz, R. (2021). Waardenburg Sendromu'nda Tanımlanan Çok Nadir Bir PAX3 Geni Varyantı: c.232G>A(p.Val78Met) . Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 11 (2), 261-264.; https://dx.doi.org/10.33631/duzcesbed.894013; https://hdl.handle.net/20.500.12899/355; 11; 261; 264

الاتاحة: https://hdl.handle.net/20.500.12899/355
https://doi.org/10.33631/duzcesbed.894013

المؤلفون: Shanshan Lin, Aiguo Ren, Linlin Wang, Chloe Santos, Yun Huang, Lei Jin, Zhiwen Li, Nicholas D. E. Greene

المصدر: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: Neural tube defects, Pax3 gene, Methylation, Benzo[a]pyrene, Polycyclic aromatic hydrocarbon, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-019-0611-7; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/1fff2a3ba98d4998b9cd9e820f39384f

المؤلفون: Eun Young Choi, Wungrak Choi, Christopher Seungkyu Lee

المصدر: BMC Ophthalmology, Vol 18, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Waardenburg syndrome, PAX3 gene mutation, Hyperhomocysteinemia, Branch retinal vein occlusion, Branch retinal artery occlusion, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12886-018-0933-9; https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/966fdff8cedc4be789693ee2b9a2ced2

المؤلفون: Lin, S, Ren, A, Wang, L, Santos, C, Huang, Y, Jin, L, Li, Z, Greene, NDE

المصدر: Clinical Epigenetics , 11 (1) , Article 13. (2019)

مصطلحات موضوعية: Benzo[a]pyrene, Methylation, Neural tube defects, Pax3 gene, Polycyclic aromatic hydrocarbon

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10067017/1/Lin2019_Article_AberrantMethylationOfPax3GeneA.pdf; https://discovery.ucl.ac.uk/id/eprint/10067017/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10067017/1/Lin2019_Article_AberrantMethylationOfPax3GeneA.pdf
https://discovery.ucl.ac.uk/id/eprint/10067017/

المؤلفون: Mustafa Doğan, Fatih Kurt, Recep Eröz

المساهمون: Doğan, Mustafa, [Belirlenecek]

المصدر: Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, Vol 11, Iss 2, Pp 261-264 (2021)

مصطلحات موضوعية: PAX3 gene, Medicine (General), sensörinöral i̇şitme kaybı, Sensörinöral işitme kaybı, waardenburg, business.industry, PAX3 geni, [No Keywords], sensorineural hearing loss, Sensorineural hearing loss, R5-920, Medicine, pax3 geni, Waardenburg, Waardenburg Syndrome, business, pax3 gene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32862e38f13d78757a274941cb0685e3
https://dergipark.org.tr/tr/pub/duzcesbed/issue/61175/894013

المؤلفون: Pardono, Eliete, Mazzeu, Juliana F., Lezirovitz, Karina, Auricchio, Maria Teresa B.M., Iughetti, Paula, Nascimento, Rafaella M.P., Mingroni-Netto, Regina C., Otto, Paulo A.

المصدر: Genetics and Molecular Biology. January 2006 29(4)

مصطلحات موضوعية: Waardenburg syndrome, PAX3 gene, incomplete penetrance, sensorineural hearing impairment, telecanthus

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003

المؤلفون: Eliete Pardono, Juliana F. Mazzeu, Karina Lezirovitz, Maria Teresa B.M. Auricchio, Paula Iughetti, Rafaella M.P. Nascimento, Regina C. Mingroni-Netto, Paulo A. Otto

المصدر: Genetics and Molecular Biology, Vol 29, Iss 4, Pp 601-604 (2006)

مصطلحات موضوعية: Waardenburg syndrome, PAX3 gene, incomplete penetrance, sensorineural hearing impairment, telecanthus, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/b238f0dc81c149b28f4296f915ae23cd

المؤلفون: Fumihiko Horio, Hiroto Katoh, Misato Kobayashi, Miyako Suzuki, Tamio Ohno, Tomoki Maegawa, Yuki Miyasaka

المصدر: Experimental Animals. 2017, 66(3):245

المؤلفون: Qiuming Hu (10228217), Huazhong Ma (10228220), Jiawei Shen (151538), Zongming Zhuang (10228223), Jianqiang Li (390212), Xinlan Huang (10228226), Xian Li (201841), Haoyu Li (1672648)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Waardenburg Syndrome Type 1, Heterochromia iridis, PAX3 gene, whole exome sequencing, case report

Relation: https://figshare.com/articles/figure/Image_1_Case_Report_A_Novel_PAX3_Mutation_Associated_With_Waardenburg_Syndrome_Type_1_tif/14158778

الاتاحة: https://doi.org/10.3389/fgene.2021.609040.s002

المؤلفون: Qiuming Hu (10228217), Huazhong Ma (10228220), Jiawei Shen (151538), Zongming Zhuang (10228223), Jianqiang Li (390212), Xinlan Huang (10228226), Xian Li (201841), Haoyu Li (1672648)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Waardenburg Syndrome Type 1, Heterochromia iridis, PAX3 gene, whole exome sequencing, case report

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Case_Report_A_Novel_PAX3_Mutation_Associated_With_Waardenburg_Syndrome_Type_1_docx/14158772

الاتاحة: https://doi.org/10.3389/fgene.2021.609040.s001

المؤلفون: Drozniewska, Malgorzata, Haus, Olga

مصطلحات موضوعية: PAX3 gene, Array-CGH, Hearing loss, Waardenburg syndrome, Craniofacial-deafness-hand syndrome

Relation: http://www.molecularcytogenetics.org/content/7/1/30

الاتاحة: http://www.molecularcytogenetics.org/content/7/1/30

المؤلفون: Ohno, Tamio, Maegawa, Tomoki, Katoh, Hiroto, Miyasaka, Yuki, Suzuki, Miyako, Kobayashi, Misato, Horio, Fumihiko

المصدر: Experimental Animals

مصطلحات موضوعية: Original, missense mutation, Mutation, Missense, Mice, Inbred Strains, DNA, musculoskeletal system, Pax3 gene, Disease Models, Animal, Methionine, Protein Domains, embryonic structures, Animals, Humans, Point Mutation, Waardenburg Syndrome, Amino Acid Sequence, embryonic lethal, Isoleucine, PAX3 Transcription Factor, mouse, white spotting, Alleles, Helix-Turn-Helix Motifs, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ace710be00842a08b2ce52537220a09b
http://europepmc.org/articles/PMC5543245

المؤلفون: Linlin Wang, Shanshan Lin, Aiguo Ren, Yun Huang, Nicholas D. E. Greene, Zhiwen Li, Lei Jin, Chloe Santos

المصدر: Clinical Epigenetics
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Medicine, Pax3 gene, chemistry.chemical_compound, Mice, 0302 clinical medicine, Pregnancy, Gene expression, Vitamin E, Neural Tube Defects, Polycyclic Aromatic Hydrocarbons, Promoter Regions, Genetic, Genetics (clinical), education.field_of_study, Methylation, musculoskeletal system, Polycyclic aromatic hydrocarbon, Benzo[a]pyrene, medicine.anatomical_structure, Benzo(a)pyrene, CpG site, Maternal Exposure, 030220 oncology & carcinogenesis, DNA methylation, embryonic structures, Body region, Female, Maternal Age, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Population, Biology, Andrology, 03 medical and health sciences, Genetics, medicine, Animals, Humans, education, Molecular Biology, PAX3 Transcription Factor, Research, lcsh:R, Neural tube, DNA Methylation, lcsh:Genetics, Disease Models, Animal, 030104 developmental biology, chemistry, Gene Expression Regulation, Case-Control Studies, CpG Islands, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ce2a4e55e35e1501791566a20a856ea
http://europepmc.org/articles/PMC6341549

المؤلفون: Wungrak Choi, Christopher Seungkyu Lee, Eun Young Choi

المصدر: BMC Ophthalmology
BMC Ophthalmology, Vol 18, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Retinal Vein, genetic structures, Branch retinal vein occlusion, Fundus Oculi, Retinal Artery Occlusion, Branch retinal artery occlusion, Posterior pole, DNA Mutational Analysis, Visual Acuity, Hyperhomocysteinemia, Case Report, Fundus (eye), 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, Ophthalmology, Republic of Korea, Retinal Vein Occlusion, medicine, Humans, Waardenburg Syndrome, Artery occlusion, Fluorescein Angiography, Waardenburg Syndrome Type 1, PAX3 Transcription Factor, Waardenburg syndrome, business.industry, General Medicine, DNA, medicine.disease, eye diseases, Pedigree, PAX3 gene mutation, 030104 developmental biology, lcsh:RE1-994, Mutation, 030221 ophthalmology & optometry, business, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f760deb4fd1a3884d9ebb6f7d02ce6e8
https://pubmed.ncbi.nlm.nih.gov/30314436

المؤلفون: Kazuhiro Tsukamoto, Norio Niikawa

المصدر: Otology Japan. 1996, 6(2):115

المؤلفون: Song, J, Feng, Y, Acke, Frederic, Coucke, Paul, Vleminckx, Kris, Dhooge, Ingeborg

المصدر: CLINICAL GENETICS ; ISSN: 0009-9163

مصطلحات موضوعية: Medicine and Health Sciences, hearing loss, phenotype, inner ear malformation, genotype, Waardenburg syndrome, SYNDROME TYPE-I, B-RECEPTOR GENE, TEMPORAL BONE ABNORMALITIES, NOVO SOX10 MUTATION, SYNDROME TYPE-1 WS1, HUP2 PAIRED DOMAIN, PAX3 GENE, HIRSCHSPRUNG-DISEASE, MITF GENE, TRUNCATING MUTATIONS

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/7236430; http://hdl.handle.net/1854/LU-7236430; http://dx.doi.org/10.1111/cge.12631; https://biblio.ugent.be/publication/7236430/file/7236447

الاتاحة: https://biblio.ugent.be/publication/7236430
http://hdl.handle.net/1854/LU-7236430
https://doi.org/10.1111/cge.12631
https://biblio.ugent.be/publication/7236430/file/7236447

المؤلفون: Regina Célia Mingroni-Netto, Rafaella M.P. Nascimento, Maria Teresa B. M. Auricchio, Paulo Alberto Otto, Eliete Pardono, Paula Iughetti, Juliana F. Mazzeu, Karina Lezirovitz

المصدر: Genetics and Molecular Biology v.29 n.4 2006
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 29, Issue: 4, Pages: 601-604, Published: 2006
Genetics and Molecular Biology, Vol 29, Iss 4, Pp 601-604 (2006)

مصطلحات موضوعية: Genetics, PAX3 gene, Mutation, lcsh:QH426-470, incomplete penetrance, Waardenburg syndrome, PAX3, Biology, medicine.disease_cause, medicine.disease, Penetrance, lcsh:Genetics, chemistry.chemical_compound, Exon, sensorineural hearing impairment, chemistry, telecanthus, medicine, Missense mutation, Penetrant (biochemical), Molecular Biology, Gene

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad4de2ffa7d41169f0bbc045292edd0
https://doi.org/10.1590/s1415-47572006000400003