المؤلفون: Melanie MY Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, Alina C Hilger, Horia C Stanescu, Catalin D Voinescu, Glenda M Beaman, William G Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O Connolly, Dan Wood, Carlo Maj, Alexander Stuckey, Athanasios Kousathanas, Genomics England Research Consortium, Robert Kleta, Adrian S Woolf, Detlef Bockenhauer, Adam P Levine, Daniel P Gale

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: whole-genome sequencing, genome-wide association study, seqGWAS, CAKUT, PUV, posterior urethral valves, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/74777; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/b936c97484754cea89d1fbd490886997

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.896125/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1

المؤلفون: J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman

المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024920313644; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/61fa727ff6fc45e5a26768306ca2daf2

المؤلفون: Jennifer Shield (9491210), S Braat (10737855), M Watts (9616157), G Robertson (9848432), M Beaman (10737858), J McLeod (10018571), RW Baird (10737861), J Hart (5944325), J Robson (10737864), R Lee (8349291), S McKessar (10737867), S Nicholson (10737870), J Mayer-Coverdale (10737873), BA Biggs (10737876)

مصطلحات موضوعية: Uncategorized, Science & Technology, Life Sciences & Biomedicine, Infectious Diseases, Parasitology, Tropical Medicine, Strongyloides Stercoralis, Australia, seropositivity, Geographical distribution

Relation: https://figshare.com/articles/journal_contribution/Seropositivity_and_geographical_distribution_of_strongyloides_stercoralis_in_australia_A_study_of_pathology_laboratory_data_from_2012_2016/14528553

الاتاحة: https://doi.org/10.26181/608f9a87acec3

المؤلفون: Glenda M. Beaman, Raimondo M. Cervellione, David Keene, Heiko Reutter, William G. Newman

المصدر: Genes; Volume 12; Issue 8; Pages: 1149

مصطلحات موضوعية: BEEC, bladder exstrophy, epispadias, cloacal exstrophy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12081149

الاتاحة: https://doi.org/10.3390/genes12081149

المؤلفون: Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter

المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

مصطلحات موضوعية: SLC20A1, urinary tract development, kidney formation, zebrafish development, cloacal malformation, functional genetics, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcell.2020.00567/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/9c651c06182b43e58e089d5b84ebbebc

المؤلفون: Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T. Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Skin Research Institute of Singapore, A*STAR, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (9)

المصدر: British Journal of Dermatology, 187(6), 948-961. Wiley

مصطلحات موضوعية: Comparative Genomic Hybridization, Germ Cells, DNA Copy Number Variations, Carcinoma, Basal Cell, Microfilament Proteins, Humans, Follicular Atrophoderma, Medicine [Science], Dermatology, Hypotrichosis, Hair Follicle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce266f5315a5c98055d5aabca2e9efeb
https://doi.org/10.1111/bjd.21842

المؤلفون: Derek M. Beaman, Chris D. Lubke, Joshua M. Mouras

المصدر: Civil Engineering Magazine. 92:54-61

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3daab2507083052d43cc4773906b0aa8
https://doi.org/10.1061/ciegag.0001633

المؤلفون: Derek M. Beaman, Tom Meyer, C. Stephen Pool

المصدر: Civil Engineering Magazine. 92:54-61

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::afc3b4c5ec0da0615adb392acc77b3ef
https://doi.org/10.1061/ciegag.0001628

المؤلفون: Celine Grenier, Filipa M. Lopes, Anna M. Cueto-González, Eulàlia Rovira-Moreno, Romy Gander, Benjamin W. Jarvis, Karen D. McCloskey, Alison M. Gurney, Glenda M. Beaman, William G. Newman, Adrian S. Woolf, Neil A. Roberts

المصدر: Kidney International Reports.

مصطلحات موضوعية: Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e99cac17e249141bcf70ee1b164f9bc
https://doi.org/10.1016/j.ekir.2023.04.017

المؤلفون: Celine Grenier, Filipa M. Lopes, Anna M Cueto-González, Eulàlia Rovira-Moreno, Romy Gander, Benjamin W Jarvis, Karen D. McCloskey, Alison M. Gurney, Glenda M. Beaman, William G. Newman, Adrian S. Woolf, Neil A. Roberts

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35e49d20332dfbc5e75ea504b3170f62
https://doi.org/10.1101/2022.12.06.22283097

المؤلفون: Sangeet Sidhu, J. Robert Harkness, John A. Sayer, Katherine A. Wood, Helen M. Stuart, Keng Wee Teik, Heather J. Cordell, Huw B. Thomas, Adrian S. Woolf, Glenda M. Beaman, William G. Newman

المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Kidney International Reports

مصطلحات موضوعية: Nephrology, Early B-Cell Factor, business.industry, Urofacial syndrome, MEDLINE, Medicine, Disease, Nephrology Rounds, business, medicine.disease, Bioinformatics, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb53ea7eda8248cbf33f6b1fa8c7178e
http://www.sciencedirect.com/science/article/pii/S2468024920313644

المؤلفون: Glenda M, Beaman, Filipa M, Lopes, Aybike, Hofmann, Wolfgang, Roesch, Martin, Promm, Emilia K, Bijlsma, Chirag, Patel, Aykut, Akinci, Berk, Burgu, Jeroen, Knijnenburg, Gladys, Ho, Christina, Aufschlaeger, Sylvia, Dathe, Marie Antoinette, Voelckel, Monika, Cohen, Wyatt W, Yue, Helen M, Stuart, Edward A, Mckenzie, Mark, Elvin, Neil A, Roberts, Adrian S, Woolf, William G, Newman

المصدر: Frontiers in genetics. 13

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::59ae0b21c94e05f2536463f5a7b0e8bf
https://pubmed.ncbi.nlm.nih.gov/35812751

المؤلفون: Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f771ae001418a78ce8b7b617e700c3ed
https://doi.org/10.1101/2022.02.12.22270762

المؤلفون: Glenda M. Beaman, Adrian S. Woolf, Filipa M. Lopes, Shuang Andrew Guo, J. Robert Harkness, Raimondo M. Cervellione, David Keene, Imran Mushtaq, Menna R. Clatworthy, William G. Newman

المصدر: Journal of pediatric urology. 18(3)

مصطلحات موضوعية: Epispadias, Pregnancy, Urology, Pediatrics, Perinatology and Child Health, Bladder Exstrophy, Urinary Bladder, Humans, Female, Chromosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d32353daa545bddfdce75d038e5d37ab
https://pubmed.ncbi.nlm.nih.gov/35491304

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

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, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease

Relation: https://figshare.com/articles/dataset/Table1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_XLSX/20129276

الاتاحة: https://doi.org/10.3389/fgene.2022.896125.s002
https://figshare.com/articles/dataset/Table1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_XLSX/20129276

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

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, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease

Relation: https://figshare.com/articles/media/Video1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_MP4/20129279

الاتاحة: https://doi.org/10.3389/fgene.2022.896125.s003
https://figshare.com/articles/media/Video1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_MP4/20129279

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

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, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease

Relation: https://figshare.com/articles/figure/Image1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_JPEG/20129273

الاتاحة: https://doi.org/10.3389/fgene.2022.896125.s001
https://figshare.com/articles/figure/Image1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_JPEG/20129273

المؤلفون: Jamie M Ellingford, Huw B. Thomas, Raymond T. O'Keefe, Glenda M. Beaman, Sofia Douzgou, William G. Newman, Katrina Prescott, Katherine A. Wood, Emma Hobson

المصدر: Newman, W, Wood, K, O'Keefe, R, Ellingford, J, Thomas, H, Douzgou, S, Beaman, G, Hobson, E & Prescott, K 2022, ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ', Clinical Genetics, vol. 101, no. 2, pp. 255-259 . https://doi.org/10.1111/cge.14082

مصطلحات موضوعية: Heart Defects, Congenital, Spliceosome, Genotype, RNA Splicing, Biology, Deafness, Choanal Atresia, Exon, splicing, Rare Disease, Genetics, Humans, Genetic Predisposition to Disease, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), Alleles, Genetic Association Studies, Ribonucleoprotein, U5 Small Nuclear, Binding Sites, burn mckeown syndrome, TNXL4A, Facies, Promoter, Pedigree, DNA binding site, Phenotype, RNA splicing, Mutation, Female, Trans-acting, Minigene, Protein Binding, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21d6a68dc4a89c7713b820bc8c4fee
https://pubmed.ncbi.nlm.nih.gov/34713892

المؤلفون: Melanie M Y, Chan, Omid, Sadeghi-Alavijeh, Filipa M, Lopes, Alina C, Hilger, Horia C, Stanescu, Catalin D, Voinescu, Glenda M, Beaman, William G, Newman, Marcin, Zaniew, Stefanie, Weber, Yee Mang, Ho, John O, Connolly, Dan, Wood, Carlo, Maj, Alexander, Stuckey, Athanasios, Kousathanas, Robert, Kleta, Adrian S, Woolf, Detlef, Bockenhauer, Adam P, Levine, M, Zarowiecki

المصدر: eLife. 11

مصطلحات موضوعية: Male, Humans, Receptor Protein-Tyrosine Kinases, Child, T-Box Domain Proteins, Urinary Tract, Cell Adhesion Molecules, Chromatin, Genome-Wide Association Study, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::47e52f92bf607f5f158e98f98b97c5d3
https://pubmed.ncbi.nlm.nih.gov/36124557