المؤلفون: Russell J. Diefenbach, Jenny H. Lee, Ashleigh Stewart, Alexander M. Menzies, Matteo S. Carlino, Robyn P. M. Saw, Jonathan R. Stretch, Georgina V. Long, Richard A. Scolyer, Helen Rizos

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: anchored multiplex PCR, melanoma, circulating tumor DNA, targeted sequencing, custom panel, TERT promoter, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.820510/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/d421e3d41d064555bbe005a85a89db8a

المؤلفون: Narcizo, Amanda M., Cardoso, Lais C., Benedetti, Anna F.F., Jorge, Alexander A.L., Funari, Mariana F.A., Braga, Barbara L., Franca, Monica M., Montenegro, Luciana R., Lerario, Antonio M., Nishi, Mirian Y., Mendonca, Berenice B.

المصدر: Clinics; v. 77 (2022); 100132 ; Clinics; Vol. 77 (2022); 100132 ; 1980-5322 ; 1807-5932

مصطلحات موضوعية: Multigenic custom panel, Endocrine disorders diagnostic

وصف الملف: application/pdf

Relation: https://www.revistas.usp.br/clinics/article/view/213576/195653; https://www.revistas.usp.br/clinics/article/view/213576

الاتاحة: https://www.revistas.usp.br/clinics/article/view/213576

المؤلفون: Byung-Joo Min, Woo Seung Lee, Myung-Eui Seo, Kye-Hwa Lee, Seung-Yong Jeong, Ja-Lok Ku, Yeul Hong Kim, Sang-Won Shin, Ju Han Kim

المصدر: Cancers; Volume 13; Issue 20; Pages: 5112

مصطلحات موضوعية: precision medicine, targeted sequencing, custom panel, pharmacogenomics

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers13205112

الاتاحة: https://doi.org/10.3390/cancers13205112

المؤلفون: María Lachgar, Matías Morín, Manuela Villamar, Ignacio del Castillo, Miguel Ángel Moreno-Pelayo

المصدر: Genes; Volume 12; Issue 3; Pages: 411

مصطلحات موضوعية: hereditary hearing loss, next-generation sequencing, custom panel, HOMER2, CDC42

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12030411

الاتاحة: https://doi.org/10.3390/genes12030411

المؤلفون: Jõelo, Pirjo

المساهمون: Pfahl, Dietmar Alfred Paul Kurt, juhendaja, Tartu Ülikool. Loodus- ja täppisteaduste valdkond, Tartu Ülikool. Arvutiteaduse instituut

مصطلحات موضوعية: Autonomous Driving, Automated Disengagement Analysis, FoxGlove Custom Panel, Validation Study, Autonoomne sõitmine, Automatiseeritud ülevõtmise analüüs, FoxGlove kohandaud paneel, Kinnitamisuuring, bakalaureusetööd, informaatika, infotehnoloogia, informatics, infotechnology

وصف الملف: application/pdf; application/zip

Relation: https://hdl.handle.net/10062/104977

الاتاحة: https://hdl.handle.net/10062/104977

المؤلفون: De Biase D., Acquaviva G., Visani M., Sanza V., Argento C. M., De Leo A., Maloberti T., Pession A., Tallini G.

المساهمون: De Biase D., Acquaviva G., Visani M., Sanza V., Argento C.M., De Leo A., Maloberti T., Pession A., Tallini G.

مصطلحات موضوعية: Multi-gene custom panel, Mutational analysi, Next generation sequencing, Solid tumor

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32340363; info:eu-repo/semantics/altIdentifier/wos/WOS:000534251000041; volume:10; issue:4; firstpage:250; lastpage:266; numberofpages:17; journal:DIAGNOSTICS; http://hdl.handle.net/11585/783060; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083796895; https://www.mdpi.com/2075-4418/10/4/250

الاتاحة: http://hdl.handle.net/11585/783060
https://doi.org/10.3390/diagnostics10040250
https://www.mdpi.com/2075-4418/10/4/250

المؤلفون: Diefenbach, Russell J., Lee, Jenny, Menzies, Alexander M., Carlino, Matteo S., Long, Georgina V., Saw, Robyn, Howle, Julie, Spillane, Andrew J., Scolyer, Richard A., Kefford, Richard F., Rizos, Helen

المصدر: Diefenbach , R J , Lee , J , Menzies , A M , Carlino , M S , Long , G V , Saw , R , Howle , J , Spillane , A J , Scolyer , R A , Kefford , R F & Rizos , H 2020 , ' Design and testing of a custom melanoma next generation sequencing panel for analysis of circulating tumor DNA ' , Cancers , vol. 12 , no. 8 , 2228 , pp. 1-16 . https://doi.org/10.3390/cancers12082228

مصطلحات موضوعية: melanoma, circulating tumour DNA, targeted sequencing, custom panel

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/6717f3d3-fa0a-442c-86df-35ea5bbc13e9
https://doi.org/10.3390/cancers12082228
https://research-management.mq.edu.au/ws/files/128705389/Publisher_version_open_access_.pdf
http://www.scopus.com/inward/record.url?scp=85090254007&partnerID=8YFLogxK

المؤلفون: Amanda M. Narcizo, Lais C. Cardoso, Anna F.F. Benedetti, Alexander A.L. Jorge, Mariana F.A. Funari, Barbara L. Braga, Monica M. Franca, Luciana R. Montenegro, Antonio M. Lerario, Mirian Y. Nishi, Berenice B. Mendonca

المصدر: Clinics, Volume: 77, Article number: 100132, Published: 09 DEC 2022

مصطلحات موضوعية: Multigenic custom panel, Tertiary Care Centers, Phenotype, Mutation, High-Throughput Nucleotide Sequencing, General Medicine, Endocrine disorders diagnostic, Retrospective Studies

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0cca1b8063c0d969ae7dba8887ec5fc
https://pubmed.ncbi.nlm.nih.gov/36288632

المؤلفون: Maksemous, Neven, Smith, Robert, Haupt, Larisa, Griffiths, Lyn

المصدر: Human Genomics

مصطلحات موضوعية: AmpliSeq Custom Panel, CADASIL, NOTCH3, Next-generation sequencing

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/105626/8/105626.pdf; Maksemous, Neven, Smith, Robert, Haupt, Larisa, & Griffiths, Lyn (2016) Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. Human Genomics, 10, Article number: 38 1-12.; https://eprints.qut.edu.au/105626/; Faculty of Health; Institute of Health and Biomedical Innovation

الاتاحة: https://eprints.qut.edu.au/105626/

المؤلفون: Russell J. Diefenbach, Jenny H. Lee, Ashleigh Stewart, Alexander M. Menzies, Matteo S. Carlino, Robyn P. M. Saw, Jonathan R. Stretch, Georgina V. Long, Richard A. Scolyer, Helen Rizos

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, anchored multiplex PCR, melanoma, circulating tumor DNA, targeted sequencing, custom panel, TERT promoter

Relation: https://figshare.com/articles/dataset/Table_2_Anchored_Multiplex_PCR_Custom_Melanoma_Next_Generation_Sequencing_Panel_for_Analysis_of_Circulating_Tumor_DNA_xlsx/19580848

الاتاحة: https://doi.org/10.3389/fonc.2022.820510.s005
https://figshare.com/articles/dataset/Table_2_Anchored_Multiplex_PCR_Custom_Melanoma_Next_Generation_Sequencing_Panel_for_Analysis_of_Circulating_Tumor_DNA_xlsx/19580848

المؤلفون: Russell J. Diefenbach, Jenny H. Lee, Ashleigh Stewart, Alexander M. Menzies, Matteo S. Carlino, Robyn P. M. Saw, Jonathan R. Stretch, Georgina V. Long, Richard A. Scolyer, Helen Rizos

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, anchored multiplex PCR, melanoma, circulating tumor DNA, targeted sequencing, custom panel, TERT promoter

Relation: https://figshare.com/articles/figure/Image_2_Anchored_Multiplex_PCR_Custom_Melanoma_Next_Generation_Sequencing_Panel_for_Analysis_of_Circulating_Tumor_DNA_tif/19580833

الاتاحة: https://doi.org/10.3389/fonc.2022.820510.s002
https://figshare.com/articles/figure/Image_2_Anchored_Multiplex_PCR_Custom_Melanoma_Next_Generation_Sequencing_Panel_for_Analysis_of_Circulating_Tumor_DNA_tif/19580833

المؤلفون: Ju Han Kim, Seung-Yong Jeong, Kye Hwa Lee, Byung Joo Min, Sang Won Shin, Ja-Lok Ku, Myung Eui Seo, Yeul Hong Kim, Woo Seung Lee

المصدر: Cancers
Volume 13
Issue 20
Cancers, Vol 13, Iss 5112, p 5112 (2021)

مصطلحات موضوعية: pharmacogenomics, Cancer Research, business.industry, precision medicine, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Cancer, Computational biology, Precision medicine, medicine.disease, Tumor tissue, DNA sequencing, Article, Oncology, Pharmacogenomics, custom panel, medicine, Copy-number variation, targeted sequencing, Gene screening, business, RC254-282, Companion diagnostic

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83bedde34c4632cdb2f0dc04d1ab9dfb
https://pubmed.ncbi.nlm.nih.gov/34680263

المؤلفون: Robyn P. M. Saw, Julie Howle, Richard A. Scolyer, Andrew J. Spillane, Georgina V. Long, Helen Rizos, Richard F. Kefford, Russell J. Diefenbach, Matteo S. Carlino, Jenny H. Lee, Alexander M. Menzies

المصدر: Cancers, Vol 12, Iss 2228, p 2228 (2020)
Cancers
Volume 12
Issue 8

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, medicine.disease_cause, lcsh:RC254-282, Article, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Digital polymerase chain reaction, Stage (cooking), targeted sequencing, Gene, Melanoma, circulating tumor DNA, Mutation, business.industry, Amplicon, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, genomic DNA, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, custom panel, Cancer research, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96e9e9beefc18d91ab260470ae435cd7
https://www.mdpi.com/2072-6694/12/8/2228

المؤلفون: Truelsen, D. M., Pereira, V., Phillips, C., Morling, N., Børsting, C.

المصدر: Truelsen , D M , Pereira , V , Phillips , C , Morling , N & Børsting , C 2019 , ' The EUROFORGEN NAME Ampliseq™ custom panel : A second tier panel developed for differentiation of individuals from the Middle East/North Africa ' , Forensic Science International: Genetics Supplement Series , vol. 7 , no. 1 , pp. 846-848 . https://doi.org/10.1016/j.fsigss.2019.10.199

مصطلحات موضوعية: Ancestry informative markers, EUROFORGEN NAME ancestry panel, Ion AmpliSeq™ custom panel, Ion S5™ sequencing, NAME, Second-tier panel

الاتاحة: https://curis.ku.dk/portal/da/publications/the-euroforgen-name-ampliseq-custom-panel(dfa85163-9943-4ff0-ae4c-33290d48ac3b).html
https://doi.org/10.1016/j.fsigss.2019.10.199

المؤلفون: Bishakha Roy, Neven Maksemous, Lyn R. Griffiths, Robert A. Smith

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Ataxia, next‐generation sequencing, Biology, medicine.disease_cause, CACNA1A, Frameshift mutation, AmpliSeq custom panel, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, ATP1A2, Genetics, medicine, Spinocerebellar ataxia type 6, Missense mutation, Molecular Biology, Genetics (clinical), Familial hemiplegic migraine, Sanger sequencing, Mutation, Original Articles, medicine.disease, Molecular biology, 030104 developmental biology, episodic ataxia type 2, symbols, Original Article, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9219a22b863ef4e964d45d8941ead13
http://europepmc.org/articles/PMC4799871

المؤلفون: Alessandra Rufa, Alessandra Renieri, Antonio Federico, Maria Antonietta Mencarelli, Francesca Mari, Giulia Carignani, Chiara Fallerini, Alessandro Rossi, Giorgio Capoccitti, Caterina Lo Rizzo, Fabio Giannini, Anna Maria Pinto

المصدر: Journal of the Neurological Sciences. 359:409-417

مصطلحات موضوعية: Adult, Dynamins, Male, Sporadic next generation sequencing technology, DNA Mutational Analysis, Biology, Custom panel, DNA sequencing, GTP Phosphohydrolases, Mitochondrial Proteins, Dynamin II, symbols.namesake, Locus heterogeneity, medicine, Humans, Inheritance Patterns, Hereditary motor and sensory neuropathies, Sanger sequencing, Genetics, Genetic heterogeneity, Low-cost diagnosis, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, DNM2, Neurology, Mutation, Mutation (genetic algorithm), symbols, Mendelian inheritance, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be7cdc3243e72c094c2bef755e12db9
https://doi.org/10.1016/j.jns.2015.09.377

المؤلفون: Campuzano O, Allegue C, Sarquella-Brugada G, Coll M, Mates J, Alcalde M, Ferrer-Costa C, Iglesias A, Brugada-Terradellas J, Brugada R

المصدر: FORENSIC SCIENCE INTERNATIONAL
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Custom panel, Genetics, Molecular autopsy, Next generation sequencing, SIDS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c1358f34270af43b493c53a3dc3446e
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7595

المؤلفون: Neven Maksemous, Larisa M. Haupt, Robert A. Smith, Lyn R. Griffiths

المصدر: Human Genomics

مصطلحات موضوعية: 0301 basic medicine, DNA Mutational Analysis, CADASIL, Gene mutation, Biology, Leukoencephalopathy, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, NOTCH3, Drug Discovery, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Receptor, Notch3, Molecular Biology, Genetic Association Studies, Familial hemiplegic migraine, Sanger sequencing, High-Throughput Nucleotide Sequencing, AmpliSeq Custom Panel, medicine.disease, Human genetics, 030104 developmental biology, Molecular Diagnostic Techniques, Next-generation sequencing, symbols, Molecular Medicine, Primary Research, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a72e9011af9622a228d079a52d50cdb

المؤلفون: Maksemous, Neven, Roy, Bishakha, Smith, Robert, Griffiths, Lyn

المصدر: Molecular Genetics and Genomic Medicine

مصطلحات الفهرس: AmpliSeq Custom Panel, CACNA1A, Episodic Ataxia type 2, Next Generation Sequencing., Contribution to Journal

URL: https://eprints.qut.edu.au/220960/1/Maksemous%2Bet%2Bal_2016.pdf
https://eprints.qut.edu.au/220960/1/Maksemous%2Bet%2Bal_2016.pdf
doi:10.1002/mgg3.196
Maksemous, Neven, Roy, Bishakha, Smith, Robert, & Griffiths, Lyn (2016) Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. Molecular Genetics and Genomic Medicine, 4(2), pp. 211-222.