المؤلفون: González-Tablas Pimenta, María, Arandia, Daniel, Jara Acevedo, María, Otero Rodríguez, Álvaro, Vital, Ana Luísa, Prieto, Carlos, González García, Nerea, Nieto Librero, Ana Belén, Tao, Herminio José, Pascual, Daniel, Ruiz, Laura, Sousa, Pablo, Galindo Villardón, Purificación, Orfao de Matos Correia e Vale, José Alberto, Tabernero, María Dolores

مصطلحات موضوعية: Glioblastoma, Gene expression profile, Amplification, Intragenic deletions, heterogeneity

العلاقة: https://doi.org/10.3390/cancers12010231Test; RD12/0036/0048; AES PI16/00476-FONDOS FEDER; CB16/12/00400; González-Tablas, M., Arandia, D., Jara-Acevedo, M., Otero, Á., Vital, A. L., Prieto, C., . & Tabernero, M. D. (2020). Heterogeneous EGFR, CDK4, MDM4, and PDGFRA gene expression profiles in primary GBM: no association with patient survival. Cancers, 12(1), 231. https://doi.org/10.3390/cancers12010231Test; http://hdl.handle.net/10366/154993Test

الإتاحة: https://doi.org/10.3390/cancers12010231Test
http://hdl.handle.net/10366/154993Test

المؤلفون: María González-Tablas, Daniel Arandia, María Jara-Acevedo, Álvaro Otero, Ana-Luisa Vital, Carlos Prieto, Nerea González-Garcia, Ana Belén Nieto-Librero, Herminio Tao, Daniel Pascual, Laura Ruiz, Pablo Sousa, Purificación Galindo-Villardón, Alberto Orfao, María Dolores Tabernero

المصدر: Cancers; Volume 12; Issue 1; Pages: 231

مصطلحات موضوعية: glioblastoma, gene expression profile, amplification, intragenic deletions, heterogeneity

وصف الملف: application/pdf

العلاقة: Clinical Trials of Cancer; https://dx.doi.org/10.3390/cancers12010231Test

الإتاحة: https://doi.org/10.3390/cancers12010231Test

المؤلفون: Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: Angelman syndrome (AS), UBE3A, Intragenic deletions, MLPA, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-017-0500-xTest; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/78683611a3034c6699fa4b8a10379abeTest

المؤلفون: Aguilera, Cinthia, Viñas-Jornet, Marina, Baena Díez, Neus, Gabau, Elisabeth, Fernández, Concepción, Capdevila, Núria, Cirkovic, Sanja, Sarajlija, Adrijan, Miskovic, Marijana, Radivojevic, Danijela, Ruiz, Anna, Guitart, Míriam, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Angelman syndrome (AS), UBE3A, Intragenic deletions, MLPA

وصف الملف: application/pdf

العلاقة: Instituto de Salud Carlos III PI16-01411; BMC Medical Genetics; Vol. 18 (november 2017); https://ddd.uab.cat/record/186387Test; urn:10.1186/s12881-017-0500-x; urn:oai:ddd.uab.cat:186387; urn:pmid:29162042; urn:scopus_id:85034631823; urn:pmc-uid:5696761; urn:pmcid:PMC5696761; urn:oai:pubmedcentral.nih.gov:5696761

الإتاحة: https://ddd.uab.cat/record/186387Test

المؤلفون: Esther López-Bayghen, Ariadna González-del Angel, Felipe Camargo-Diaz, Adina Neumann, Miguel Angel Alcántara-Ortigoza

المصدر: World Journal of Clinical Cases

مصطلحات موضوعية: Growth hormone insensitivity, Growth hormone receptor mutations, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Intragenic deletions, Case report, Laron syndrome, medicine, Monoplex, Polymerase chain reaction, Whole Genome Amplification, biology, business.industry, General Medicine, medicine.disease, biology.organism_classification, Virology, Embryo diagnosis, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, Molecular diagnosis, business, Chain reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c032543549d1f727f71bd673b74a0ee5Test
http://europepmc.org/articles/PMC6906563Test

المؤلفون: María Jara-Acevedo, María González-Tablas, Nerea González-García, Álvaro Otero, Ana B. Nieto-Librero, Daniel Pascual, Alberto Orfao, Carlos Prieto, María Dolores Tabernero, Laura Ruiz, Purificación Galindo-Villardón, Pablo Sousa, Hermínio Tão, Daniel Arandia, Ana-Luisa Vital

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers
Volume 12
Issue 1
Cancers, Vol 12, Iss 1, p 231 (2020)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Platelet-Derived Growth Factor Receptor Alpha, PDGFRA, amplification, lcsh:RC254-282, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Intragenic deletions, Gene expression, medicine, Epidermal growth factor receptor, Gene, Chromosome 7 (human), Polysomy, biology, glioblastoma, Gene expression profile, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, 030104 developmental biology, intragenic deletions, Oncology, 030220 oncology & carcinogenesis, Cancer research, biology.protein, gene expression profile, heterogeneity, Heterogeneity, Glioblastoma

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6984f746c07b48d6cfc9bc541eea313fTest
http://hdl.handle.net/10261/222861Test

المؤلفون: Ericka Barbosa Trarbach, Isabella Lopes Monlleo, Carlos Guilherme Gaelzer Porciuncula, Marshall Italo Barros Fontes, Maria Teresa Mathias Baptista, Christine Hackel

المصدر: Genetics and Molecular Biology, Vol 27, Iss 3, Pp 337-341 (2004)

مصطلحات موضوعية: X-linked KS, intragenic deletions, KAL-1 gene, PCR, phenotypic variability, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006Test; https://doaj.org/toc/1415-4757Test; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/db9bd526fc1c4b0abaa329071d3aff1cTest

المؤلفون: Askree, S, Chin, Ephrem LH, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri

مصطلحات موضوعية: aCGH, Intragenic deletions, Breakpoint analysis, Molecular characterization

العلاقة: http://www.biomedcentral.com/1471-2156/14/116Test

الإتاحة: http://www.biomedcentral.com/1471-2156/14/116Test

المؤلفون: Rossing, Maria, Albrechtsen, Anders, Skytte, Anne-Bine, Jensen, Uffe B, Ousager, Lilian B, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO

المصدر: Rossing , M , Albrechtsen , A , Skytte , A-B , Jensen , U B , Ousager , L B , Gerdes , A-M , Nielsen , F C & Hansen , T VO 2017 , ' Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation ' , Journal of Human Genetics , vol. 62 , no. 2 , 62 , pp. 151-157 . https://doi.org/10.1038/jhg.2016.118Test

مصطلحات موضوعية: CANCER, CLINICAL-FEATURES, FAMILIES, FIBROFOLLICULOMAS, HOGG-DUBE-SYNDROME, IDENTIFICATION, INTRAGENIC DELETIONS, SPLICING SIGNALS, SPONTANEOUS PNEUMOTHORAX, TUMORS, Amino Acid Sequence, Genetic Predisposition to Disease, Genetic Testing, Frameshift Mutation/genetics, Proto-Oncogene Proteins/genetics, Birt-Hogg-Dube Syndrome/genetics, Humans, Lung Diseases/genetics, Polymorphism, Genetic/genetics, Tumor Suppressor Proteins/genetics, Codon, Nonsense/genetics, Denmark, RNA Splicing/genetics

الإتاحة: https://doi.org/10.1038/jhg.2016.118Test
https://pure.au.dk/portal/da/publications/genetic-screening-of-the-flcn-gene-identify-six-novel-variants-and-a-danish-founder-mutationTest(76c540d5-11ba-4745-84ad-b16354715dff).html

المؤلفون: Trarbach, Ericka Barbosa, Monlleo, Isabella Lopes, Porciuncula, Carlos Guilherme Gaelzer, Fontes, Marshall Italo Barros, Baptista, Maria Teresa Mathias, Hackel, Christine

المصدر: Genetics and Molecular Biology. January 2004 27(3)

مصطلحات موضوعية: X-linked KS, intragenic deletions, KAL-1 gene, PCR, phenotypic variability

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006Test