المؤلفون: Farrah Bakr, Anjana Kulkarni, Stephen Mounsey, Tracey Mitchell, Sean Whittaker, Katie Lacy

المصدر: JEADV Clinical Practice, Vol 3, Iss 4, Pp 1236-1239 (2024)

مصطلحات موضوعية: familial melanoma, germline mutation, germline variant, melanoma, melanoma‐susceptibility genes, POT1, Dermatology, RL1-803, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2768-6566

URL الوصول: https://doaj.org/article/145699f5d19947daae9d90f496fb4d28

المؤلفون: Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carraro

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15830 (2023)

مصطلحات موضوعية: familial melanoma, melanoma predisposition, melanoma susceptibility, germline pathogenic variants, multiple primary neoplasms, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/21/15830; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/89c161a7c04a44a5b339c4a324933fd3

الاتاحة: https://doi.org/10.3390/ijms242115830
https://doaj.org/article/89c161a7c04a44a5b339c4a324933fd3

المؤلفون: Vivien Marasigan, Canan Güvenç, Joost J. van den Oord, Marguerite Stas, Veerle Boecxstaens, Oliver Bechter, Pascal Wolter, Diether Lambrechts, Marjan Garmyn

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 12, Pp 1154-1159 (2019)

مصطلحات موضوعية: melanoma, clinical risk factors, melanoma susceptibility, outcome, chronic cumulative photodamage, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3270; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/791f416fecdf41659f1b07bba49a132c

المؤلفون: Francesco Spagnolo, Bruna Dalmasso, Enrica Tanda, Miriam Potrony, Susana Puig, Remco van Doorn, Ellen Kapiteijn, Paola Queirolo, Hildur Helgadottir, Paola Ghiorzo

المصدر: Cancers; Volume 13; Issue 10; Pages: 2440

مصطلحات موضوعية: melanoma, CDKN2A, targeted therapy, BRAF inhibitors, MEK inhibitors, genetic counseling, melanoma susceptibility

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers13102440

الاتاحة: https://doi.org/10.3390/cancers13102440

المؤلفون: Krystian Mokrzynski, Shosuke Ito, Kazumasa Wakamatsu, Theodore G. Camenish, Tadeusz Sarna, Michal Sarna

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 9; Pages: 4465

مصطلحات موضوعية: melanoma susceptibility, skin phototypes, melanin pigmentation, eumelanin, pheomel-anin, DHI-melanin, DHICA-melanin, BZ-melanin, BT-melanin, photoreactivity, singlet oxygen

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Bioactives and Nutraceuticals; https://dx.doi.org/10.3390/ijms22094465

الاتاحة: https://doi.org/10.3390/ijms22094465

المؤلفون: De Simone, P, Bottillo, I, Valiante, M, Iorio, A, De Bernardo, C, Majore, S, D'Angelantonio, D, Valentini, T, Sperduti, I, Piemonte, P, Eibenschutz, L, Ferrari, A, Carbone, A, Buccini, P, Paiardini, A, Silipo, V, Frascione, P, Grammatico, P

المساهمون: De Simone, P, Bottillo, I, Valiante, M, Iorio, A, De Bernardo, C, Majore, S, D'Angelantonio, D, Valentini, T, Sperduti, I, Piemonte, P, Eibenschutz, L, Ferrari, A, Carbone, A, Buccini, P, Paiardini, A, Silipo, V, Frascione, P, Grammatico, P

مصطلحات موضوعية: familial melanoma, multiple primary melanoma, melanoma susceptibility gene, Adult, Aged, Cyclin-Dependent Kinase 4, Cyclin-Dependent Kinase Inhibitor p16, Female, Genetic Predisposition to Disease, Human, Italy, Male, Melanoma, Microphthalmia-Associated Transcription Factor, Middle Aged, Retrospective Studie, Shelterin Complex, Telomere-Binding Protein, Tumor Suppressor Protein, Ubiquitin Thiolesterase

Relation: info:eu-repo/semantics/altIdentifier/pmid/33322357; info:eu-repo/semantics/altIdentifier/wos/WOS:000602971200001; volume:21; issue:24; firstpage:1; lastpage:17; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11573/1473676; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097557593

الاتاحة: https://hdl.handle.net/11573/1473676
https://doi.org/10.3390/ijms21249432

المؤلفون: Andreotti, Virginia, Bisio, Alessandra, Bressac de Paillerets, Brigitte, Harland, Mark, Cabaret, Odile, Newton Bishop, Julia, Pastorino, Lorenza, Bruno, William, Bertorelli, Roberto, De Sanctis, Veronica, Provenzani, Alessandro, Menin, Chiara, Fronza, Gilberto, Queirolo, Paola, Spitale, Robert C, Bianchi Scarrà, Giovanna, Inga, Alberto, Ghiorzo, Paola

المساهمون: Andreotti, Virginia, Bisio, Alessandra, Bressac de Paillerets, Brigitte, Harland, Mark, Cabaret, Odile, Newton Bishop, Julia, Pastorino, Lorenza, Bruno, William, Bertorelli, Roberto, De Sanctis, Veronica, Provenzani, Alessandro, Menin, Chiara, Fronza, Gilberto, Queirolo, Paola, Spitale, Robert C, Bianchi Scarrà, Giovanna, Inga, Alberto, Ghiorzo, Paola

مصطلحات موضوعية: 5′ untranslated region (5′UTR), CDKN2A, germline mutation, melanoma susceptibility, polysomal imbalance, reporter assay, variants with unknown functional significance

Relation: info:eu-repo/semantics/altIdentifier/pmid/26581427; info:eu-repo/semantics/altIdentifier/wos/WOS:000370645600010; volume:29; issue:2; firstpage:210; lastpage:211; numberofpages:2; journal:PIGMENT CELL & MELANOMA RESEARCH; http://hdl.handle.net/11572/119322; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84958639922

الاتاحة: http://hdl.handle.net/11572/119322
https://doi.org/10.1111/pcmr.12444
https://onlinelibrary-wiley-com.ezp.biblio.unitn.it/doi/10.1111/pcmr.12444

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/figure/Diagram_of_the_germline_sequencing_analysis_and_variant_prioritization_strategy_showing_the_main_technical_processes_/19079446

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.g002

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/Targeted_NGS_validated_variants_/19079428

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s003

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/Probably_pathogenic_variants_algorithms_/19079434

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s005

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/TVC_X_GATK_variant_calling_/19079422

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s001

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/figure/Pedigrees_of_the_five_melanoma-prone_families_/19079443

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.g001

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/288_variants_prioritized_variants_/19079425

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s002

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/VarElect_analysis_/19079431

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s004

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/IPA_main_diseases_and_conditions_/19079437

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s006

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/Published_melanoma_candidate_genes_/19079440

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.s007

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/figure/Network_of_13_genes_harboring_rare_germline_variants_identified_in_melanoma-prone_patients_/19079449

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.g003

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/Types_of_rare_non-synonymous_heterozygous_variants_co-segregating_in_both_affected_relatives_of_the_five_melanoma-prone_families_/19079458

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.t003

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/Detected_genes_associated_with_the_phenotypes_of_interest_and_their_respective_rare_non-synonymous_variants_/19079464

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.t005

المؤلفون: Felipe Fidalgo (642532), Giovana Tardin Torrezan (9075146), Bianca Costa Soares de Sá (12009028), Bruna Durães de Figueiredo Barros (12009031), Luciana Facure Moredo (10689512), Renan Valieris (548359), Sandro J. de Souza (9578582), João Pereira Duprat (12009034), Ana Cristina Victorino Krepischi (5453723), Dirce Maria Carraro (6830156)

مصطلحات موضوعية: Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, variant pathogenicity prediction, new putative candidates, genetic predisposition accounts, 2 affected individuals, potential candidate genes, prone families negative, prone families contributing, cutaneous melanoma susceptibility, cutaneous melanoma predisposition, including 7 loss, div >< p, prone families, putative role, genetic etiology, affected relatives, several genes, penetrance genes, melanoma risk, melanoma cases, brazilian melanoma, 5 melanoma, wrn <

Relation: https://figshare.com/articles/dataset/Clinical_characteristics_of_melanoma_patients_/19079455

الاتاحة: https://doi.org/10.1371/journal.pone.0262419.t002