共 50 条
- [1] Novel germline variants in cutaneous and uveal melanoma familiesJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2017, 31 : 46 - 46Hayward, N.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaPritchard, A.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaJohansson, P.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaAoude, L.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia论文数: 引用数: h-index:机构:Hoiom, V.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Stockholm, Sweden QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaWadt, K.论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Hosp, Copenhagen, Denmark QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia
- [2] Characterization of rare germline variants in somatically mutated melanoma genes in melanoma-prone families.CANCER RESEARCH, 2013, 73 (08)Yang, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USABurke, Laura论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USAJacobs, Kevin论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USACullen, Michael论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USABoland, Joseph论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USABurdett, Laurie论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USAMalasky, Michael论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USARotunno, Melissa论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USAYeager, Meredith论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USAChanock, Stephen论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USATucker, Margaret论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USAGoldstein, Alisa论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, DHHS, Bethesda, MD 20892 USA NCI, NIH, DHHS, Bethesda, MD 20892 USA
- [3] Germline variants in CDKN2A wild-type melanoma prone familiesCANCER RESEARCH, 2024, 84 (06)Knappskog, Stian论文数: 0 引用数: 0 h-index: 0Iversen, Gjertrud T.论文数: 0 引用数: 0 h-index: 0Loeng, Marie论文数: 0 引用数: 0 h-index: 0Holth, Amalie L.论文数: 0 引用数: 0 h-index: 0Lonning, Per E.论文数: 0 引用数: 0 h-index: 0Geisler, Jurgen论文数: 0 引用数: 0 h-index: 0
- [4] Germline variants in CDKN2A wild-type melanoma prone familiesMOLECULAR ONCOLOGY, 2025,Iversen, Gjertrud T.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, Norway Haukeland Hosp, Dept Oncol, Bergen, Norway Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, NorwayLoeng, Marie论文数: 0 引用数: 0 h-index: 0机构: Akershus Univ Hosp, Dept Oncol, Lorenskog, Norway Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, NorwayHolth, Amalie Lund论文数: 0 引用数: 0 h-index: 0机构: Akershus Univ Hosp, Dept Oncol, Lorenskog, Norway Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, NorwayLonning, Per E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, Norway Haukeland Hosp, Dept Oncol, Bergen, Norway Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, NorwayGeisler, Jurgen论文数: 0 引用数: 0 h-index: 0机构: Akershus Univ Hosp, Dept Oncol, Lorenskog, Norway Univ Oslo, Inst Clin Med, Oslo, Norway Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, NorwayKnappskog, Stian论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, Norway Haukeland Hosp, Dept Oncol, Bergen, Norway Univ Bergen, KG Jebsen Ctr Genome Directed Canc Therapy, Dept Clin Sci, N-5020 Bergen, Norway
- [5] Germline Variants in Childhood Cutaneous MelanomaJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (08) : 1610 - 1613Johansson, Peter A.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaPalmer, Jane M.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaHamilton, Hayley R.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaWhiteman, David C.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaPritchard, Antonia L.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia Univ Highlands & Isl, Genet & Immunol Grp, Inverness, Scotland QIMR Berghofer Med Res Inst, Brisbane, Qld, AustraliaHayward, Nicholas K.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia
- [6] Functional characterization of novel germline TP53 variants in Swedish familiesCLINICAL GENETICS, 2019, 96 (03) : 216 - 225Kharaziha, Pedram论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenCeder, Sophia论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenAxell, Olga论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenKrall, Moritz论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenFotouhi, Omid论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenBohm, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenLain, Sonia论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenBorg, Ake论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Div Oncol Pathol, Lund, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenLarsson, Catharina论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenWiman, Klas G.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenTham, Emma论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, SwedenBajalica-Lagercrantz, Svetlana论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, BioClinicum J6-20, SE-17176 Stockholm, Sweden
- [7] Germline Variants of Prostate Cancer in Japanese FamiliesPLOS ONE, 2016, 11 (10):Hayano, Takahide论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, JapanMatsui, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Urol, Maebashi, Gunma, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, JapanNakaoka, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, JapanOhtake, Nobuaki论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Urol, Maebashi, Gunma, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, JapanHosomichi, Kazuyoshi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Bioinformat & Genom, Kanazawa, Ishikawa 9201192, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, JapanSuzuki, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Urol, Maebashi, Gunma, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, JapanInoue, Ituro论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, Japan Natl Inst Genet, Div Human Genet, Mishima, Shizuoka, Japan
- [8] Germline pathogenic variants in melanoma patients.CANCER RESEARCH, 2022, 82 (12)Beitsch, Peter论文数: 0 引用数: 0 h-index: 0机构: Dallas Surg, Dallas, TX USA Dallas Surg, Dallas, TX USAWernecke, Chloe论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Dallas Surg, Dallas, TX USABontempo, Kelly论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Dallas Surg, Dallas, TX USABentley, Brenna论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Dallas Surg, Dallas, TX USAWhitworth, Pat论文数: 0 引用数: 0 h-index: 0机构: Nashville Breast Ctr, Nashville, TN USA Dallas Surg, Dallas, TX USAPatel, Rakesh论文数: 0 引用数: 0 h-index: 0机构: Good Samaritan, Los Gatos, CA USA Dallas Surg, Dallas, TX USA
- [9] Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variantsJNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2024, 116 (04): : 580 - 587Villy, Marie-Charlotte论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Univ Paris Cite, Paris, France Inst Curie, Serv Genet, Unite Genet Clin, 25 Rue Ulm, F-75005 Paris, France Inst Curie, Dept Genet, Paris, FranceLe Ven, Anais论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France DNA Repair & Uveal Melanoma DRUM, Inserm U830, Paris, France Inst Curie, Dept Genet, Paris, FranceLe Mentec, Marine论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Genet, Paris, FranceMasliah-Planchon, Julien论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Genet, Paris, FranceHouy, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Paris Sci & Lettres Res Univ, Paris, France DNA Repair & Uveal Melanoma DRUM, Inserm U830, Paris, France Inst Curie, Dept Genet, Paris, FranceBieche, Ivan论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Univ Paris Cite, Paris, France Inst Curie, Dept Genet, Paris, FranceVacher, Sophie论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Genet, Paris, FranceVincent-Salomon, Anne论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Genet, Paris, FranceDubois d'Enghien, Catherine论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Inst Curie, Dept Genet, Paris, FranceSchwartz, Mathias论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Genet, Paris, FrancePiperno-Neumann, Sophie论文数: 0 引用数: 0 h-index: 0机构: Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Med Oncol, Paris, France Inst Curie, Dept Genet, Paris, FranceMatet, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Inst Curie, Dept Ocular Oncol, Paris, France Inst Curie, Dept Genet, Paris, FranceMalaise, Denis论文数: 0 引用数: 0 h-index: 0机构: Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Ocular Oncol, Paris, France Inst Curie, Dept Genet, Paris, FranceBubien, Virginie论文数: 0 引用数: 0 h-index: 0机构: Inst Bergonie, Dept Genet, Bordeaux, France Inst Curie, Dept Genet, Paris, FranceLortholary, Alain论文数: 0 引用数: 0 h-index: 0机构: GINECO Hop Prive Confluent, Dept Med Oncol, Nantes, France Inst Curie, Dept Genet, Paris, FranceAit Omar, Amal论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, FranceCavaille, Mathias论文数: 0 引用数: 0 h-index: 0机构: Univ Clermont Auvergne, Ctr Jean Perrin, Dept Oncogenet, INSERM,Imagerie Mol & Strategies Theranost U1240, Clermont Ferrand, France Inst Curie, Dept Genet, Paris, FranceStoppa-Lyonnet, Dominique论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Univ Paris Cite, Paris, France DNA Repair & Uveal Melanoma DRUM, Inserm U830, Paris, France Inst Curie, Dept Genet, Paris, FranceCassoux, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Inst Curie, Dept Ocular Oncol, Paris, France Inst Curie, Dept Genet, Paris, FranceStern, Marc-Henri论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France DNA Repair & Uveal Melanoma DRUM, Inserm U830, Paris, France Inst Curie, Dept Genet, Paris, FranceRodrigues, Manuel论文数: 0 引用数: 0 h-index: 0机构: Paris Sci & Lettres Res Univ, Paris, France DNA Repair & Uveal Melanoma DRUM, Inserm U830, Paris, France Inst Curie, Dept Med Oncol, Paris, France Inst Curie, Dept Genet, Paris, FranceGolmard, Lisa论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France Inst Curie, Dept Genet, Paris, FranceColas, Chrystelle论文数: 0 引用数: 0 h-index: 0机构: Inst Curie, Dept Genet, Paris, France Paris Sci & Lettres Res Univ, Paris, France DNA Repair & Uveal Melanoma DRUM, Inserm U830, Paris, France Inst Curie, Dept Genet, Paris, France
- [10] Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature ReviewJOURNAL OF CLINICAL LABORATORY ANALYSIS, 2024, 38 (11-12)论文数: 引用数: h-index:机构:Gao, Haiming论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R China China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R ChinaZhang, Lu论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R China China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R ChinaZhao, Yunjing论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Shengjing Hosp, Dept Dev Pediat, Shenyang, Peoples R China China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R ChinaQiu, Chuang论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Shengjing Hosp, Dept Orthoped, Shenyang, Peoples R China China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R ChinaLiu, Xiaoliang论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R China China Med Univ, Shengjing Hosp, Dept Clin Genet, Shenyang, Peoples R China