Terms: = Kidney tumors AND CDC73, HRPT2, 79577, ENSG00000134371, HPT-JT, Q6P1J9, FLJ23316, C1orf28
45 results:
1. Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of
Gheorghe AM; Sima OC; Florescu AF; Ciuche A; Nistor C; Sandru F; Carsote M
Int J Mol Sci; 2024 Feb; 25(4):. PubMed ID: 38396977
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2. Brown tumor due to primary hyperparathyroidism in a familial case: a case report.
Diao Z; Zhang J; Zhao J; Sun W; Pu Z
BMC Endocr Disord; 2023 Oct; 23(1):214. PubMed ID: 37807045
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3. Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
Tora R; Welch J; Sun J; Agarwal SK; Bell DA; Merino M; Weinstein LS; Simonds WF; Jha S
J Clin Endocrinol Metab; 2023 Nov; 108(12):3165-3177. PubMed ID: 37339334
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4. Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid tumors.
Jha S; Welch J; Tora R; Lack J; Warner A; Del Rivero J; Sadowski SM; Nilubol N; Schmidt LS; Linehan WM; Weinstein LS; Simonds WF; Agarwal SK
J Clin Endocrinol Metab; 2023 Sep; 108(10):2686-2698. PubMed ID: 36935552
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5. Rare duplication of the cdc73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Garrigues G; Batisse-Lignier M; Uhrhammer N; Privat M; Ponelle-Chachuat F; Kelly A; Gay-Bellile M; Viala S; Bidet Y; Bignon YJ; Cavaillé M
Mol Genet Genomic Med; 2023 May; 11(5):e2133. PubMed ID: 36639964
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6. A two-generation hyperparathyroidism-jaw tumor (hpt-jt) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.
Yang D; Zheng J; Tang F; He Q; Huang H; Zhou P
Diagn Pathol; 2022 Sep; 17(1):71. PubMed ID: 36153594
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7. A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of cdc73: clinical and molecular features.
Le Collen L; Barraud S; Braconnier A; Coppin L; Zachar D; Boulagnon C; Deguelte S; Souchon PF; Spodenkiewicz M; Poirsier C; Aubert S; Odou MF; Delemer B
Endocrine; 2021 Sep; 73(3):693-701. PubMed ID: 33999366
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8. Familial Hyperparathyroidism.
Blau JE; Simonds WF
Front Endocrinol (Lausanne); 2021; 12():623667. PubMed ID: 33716975
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9. Genotype of cdc73 germline mutation determines risk of parathyroid cancer.
Li Y; Zhang J; Adikaram PR; Welch J; Guan B; Weinstein LS; Chen H; Simonds WF
Endocr Relat Cancer; 2020 Sep; 27(9):483-494. PubMed ID: 32590342
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10. Long-term remission of disseminated parathyroid cancer following immunotherapy.
Sarquis M; Marx SJ; Beckers A; Bradwell AR; Simonds WF; Bicalho MAC; Daly AF; Betea D; Friedman E; De Marco L
Endocrine; 2020 Jan; 67(1):204-208. PubMed ID: 31782130
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11. Familial kidney Cancer: Implications of New Syndromes and Molecular Insights.
Carlo MI; Hakimi AA; Stewart GD; Bratslavsky G; Brugarolas J; Chen YB; Linehan WM; Maher ER; Merino MJ; Offit K; Reuter VE; Shuch B; Coleman JA
Eur Urol; 2019 Dec; 76(6):754-764. PubMed ID: 31326218
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12. Familial and Hereditary Forms of Primary Hyperparathyroidism.
Cetani F; Saponaro F; Borsari S; Marcocci C
Front Horm Res; 2019; 51():40-51. PubMed ID: 30641519
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13. Parathyroid carcinoma.
Salcuni AS; Cetani F; Guarnieri V; Nicastro V; Romagnoli E; de Martino D; Scillitani A; Cole DEC
Best Pract Res Clin Endocrinol Metab; 2018 Dec; 32(6):877-889. PubMed ID: 30551989
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14. cdc73 Germline Mutation in a Family With Mixed Epithelial and Stromal tumors.
Vocke CD; Ricketts CJ; Ball MW; Schmidt LS; Metwalli AR; Middelton LA; Killian JK; Khan J; Meltzer PS; Simonds WF; Merino MJ; Linehan WM
Urology; 2019 Feb; 124():91-97. PubMed ID: 30452964
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15. Morphological clues to the appropriate recognition of hereditary renal neoplasms.
Moch H; Ohashi R; Gandhi JS; Amin MB
Semin Diagn Pathol; 2018 May; 35(3):184-192. PubMed ID: 29454577
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16. Genetics of Hyperparathyroidism, Including Parathyroid Cancer.
Simonds WF
Endocrinol Metab Clin North Am; 2017 Jun; 46(2):405-418. PubMed ID: 28476229
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17. Endocrine neoplasms in familial syndromes of hyperparathyroidism.
Li Y; Simonds WF
Endocr Relat Cancer; 2016 Jun; 23(6):R229-47. PubMed ID: 27207564
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18. Hyperparathyroidism-jaw tumor syndrome: Results of operative management.
Mehta A; Patel D; Rosenberg A; Boufraqech M; Ellis RJ; Nilubol N; Quezado MM; Marx SJ; Simonds WF; Kebebew E
Surgery; 2014 Dec; 156(6):1315-24; discussion 1324-5. PubMed ID: 25444225
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19. [cdc73 gene mutation and parafibromin expression status of parathyroid carcinoma in Chinese].
Kong J; Wang O; Nie M; Shi J; Jiang Y; Li M; Xia WB; Meng XW; Xing XP
Zhonghua Yi Xue Za Zhi; 2013 Nov; 93(42):3364-8. PubMed ID: 24418033
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20. Expression of parafibromin in major renal cell tumors.
Cui C; Lal P; Master S; Ma Y; Baradet T; Bing Z
Eur J Histochem; 2012 Oct; 56(4):e39. PubMed ID: 23361235
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