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familial multinodular goiter相关文献:
Overview of thyroid physiology: an essential for understanding familial euthyroid multinodular goiter.
Martinez JH, Palermo C, González FF, Laboy I.
Bol Asoc Med P R. 2013;105(2):68-71.
PMID:23882995
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD.
J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.
PMID:31805011
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP.
Mod Pathol. 2022 Jan;35(1):4-22. doi: 10.1038/s41379-021-00905-8. Epub 2021 Oct 1.
PMID:34599283
DICER1 Tumor Predisposition.
Schultz KAP, Stewart DR, Kamihara J, Bauer AJ, Merideth MA, Stratton P, Huryn LA, Harris AK, Doros L, Field A, Carr AG, Dehner LP, Messinger Y, Hill DA.
2014 Apr 24 [updated 2020 Apr 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:24761742
DICER1 Syndrome.
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J.
Klin Onkol. 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123.
PMID:31409088
Nodule-specific NRF2-targeted upregulation in patients with KEAP1 mutations and familial nontoxic multinodular goiter.
Nishihara E, Fukata S, Hirokawa M, Higuchi M, Ito M, Nishikawa M, Miyauchi A, Matsuse M, Mitsutake N, Ito Y, Hishinuma A, Kogai T, Akamizu T.
J Clin Endocrinol Metab. 2024 Oct 7:dgae699. doi: 10.1210/clinem/dgae699. Online ahead of print.
PMID:39373520
Hereditary and familial thyroid tumours.
Guilmette J, Nosé V.
Histopathology. 2018 Jan;72(1):70-81. doi: 10.1111/his.13373.
PMID:29239041
Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family.
Liao S, Song W, Liu Y, Deng S, Liang Y, Tang Z, Huang J, Dong D, Xu G.
BMC Endocr Disord. 2013 Oct 21;13:48. doi: 10.1186/1472-6823-13-48.
PMID:24144365
Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.
Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, Mangion J, Hamoudi R, Rosenblatt J, Buu P, Sun S, Stoffer SS, Goldgar DE, Romeo G, Houlston RS, Narod SA, Stratton MR, Foulkes WD.
Am J Hum Genet. 1997 Nov;61(5):1123-30. doi: 10.1086/301610.
PMID:9345104
Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.
Cabral Miranda LJ, Danilovic DLS, Vanderlei FAB, Tavares MR, Neto NL, Asato de Camargo RY, Marui S.
Arch Endocrinol Metab. 2024 Feb 8;68:e230030. doi: 10.20945/2359-4292-2023-0030.
PMID:38330293
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