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.
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.
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.
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. 2025 Mar 17;110(4):973-982. doi: 10.1210/clinem/dgae699.
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.
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M.
JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910.
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.
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.
Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G, Foulkes WD.
Eur J Endocrinol. 2018 Feb;178(2):K11-K19. doi: 10.1530/EJE-17-0904. Epub 2017 Nov 29.
Multinodular goiter in children.
Al-Fifi S, Rodd C.
J Pediatr Endocrinol Metab. 2001 Jun;14(6):749-56. doi: 10.1515/jpem.2001.14.6.749.
The neoplastic goitre.
Nixon IJ, Simo R.
Curr Opin Otolaryngol Head Neck Surg. 2013 Apr;21(2):143-9. doi: 10.1097/MOO.0b013e32835cec37.
