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(Sipple syndrome)
1,747 results
  • GeneReviews®: Multiple Endocrine Neoplasia Type 2 [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AEng CBOOK
  • Multiple endocrine neoplasia type 2 (MEN 2) includes the following phenotypes: MEN 2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN 2A), and MEN 2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B involve an increased risk for pheochromocytoma; MEN 2A involves an increased risk for parathyroid adeno…
  • RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma. [Journal Article]
    Thyroid 2019Qi XP, Jin BY, … Zhao JQ
  • CONCLUSIONS: This study demonstrates that the novel germline RET S409Y variant is likely pathogenic and is associated with lower penetrance of MTC than that for the C618Y and C634Y mutations. Individuals with S409Y should be managed using a personalized approach, and additionally, "at-risk" family members should be evaluated. Additional studies are needed to elucidate the correlation between the S409Y mutation and multiple endocrine neoplasia type 2-specific tumors.
  • Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience. [Journal Article]
    J Pediatr Endocrinol Metab 2019; 32(8):889-893Garcés Visier C, Espinoza Vega M, … Alonso Calderón JL
  • Background To describe the complications and long-term results in patients with multiple endocrine neoplasia type 2A (MEN 2A) syndrome in whom a prophylactic thyroidectomy was performed, in relation to the recommendations of the American Thyroid Association (ATA). Methods A retrospective study of 14 patients with MEN 2A thyroidectomized between 2000 and 2017. We reviewed demographic, clinical, an…
  • Surgical Management of Multiple Endocrine Neoplasia 1 and Multiple Endocrine Neoplasia 2. [Review]
    Surg Clin North Am 2019; 99(4):693-709Kiernan CM, Grubbs EG
  • This article summarizes the surgical management of tumors associated with multiple endocrine neoplasia 1 (MEN1) and multiple endocrine neoplasia 2 (MEN2) and includes discussion of the preoperative planning, the goals, and extent of surgery, as well as the intraoperative considerations and the management of recurrent disease.
  • Clinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma. [Journal Article]
    Ann Endocrinol (Paris) 2019; 80(3):187-190Elisei R, Bottici V, … Romei C
  • Medullary thyroid cancer (MTC) is a rare thyroid tumor whose prevalence is 3-5% among all thyroid tumors. The pathogenesis of MTC is mainly related to germline or somatic RET activating point mutations that are causative of hereditary and sporadic cases, respectively. Hereditary MTC can occur as multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial MTC (FMTC) that differ fo…
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