Multiple endocrine neoplasia type 2: A review
JS Mathiesen, G Effraimidis, M Rossing… - Seminars in cancer …, 2022 - Elsevier
Multiple endocrine neoplasias are rare hereditary syndromes some of them with malignant
potential. Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary …
potential. Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary …
Familial thyroid cancer
O Alsanea, OH Clark - Current opinion in oncology, 2001 - journals.lww.com
Familial thyroid cancer can arise from parafollicular cells (familial medullary thyroid cancer)
or from follicular cells (familial nonmedullary thyroid cancer). Familial medullary thyroid …
or from follicular cells (familial nonmedullary thyroid cancer). Familial medullary thyroid …
Germ-Line and Acquired Mutations of INI1 in Atypical Teratoid and Rhabdoid Tumors
JA Biegel, JY Zhou, LB Rorke, C Stenstrom… - Cancer research, 1999 - AACR
We examined 18 atypical teratoid and rhabdoid tumors of the brain and 7 renal and 4
extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene …
extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene …
A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer
A novel putative tumor suppressor gene and member of the NF2/ERM/4.1 superfamily was
isolated using Differential Display PCR (DDPCR) on primary lung tumors. When …
isolated using Differential Display PCR (DDPCR) on primary lung tumors. When …
Nanoliter multiplex PCR arrays on a SlipChip
The SlipChip platform was tested to perform high-throughput nanoliter multiplex PCR. The
advantages of using the SlipChip platform for multiplex PCR include the ability to preload …
advantages of using the SlipChip platform for multiplex PCR include the ability to preload …
Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients
M Wiench, Z Wygoda, E Gubala, J Wloch… - Journal of Clinical …, 2001 - ascopubs.org
PURPOSE: The study was undertaken to evaluate the frequency of inherited medullary
thyroid carcinoma (MTC) among patients with apparent sporadic disease. A stepwise …
thyroid carcinoma (MTC) among patients with apparent sporadic disease. A stepwise …
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ ATG) mutation
GL Feldman, MW Edmonds, PJ Ainsworth… - Surgery, 2000 - Elsevier
Background: Multiple endocrine neoplasia type 2 (MEN 2) and familial medullary thyroid
carcinoma (FMTC) are autosomal dominantly inherited cancer syndromes that predispose to …
carcinoma (FMTC) are autosomal dominantly inherited cancer syndromes that predispose to …
Multiple endocrine neoplasia type 2B—genetic basis and clinical expression
NC Lee, JA Norton - Surgical Oncology, 2000 - Elsevier
Multiple endocrine neoplasia (MEN) type 2B is a heritable endocrine disorder characterized
by medullary thyroid carcinoma (MTC), pheochromocytoma, multiple mucosal neuromas …
by medullary thyroid carcinoma (MTC), pheochromocytoma, multiple mucosal neuromas …
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)
S Bohlega, M Kambouris, M Shahid, M Al Homsi… - Neurology, 2000 - AAN Enterprises
Article abstract The authors describe four siblings from consanguineous parents who
presented with oculomotor deficit in early childhood characterized by impaired volitional …
presented with oculomotor deficit in early childhood characterized by impaired volitional …
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example
The increased frequency of rare autosomal recessive conditions in genetically isolated
populations is a well‐established phenomenon. This genetic isolation is invoked as an …
populations is a well‐established phenomenon. This genetic isolation is invoked as an …