Mutation screening of RET proto-oncogene in a family with medullary thyroid carcinoma, marfanoid habitus and pheochromocytoma; from clinically MEN2B to genetically MEN2A syndrome

Endocrine

Volumn 42, Issue 1, 2012, Pages 220-221

  Hasani Ranjbar, Shirin ^a   Amoli, Mahsa M ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENALECTOMY; ADULT; ASPIRATION BIOPSY; CLINICAL ARTICLE; CODON; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; LETTER; MALE; MALFORMATION SYNDROME; MARFANOID HABITUS; NEUROFIBROMATOSIS; ONCOGENE RET; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SIPPLE SYNDROME; THYROID MEDULLARY CARCINOMA; THYROID NODULE; THYROIDECTOMY; ASYMPTOMATIC DISEASE; CHEMISTRY; CIRCADIAN RHYTHM; CUSHING SYNDROME; ENDOCRINE SYSTEM EXAMINATION; EVALUATION; IMMUNOASSAY; LUMINESCENCE; METABOLISM; PHYSIOLOGY; PROFESSIONAL PRACTICE; REFERENCE VALUE; SALIVA; SENSITIVITY AND SPECIFICITY; STANDARD; UTILIZATION REVIEW;

HYDROCORTISONE;

ASYMPTOMATIC DISEASES; CIRCADIAN RHYTHM; CUSHING SYNDROME; DIAGNOSTIC TECHNIQUES, ENDOCRINE; HUMANS; HYDROCORTISONE; IMMUNOASSAY; LUMINESCENT MEASUREMENTS; PROFESSIONAL PRACTICE; REFERENCE STANDARDS; REFERENCE VALUES; SALIVA; SENSITIVITY AND SPECIFICITY;

EID: 84865036475     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-012-9610-6     Document Type: Letter

References (3)

1. L.M. Mulligan, C. Eng, C.S. Healey, D. Clayton, J.B. Kwok, E. Gardner, M.A. Ponder, A. Frilling, C.E. Jackson, H. Lehnert, Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat. Genet. 6(1), 70 (1994)
2. S. Mastroianno, M. Torlontano, A. Scillitani, L. D'Aloiso, A. Verrienti, N. Bonfitto, A. De Bonis, L. D'Agruma, L.A. Muscarella, V. Guarnieri, F. Dicembrino, M. Maranghi, C. Durante, S. Filetti, Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family. Endocrine 40(3), 481-485 (2011)
3. S. Hasani-Ranjbar, M.M. Amoli, A. Ebrahim-Habibi, V. Haghpanah, M. Hejazi, A. Soltani, B. Larijani, Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease. Fam Cancer 8(4), 465-471 (2009)