Clinical impact of molecular diagnostics in endocrinology. Polymorphisms, mutations and DNA technologies

Hormone Research

Volumn 58, Issue SUPPL. 3, 2002, Pages 7-15

  Höppner, Wolfgang ^a  

^a UNIVERSITY OF HAMBURG   (Germany)

Author keywords

Adrenogenital syndrome; Endocrine tumors; Molecular diagnostics; Molecular genetics; Multiple endocrine neoplasia; Mutations

Indexed keywords

DEXAMETHASONE; FOLLITROPIN; INSULIN RECEPTOR; PLASMINOGEN ACTIVATOR INHIBITOR 2; PROTHROMBIN; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE; TUMOR NECROSIS FACTOR ALPHA; DNA;

ADRENAL HYPERPLASIA; ANEUPLOIDY; CHORION VILLUS; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; DIABETES MELLITUS; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; ENDOCRINOLOGY; GENE DELETION; GENE INSERTION; GENE TRANSLOCATION; HEALTH CARE SYSTEM; HUMAN; HYPERANDROGENISM; OSTEOPOROSIS; OVARY POLYCYSTIC DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT ABORTION; REVIEW; SEQUENCE ANALYSIS; SEX DIFFERENTIATION; SINGLE NUCLEOTIDE POLYMORPHISM; SIPPLE SYNDROME; STEROID 21 MONOOXYGENASE DEFICIENCY; SUBFERTILITY; TECHNOLOGY; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY; VIRILIZATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETICS; MUTATION;

DNA; ENDOCRINOLOGY; GENETIC DISEASES, INBORN; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; POLYMORPHISM, GENETIC;

EID: 0036436779     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (7)

1. Buetow KH, Edmonson M, MacDonald R, et al: High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time of flight mass spectrometry. Proc Natl Acad Sci USA 2001;98:581-584.
2. Cargill M, Altshuler D, Ireland J, et al: Characterization of single nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;22:231-238.
3. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
4. Ponder BAJ: Multiple endocrine neoplasia type 2; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, Ed 8. New York, McGraw-Hill, 2001, pp 931-942.
5. Ritter MM, Hoeppner W: Multiple endocrine neoplasie typ 2; in Ganten D, Ruckpaul K (eds): Molekularmedizinische Grundlagen von Hereditären Tumorerkrankungen. Berlin, Springer, 2001.
6. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Höppner W: A new hot spot for mutations in the RET protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 1998;83:770-774.
7. Brandi ML, Gagel FR, Angeli A, et al: Consensus: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001;86:5658-5671.