THE JOURNAL OF ENDOCRINE GENETICS

VOLUME 1,  NO. 3 (2000)

Table of Contents

Letter from the Editors ... 113

 

REVIEW

Prader-Willi and Angelman Syndromes: Diagnostic Approach

D. Abeliovich, Israel ... 115

 

ORIGINAL CONTRIBUTIONS

Arg183His, a New Mutational “Hot-Spot” in the Growth Hormone Gene

M.P. Wajnrajch, J.M. Gertner, P.E. Mullis, J. Deladoëy, J.D. Cogan, S. Lekhakula, S. Kim, P.S. Dannies, P. Saenger,
T. Moshang, J.A. Phillips III and R.L. Leibel, USA, Switzerland and Thailand ... 1
25

 

Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism

H. Kentrup, J. Altmüller, S. Karhausen, B.P. Hauffa, R. Pfäffle and G. Heimann, Germany ... 137

 

De novo RET Mutation Positive Multiple Endocrine Neoplasia Type 2B and Hereditary Nonpolyposis Colorectal Cancer Syndrome Occurring in the Same Family: Parent-of-Origin and Mismatch Repair

H. Hampel, C.M. Allen, S.D. Chernausek, T.W. Prior and C. Eng, USA and UK ........143

 

Bromocriptine Resistant Prolactinomas and Non-Functioning Pituitary Tumors: Somatic Mutational Analyses of the Dopamine Type 2 Receptor and the MEN1 Gene

M. Mark, E.F. Adams, A.-M. Morelli, O. Jakobovitz-Picard, M. Buchfelder, R.M.W. Hofstra, I.M. Mulder, L. DeMarco, M.L. Brandi and E. Friedman, Israel, Italy, Germany, The Netherlands and Brazil ...149

 

Genetic Studies in Familial Aldosteronism Not Suppressible by Dexamethasone

F. Fallo, F. Veglio, P. Mulatero, N. Sonino, C. Pilon, L. Barzon, F. Trimarchi, M. Boscaro and S. Benvenga, Italy .....159

 

Recombination Between the Sodium Channel SCN8A and the Allgrove Syndrome Gene in a Puerto Rican Kindred

L.K. Sprunger, M.H. Meisler and C.A. Stratakis, USA ... 165

 

BOOK REVIEWS ...171

 

CALENDAR ...175

 

 

 

 

 

 

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