THE JOURNAL OF ENDOCRINE GENETICS

VOLUME 2,  NO. 2 (2001)

Table of Contents

 

Letter from the Editors ....... 75

 

REVIEW

Neonatal Hemochromatosis - Immunological, Metabolic or Genetic?

C. Sher, Israel  ......... 77

 

ORIGINAL CONTRIBUTIONS

Molecular, Cytogenetic, Hormonal and Clinical Characterization of Ten XX Males Including Genetic Counseling

G.B. Castiñeyra, S. Copelli and C. Perandones, Argentina ...  83

 

Familial Isolated Primary Hyperparathyroidism in a Large Georgian-Jewish Kindred: Genetic Studies

D. Olchovsky, M.R. Hobbs, E. Pras, I. Shimon, J. Silver, L. Irmin and E. Friedman, Israel and USA     .......  91

 

A Novel Frameshift Mutation of the DAX-1 Gene in a Boy with X-Linked Adrenal Hypoplasia Congenita and No Early Impairment of the Hypothalamus-Pituitary-Gonadal Axis

M. Wasniewska, F. De Luca, F. Lombardo, M.F. Messina, M. Valenzise, A. Lasco and T. Arrigo, Italy ........  99

 

A Novel AVP-Neurophysin Gene Mutation in Familial Neurohypophyseal Diabetes Insipidus Presenting with Nocturnal Enuresis

N.Q. Goking, B.S. Chertow, G.L. Robertson, S. Rittig, C. Siggaard and E.B. Pedersen, USA and Denmark ........  105

 

Detection of AIRE Mutation in Atypical Autoimmune Polyglandular Syndrome Type 1 (APS1)

I. Guttmann-Bauman, J.-D. Shi, C.-Y. Wang and J.-X. She, USA .........  115

 

BOOK REVIEWS ....  123

CALENDAR ......... 127

 

 

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