THE JOURNAL OF ENDOCRINE GENETICS

VOLUME 1,  NO. 1 (1999)

Table of Contents

Letter from the Editors ........1

 

REVIEW

The Human Genome Project, Positional Cloning of Inherited Disease Genes, and Multiple Endocrine Neoplasia Type 1 

S.C. Chandrasekharappa,  USA ............  3

 

ORIGINAL CONTRIBUTIONS

The “Little People” of the Island of Krk - Revisited. Etiology of Hypopituitarism Revealed

C. Kržišnik, Z. Kolacio, T. Battelino, M. Brown, J.S. Parks and Z. Laron, Slovenia, Croatia, USA and Israel ........  9

 

Further Delineation of Spondyloepimetaphyseal Dysplasia Shohat Type, and a Review of the Literature

L. Basel-Vanagaite and M. Shohat, Israel ........ 21

 

Genetic Analyses of a Family with Familial Medullary and Papillary Thyroid Carcinoma

M.D. Kogon, J.S. Green, A. Kwan, C. Morris-Larkin, S. Kaiser, S.M. Myers and L.M. Mulligan, Canada ..........  27

 

Neuromas in Multiple Endocrine Neoplasia Type 2A with a RET Codon 611 Mutation

P. Vestergaard, J.P. Kroustrup, H. Rønne, C. Eng and P. Laurberg, Denmark, USA and UK ...........  33

 

Germline V804M Mutation in the RET Proto-oncogene in Two Apparently Sporadic Cases of MTC Presenting in the Seventh Decade of Life

K.E. Shannon, O. Gimm, R. Hinze, H. Dralle and C. Eng, USA, Germany and UK ..........................  39

 

PATIENT REPORTS

Thyroid Abnormalities in Peutz-Jeghers Syndrome: Report of a New Observation and Review of the Literature

A. Pathomvanich, C.C. Koch and C.A. Stratakis, USA .................  47

 

Non-Classical Congenital Adrenal Hyperplasia Phenotype in a Female Newborn Heterozygous for the 21-Hydroxylase Gene Mutation

L. Guazzarotti, H. Blanché, L. Dubbini, C. Bellanné-Chantelot and E. Bartolotta, Italy and France ....  51

 

BOOK REVIEWS ......  55

 

CALENDAR...... 58

 

 

 

 

 

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