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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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