Genetic disorders in the growth hormone-IGF-I axis
Walenkamp, M.J.E.
Citation
Walenkamp, M. J. E. (2007, November 8). Genetic disorders in the growth hormone-IGF-I
axis. Retrieved from https://hdl.handle.net/1887/12422
Version: Corrected Publisher’s Version
License: Licence agreement concerning inclusion of doctoral thesis in the
Institutional Repository of the University of Leiden
Downloaded from: https://hdl.handle.net/1887/12422
Note: To cite this publication please use the final published version (if applicable).
Genetic Disorders
in the Growth Hormone – IGF-I Axis
Printed by: Pasmans Offsetdrukkerij BV, Den Haag
Cover adapted from design by Tercica Inc. (Brisbane, CA, USA), reproduced with permission
For publication of this thesis financial support from Novo Nordisk Farma B.V., Pfizer B.V.
Ferring geneesmiddelen B.V., Ipsen Farmaceutica B.V. and Eli Lilly Nederland B.V. is grate- fully acknowledged.
© 2007 M.J.E. Walenkamp
Genetic Disorders
in the Growth Hormone – IGF-I Axis
Proefschrift
ter verkrijging van
de graad van Doctor aan de Universiteit Leiden, op gezag van Rector Magnificus prof.mr. P.F. van der Heijden,
volgens besluit van het College voor Promoties te verdedigen op donderdag 8 november 2007
klokke 16.15 uur
door
Maria Josephina Elisabeth Walenkamp
geboren te Haarlem in 1966
Promotiecommissie
Promotor Prof. dr. J.M. Wit
Copromotores Dr. A.M. Pereira Dr. M. Karperien
Referent Dr. C. Camacho-Hübner (University of London) Overige leden Prof. dr. S.L.S. Drop (Erasmus Universiteit Rotterdam)
Prof. dr. J.A.Romijn
If you can look into the seeds of time,
and say which grain will grow and which will not…..
William Shakespeare, Macbeth, Act 1 Scene 3
Aan mijn ouders,
Xavier, Fleur en Emilie
Table of contents
Chapter 1 General introduction
Chapter 2 Genetic disorders in the Growth Hormone – Insulin-like Growth Factor-I axis.
HormoneResearch 2006;66:221-230
Chapter 3 Large height gain by growth hormone therapy in combi- nation with GnRH analog in two pubertal sibs with a GH- releasing hormone receptor mutation.
Submitted
Chapter 4 Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
The Journal of Clinical Endocrinology and Metabolism 2006; 91(9): 3482-3485
Chapter 5 Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
European Journal of Endocrinology 2007;156(2):1-12
Chapter 6 Homozygous and heterozygous expression of a novel Insulin-like Growth Factor-I mutation.
The Journal of Endocrinology and Metabolism 2005;90(5):2855-2864
Chapter 7 Structural and functional characteristics of the Val44Met Insulin-like Growth Factor-I missense mutation: correlation with effects on growth and development.
Molecular Endocrinology 2005;19(3):711-721
Chapter 8 A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the Insulin-like Growth Factor I receptor.
The Journal of Endocrinology and Metabolism 2006;91(8):3062-3070
9 21
39
51
63
85
109
141
haploinsufficiency of the IGF-I receptor due to terminal 15q26.2->qter deletion.
Submitted
Chapter 10 General discussion
Genetic disorders in the GH-IGF-I axis in mouse and man.
European Journal of Endocrinology 2007;157(suppl 1):S15-S26
Chapter 11 Summary Chapter 12 Samenvatting
Curriculum Vitae List of publications
179
209 215
223 225
