Human Genetic Diseases - D. Plaseska-Karanfilska (Intech, 2011) WW.pdf

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HUMAN GENETIC DISEASES
Edited by Dijana Plaseska-Karanfilska
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Human Genetic Diseases
Edited by Dijana Plaseska-Karanfilska
Published by InTech
Janeza Trdine 9, 51000 Rijeka, Croatia
Copyright © 2011 InTech
All chapters are Open Access articles distributed under the Creative Commons
Non Commercial Share Alike Attribution 3.0 license, which permits to copy,
distribute, transmit, and adapt the work in any medium, so long as the original
work is properly cited. After this work has been published by InTech, authors
have the right to republish it, in whole or part, in any publication of which they
are the author, and to make other personal use of the work. Any republication,
referencing or personal use of the work must explicitly identify the original source.
Statements and opinions expressed in the chapters are these of the individual contributors
and not necessarily those of the editors or publisher. No responsibility is accepted
for the accuracy of information contained in the published articles. The publisher
assumes no responsibility for any damage or injury to persons or property arising out
of the use of any materials, instructions, methods or ideas contained in the book.
Publishing Process Manager Davor Vidic
Technical Editor Teodora Smiljanic
Cover Designer Jan Hyrat
Image Copyright Booka, 2011. Used under license from Shutterstock.com
First published September, 2011
Printed in Croatia
A free online edition of this book is available at www.intechopen.com
Additional hard copies can be obtained from orders@intechweb.org
Human Genetic Diseases, Edited by Dijana Plaseska-Karanfilska
p. cm.
ISBN 978-953-307-936-3
free online editions of InTech
Books and Journals can be found at
www.intechopen.com
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Contents
Preface IX
Chapter 1
Signalling Pathways in Development
and Human Disease: A Drosophila Wing Perspective 1
Cristina Molnar, Martín Resnik-Docampo, María F. Organista,
Mercedes Martín, Covadonga F. Hevia and Jose F. de Celis
Chapter 2
The FGF Family in Humans, Mice, and Zebrafish:
Development, Physiology, and Pathophysiology
37
Sayaka Sasaki, Hiroya Ohta, Yoshiaki Nakajima,
Morichika Konishi, Ayumi Miyake and Nobuyuki Itoh
Chapter 3
Osteoclast Genetic Diseases 57
Andrea Del Fattore and Anna Teti
Chapter 4
MRE11A Gene Mutations Responsible
for the Rare Ataxia Telangiectasia-Like Disorder
79
Ghazi Alsbeih
Chapter 5
Neuronopathic Forms in
Subjects with Mutations in
Gene 91
Pilar Giraldo, Jose-Luis Capablo and Miguel Pocovi
GBA
Chapter 6
The Role of Gene Mutations Detection
in Defining the Spectrum
of ß – Thalassemia in Various Ethnic Regions 109
Fakher Rahim, Najmaldin Saki and Mohammad Ali Jalalai far
Chapter 7
CCL Chemokines Levels in Tear Fluid of
Patients with Cystic Fibrosis
121
Malgorzata Mrugacz
Chapter 8
The Genetic Makeup of Azoreans
Versus
Mainland Portugal Population 129
Cláudia Castelo Branco and Luisa Mota-Vieira
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