Human Genetic Diseases

preface......Page 1
1_Signalling Pathways in Development and Human Disease: A Drosophila Wing Perspective......Page 13
2_The FGF Family in Humans, Mice, and\rZebrafish: Development, Physiology,\rand Pathophysiology......Page 49
3 Osteoclast Genetic Diseases......Page 69
4 MRE11A Gene Mutations Responsible for the\rRare Ataxia Telangiectasia-Like Disorder......Page 91
5 Neuronopathic Forms in Subjects with\rMutations in GBA Gene......Page 103
6 The Role of Gene Mutations Detection\rin Defining the Spectrum of\rß – Thalassemia in Various Ethnic Regions......Page 121
7 CCL Chemokines Levels in\rTear Fluid of Patients with\rCystic Fibrosis......Page 133
8 The Genetic Makeup of Azoreans Versus\rMainland Portugal Population......Page 141
9 Double-Factor Preimplantation Genetic\rDiagnosis: Preliminary Results......Page 173
10 Preimplantation HLA Typing......Page 191
11 The Contribution of Molecular Techniques in\rPrenatal Diagnosis and Post mortem Fetus with\rMultiple Malformation......Page 203
12 Detection of the Most Common Genetic Causes\rof Male Infertility by Quantitative Fluorescent\r(QF)-PCR Analysis......Page 215
13 High-Throughput Screening for\rHighly Functional RNA-Trans-Splicing\rMolecules: Correction of Plectin in\rEpidermolysis Bullosa Simplex......Page 235
14 Nanomedicine and Drug Delivery Strategies for\rTreatment of Genetic Diseases......Page 253
15 Consanguinity and Its Effect on Morbidity\rand Congenital Disorders Among\rArabs in Israel......Page 279
16 Genethical Aspects of Research and Medical\rServices in Islamic Countries......Page 289