GENETICS

By B. MIMII

CONTENTS CHAPTER CRANIOSYNOSTOSIS: A HISTORICAL OVERVIEW CHAPTER DISCOVERY OF MSX2 MUTATION IN CRANIOSYNOSTOSIS: A RETROSPECTIVE VIEW CHAPTER REGULATION OF CALVARIAL BONE GROWTH BY MOLECULES INVOLVED IN THE CRANIOSYNOSTOSES CHAPTER SIGNAL TRANSDUCTION PATHWAYS AND THEIR IMPAIRMENT IN SYNDROMIC CRANIOSYNOSTOSIS CHAPTER THE MOLECULAR BASES FOR FGF RECEPTOR ACTIVATION IN CRANIOSYNOSTOSIS AND DWARFISM SYNDROMES CHAPTER RECURRENT GERMLINE MUTATIONS IN THE FGFR2/3 GENES, HIGH MUTATION FREQUENCY, PATERNAL SKEWING AND AGE-DEPENDENCE CHAPTER APERT, CROUZON, AND PFEIFFER SYNDROMES CHAPTER MUENKE SYNDROME CHAPTER SAETHRE-CHOTZEN SYNDROME: CLINICAL AND MOLECULAR GENETIC ASPECTS CHAPTER CRANIOFRONTONASAL SYNDROME: MOLECULAR GENETICS, EFNB1 MUTATIONS AND THE CONCEPT OF CELLULAR INTERFERENCE CHAPTER UNCOMMON CRANIOSYNOSTOSIS SYNDROMES: A REVIEW OF THIRTEEN CONDITIONS CHAPTER CHAPTER CRANIOSYNOSTOSIS AND CHROMOSOMAL ALTERATIONS CHAPTER NONSYNDROMIC CRANIOSYNOSTOSES CHAPTER MOLECULAR GENETIC TESTING OF PATIENTS WITH CRANIOSYNOSTOSIS CHAPTER PRENATAL SONOGRAPHIC DIAGNOSIS OF CRANIOSYNOSTOSIS CHAPTER CLINICAL APPROACH TO CRANIOSYNOSTOSIS CHAPTER IMAGING STUDIES AND NEUROSURGICAL TREATMENT CHAPTER