Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and TreatmentAvailable to Purchase
Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units. This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.
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Table of Contents
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1 - 7: Craniosynostosis: A Historical OverviewByB.D. Solomon;B.D. SolomonaMedical Genetics Branch, National Human Genome Research Institute, National Insitutes of Health, Bethesda, Md., USA;Search for other works by this author on:W. Kress;W. KresscInstitute of Human Genetics, Julius-Maximilians University, Würzburg, GermanySearch for other works by this author on:M. MuenkeM. MuenkeaMedical Genetics Branch, National Human Genome Research Institute, National Insitutes of Health, Bethesda, Md., USA;Search for other works by this author on:
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8 - 12: Discovery of MSX2 Mutation in Craniosynostosis: A Retrospective ViewByU. MüllerU. MüllerInstitut für Humangenetik, Justus-Liebig-Universität, Gieβen, GermanySearch for other works by this author on:
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13 - 27: Regulation of Calvarial Bone Growth by Molecules Involved in the CraniosynostosesByM.D. Benson;M.D. BensonTexas A&M Health Science Center, Baylor College of Dentistry, Dallas, Tex., USASearch for other works by this author on:L.A. OppermanL.A. OppermanTexas A&M Health Science Center, Baylor College of Dentistry, Dallas, Tex., USASearch for other works by this author on:
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28 - 44: Signal Transduction Pathways and Their Impairment in Syndromic CraniosynostosisByJ.J. Connerney;J.J. ConnerneyaDepartment of Biology, Boston University, Boston, Mass.,Search for other works by this author on:D.B. SpicerD.B. SpicerbCenter for Molecular Medicine, Maine Medical Center Research Institute, Scarborough, Me., USASearch for other works by this author on:
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45 - 57: The Molecular Bases for FGF Receptor Activation in Craniosynostosis and Dwarfism SyndromesByA. Beenken;A. BeenkenNew York University School of Medicine, Department of Pharmacology, New York, N.Y, USASearch for other works by this author on:M. MohammadiM. MohammadiNew York University School of Medicine, Department of Pharmacology, New York, N.Y, USASearch for other works by this author on:
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58 - 66: Recurrent Germline Mutations in the FGFR2/3 Genes, High Mutation Frequency, Paternal Skewing and Age-DependenceByN. Arnheim;N. ArnheimMolecular and Computational Biology Program, University of Southern California, Los Angeles, Calif., USASearch for other works by this author on:P. CalabreseP. CalabreseMolecular and Computational Biology Program, University of Southern California, Los Angeles, Calif., USASearch for other works by this author on:
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67 - 88: Apert, Crouzon, and Pfeiffer SyndromesByM.M. Michael Cohen Jr.M.M. Michael Cohen Jr.Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, N.S., CanadaSearch for other works by this author on:
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89 - 97: Muenke SyndromeByB.D. Solomon;B.D. SolomonMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USASearch for other works by this author on:M. MuenkeM. MuenkeMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USASearch for other works by this author on:
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98 - 106: Saethre-Chotzen Syndrome: Clinical and Molecular Genetic AspectsByH. CollmannH. CollmannbDepartment of Neurosurgery, Julius-Maximilians University, Würzburg, GermanySearch for other works by this author on:
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107 - 118: Craniofrontonasal Syndrome: Molecular Genetics, EFNB1 Mutations and the Concept of Cellular InterferenceByI. WielandI. WielandInstitute of Human Genetics, University Clinic, Otto-von-Guericke-University, Magdeburg, GermanySearch for other works by this author on:
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119 - 142: Uncommon Craniosynostosis Syndromes: A Review of Thirteen ConditionsByM.S. Raam;M.S. RaamaMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.,bHHMI-NIH Research Scholars Program, Howard Hughes Medical Institute, Chevy Chase, Md., USASearch for other works by this author on:M. MuenkeM. MuenkeaMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.,Search for other works by this author on:
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143 - 151: Metopic Craniosynostosis Syndrome Due to Mutations in GLI3ByD.M.M. McDonald-McGinn;D.M.M. McDonald-McGinnaDivision of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia,Search for other works by this author on:H. Feret;H. FeretaDivision of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia,Search for other works by this author on:H-D. Nah;H-D. NahbDivision of Plastic and Reconstructive Surgery, Department of Surgery, The Children’s Hospital of Philadelphia,Search for other works by this author on:E.H. ZackaiE.H. ZackaiaDivision of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia,cDepartments of Obstetrics and Gynecology and Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pa., USASearch for other works by this author on:
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152 - 164: Craniosynostosis and Chromosomal AlterationsByM.R. Passos-Bueno;M.R. Passos-BuenoHuman Genome Center, Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, BrazilSearch for other works by this author on:R.D. Fanganiello;R.D. FanganielloHuman Genome Center, Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, BrazilSearch for other works by this author on:F.S. JeheeF.S. JeheeHuman Genome Center, Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, BrazilSearch for other works by this author on:
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165 - 176: Nonsyndromic CraniosynostosesByH. Collmann;H. CollmannaSection of Pediatric Neurosurgery, Julius-Maximilians University, Würzburg, Germany;Search for other works by this author on:B.D. Solomon;B.D. SolomonbMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USA;Search for other works by this author on:T. Schweitzer;T. SchweitzeraSection of Pediatric Neurosurgery, Julius-Maximilians University, Würzburg, Germany;Search for other works by this author on:W. Kress;W. KresscInstitute of Human Genetics, Julius-Maximilians University, Würzburg, GermanySearch for other works by this author on:M. MuenkeM. MuenkebMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USA;Search for other works by this author on:
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177 - 183: Molecular Genetic Testing of Patients with CraniosynostosisByU. HehrU. HehrCenter for and Department of Human Genetics, University of Regensburg, Regensburg, GermanySearch for other works by this author on:
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184 - 198: Prenatal Sonographic Diagnosis of CraniosynostosisByT. SchrammT. SchrammPrenatal Medicine Munich, Human Genetics and Obstetrics, Munich, GermanySearch for other works by this author on:
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199 - 215: Clinical Approach to CraniosynostosisByK.W. GrippK.W. GrippAlfred I. duPont Hospital for Children, Wilmington, Del., USASearch for other works by this author on:
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216 - 231: Imaging Studies and Neurosurgical TreatmentByH. Collmann;H. CollmannaSection of Pediatric Neurosurgery, Neurosurgical Department,Search for other works by this author on:T. Schweitzer;T. SchweitzeraSection of Pediatric Neurosurgery, Neurosurgical Department,Search for other works by this author on:H. BöhmH. BöhmbDepartment of Maxillofacial Surgery, University of Würzburg, Würzburg, GermanySearch for other works by this author on:
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232 - 243: Maxillofacial Examination and TreatmentByT. Schweitzer;T. SchweitzerbDepartment of Paediatric Neurosurgery, University of Würzburg, Würzburg, GermanySearch for other works by this author on:A. KüblerA. KübleraDepartment of Maxillofacial Surgery,Search for other works by this author on: