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Animal Models of Human Birth Defects / / edited by Aimin Liu
| Animal Models of Human Birth Defects / / edited by Aimin Liu |
| Edizione | [1st ed. 2020.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (vii, 244 pages) : illustrations |
| Disciplina | 616.043 |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Diagnosis, Laboratory
Animal models in research Molecular biology Laboratory Medicine Animal Models Molecular Medicine Malformacions Naixement Investigació Experimentació animal |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-15-2389-4 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Chapter 1: Using forward and reverse genetics in mouse to study birth defects -- Chapter 2: Using animals to study neural tube defects -- Chapter 3: Using animals to study ciliopathies -- Chapter 4: Using animals to model human skeletal defects -- Chapter 5: Understanding eye defects using animal models -- Chapter 6: Modelling kidney and urinary tract defects in animals -- Chapter 7: Pancreas development and type I diabetes -- Chapter 8: Using animals to study human birth defects affecting the functions of the digestive system -- Chapter 9: Modelling human birth defects with zebrafish -- Chapter 10: Modelling diseases with C. elegans -- Chapter 11: Infectious disease and birth defects. |
| Record Nr. | UNINA-9910409697703321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Birth Defects in India : Epidemiology and Public Health Implications / / edited by Anita Kar
| Birth Defects in India : Epidemiology and Public Health Implications / / edited by Anita Kar |
| Edizione | [1st ed. 2021.] |
| Pubbl/distr/stampa | Singapore : , : Springer Nature Singapore : , : Imprint : Springer, , 2021 |
| Descrizione fisica | 1 online resource (377 pages) |
| Disciplina | 614.5992 |
| Collana | Medicine Series |
| Soggetto topico |
Public health
Medical policy Social service Biotechnology Public Health Health Policy Social Care Malformacions Naixement Neonatologia Epidemiologia Salut pública |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-16-1554-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Birth Defects : a Public Health Approach -- Some common birth defects -- Thalidomide : Understanding the responsibilities of a birth defects service -- Birth defects surveillance in India -- Rare Disease registries: A case study of the haemophilia registry in India -- Magnitude of congenital anomalies in India -- Magnitude of developmental disabilities in India -- Magnitude and characteristics of children with congenital disabilities in India -- Preventing congenital anomalies through existing maternal and child health services in India -- Neural tube defects and folate status in India -- Haemoglobinopathies : Genetic services in India -- Medical, rehabilitation and social welfare services for children with birth defects and developmental disabilities in India -- Early Childhood Intervention Services in India -- Birth defects stigma -- Parenting a child with a disability: A review of caregivers’ needsin India and service implications -- Quality of life and psychosocial needs of caregivers of children with birth defects: A case study of haemophilia. |
| Record Nr. | UNINA-9910491025203321 |
| Singapore : , : Springer Nature Singapore : , : Imprint : Springer, , 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Birth defects research . Part C Embryo today : reviews
| Birth defects research . Part C Embryo today : reviews |
| Pubbl/distr/stampa | [Hoboken, N.J.], : Wiley-Liss, Inc., ©2003-2016 |
| Descrizione fisica | 1 online resource |
| Disciplina | 612.6 |
| Soggetto topico |
Abnormalities, Human - Research
Human embryo - Abnormalities Embryo, Mammalian - abnormalities Malformations Embryologie Embriologia humana Teratologia Malformacions |
| Soggetto genere / forma |
Computer network resources.
Periodicals. Revistes electròniques. |
| ISSN | 1542-9768 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti |
Embryo today
Embryo today, reviews Birth defects research |
| Record Nr. | UNINA-9910144093903321 |
| [Hoboken, N.J.], : Wiley-Liss, Inc., ©2003-2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Cavernomas of the CNS : Basic Science to Clinical Practice / / edited by Ondřej Bradáč, Vladimír Beneš
| Cavernomas of the CNS : Basic Science to Clinical Practice / / edited by Ondřej Bradáč, Vladimír Beneš |
| Edizione | [1st ed. 2020.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (VIII, 245 p. 124 illus., 38 illus. in color.) |
| Disciplina | 618.3268 |
| Soggetto topico |
Nervous system - Surgery
Blood-vessels - Surgery Neurology Neurosurgery Vascular Surgery Cirurgia vascular Malformacions Cervell |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-49406-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Brief History of Cavernous Malformations -- Definition and structure of cerebral cavernous malformations -- Molecular Biology of CCM -- Presentation -- Neuroimaging of Cerebral Cavernous Malformations -- Natural history of cavernous malformations -- Hemispherical Cavernomas in non-eloquent and eloquent areas -- Cavernoma-Related Epilepsy -- Surgery of deep-seated cavernous malformations -- Surgery of brainstem and cerebellar cavernous malformations -- Stereotactic Radiosurgery of Cavernous Malformations -- Cavernomas in children -- Cavernomas During Pregnancy -- Spinal cavernous malformations -- Intraorbital cavernous malformations. |
| Record Nr. | UNINA-9910416101103321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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The Chiari Malformations / / edited by R. Shane Tubbs, Mehmet Turgut, W. Jerry Oakes
| The Chiari Malformations / / edited by R. Shane Tubbs, Mehmet Turgut, W. Jerry Oakes |
| Edizione | [2nd ed. 2020.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (xix, 627 pages) |
| Disciplina | 616.8047 |
| Soggetto topico |
Neurology
Nervous system - Surgery Surgery Pain medicine Neurosurgery Pain Medicine Cerebel Malformacions Neurocirurgia Neurologia |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-44862-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Part I: History and Classifications -- 1. A History of the Chiari Malformations -- 2. Defining the Chiari Malformations: Past and Newer Classifications -- 3. Newer Subsets: Chiari 1.5 and Chiari 0 Malformations -- Part II: Embryology and Anatomy -- 4. Embryology of the Craniocervical Junction and Posterior Cranial Fossa -- 5. Embryology and Pathophysiology of the Chiari I and II Malformations -- 6. The Occipital Bone: Review of its Embryology and Molecular Development -- 7. The Proatlas -- 8. Development of the Atlas and its Variations -- 9. The Odontoid Process -- 10. Surgical Anatomy of the Craniocervical Junction Relevant to Chiari Malformations.-Part III: Pathology -- 11. Pathology of Chiari I and II Malformations -- 12. Research on the Pathophysiology of Chiari I-Related Symptoms and Syringomyelia, with Emphasis on Dynamic MRI Techniques -- 13. The Chiari Malformations and Hydrocephalus -- 14. Cerebellar Tonsillar Ischemia and Cysts in the Chiari I Malformation -- 15. Syringomyelia and the ChiariMalformations -- 16. Non-Hindbrain-Related Syringomyelia -- 17. Chiari and Scoliosis -- 18. Associated Bony Malformations and Instability in the Chiari I Malformation.-19. Ventral Decompression for Chiari Malformations -- 20. Chiari I Malformation and Craniosynostosis -- Part IV: Epidemiology, Natural History, and Genetics -- 21. Epidemiology of Chiari I Malformation -- 22. Natural History of Chiari Malformations -- 23. Genetics of the Chiari I and II Malformations -- Part V: Diagnostics -- 24. Electrophysiological Diagnostics in Chiari Malformation -- 25. Radiology -- 26. Measurement of the Volume of the Posterior Cranial Fossa using MRI -- 27. Intraoperative Ultrasound in Chiari Type I Malformation -- 28. Advanced Imaging of Chiari I Malformations -- Part VI: Clinical Presentations -- 29. Clinical Presentation of Pediatric Chiari I Malformations -- 30. Benign Chiari I Malformation -- 31. Unusual Presentations of the Chiari I Malformation -- 32. Clinical Presentation Adult Chiari I -- 33. Acute and Sudden Presentations of the Chiari Malformations -- 34. Associated Disorders of Chiari Type I Malformations -- 35. Association Between Fibromyalgia, Chronic Fatigue, and the Chiari I Malformation -- 36. Symptoms of the Chiari II Malformation -- Part VII: Treatment, Outcomes, and Complications -- 37. Treatment of the Pediatric Chiari I Malformation -- 38. Treatment of the Adult Chiari I Malformation -- 39. Treatment of the Chiari II Malformation -- 40. Chiari Type II Malformation: Reversibility Following Myelomeningocele Closure.-41. Duraplasty Versus Non-dural Opening for the Treatment of Pediatric Chiari Malformation Type I.-42. Chiari Decompression Outcomes Using Ligamentum Nuchae Harvest and Duraplasty in Pediatric Patients with Chiari I Malformation -- 43. Complications of Chiari Surgery -- 44. Secondary Interventions for Chiari I Malformation -- 45. Outcomes for the Surgical Management of Chiari I and Chiari II Malformations -- Part VIII: Miscellaneous -- 46. Chiari-Like Malformation in Dogs -- 47. Experimental Models of Chiari Malformations -- 48. Predictive Analysis in Chiari Type I Malformation -- 49 -- Treatment Costs of Chiari Type I Malformation -- 50. A Multidisciplinary Clinic for the Management of Chiari I Malformations -- 51. Chiari Malformations: a Patient’s Guide -- Part IX: Conclusions -- 52. Conclusions. |
| Record Nr. | UNINA-9910407727003321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Disorders|differences of sex development : an integrated approach to management / / John M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors
| Disorders|differences of sex development : an integrated approach to management / / John M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors |
| Edizione | [Second edition] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 |
| Descrizione fisica | 1 online resource (359 pages) |
| Disciplina | 618.928583 |
| Soggetto topico |
Sex differentiation disorders
Sexual disorders Human genetics Pediatrics Human Genetics Malformacions Aparell genital Infants |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-13-7864-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Current debate about definitions and the incidence of DSD (Disorders of Sex Development) -- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract -- Hormones Regulating Sex Development -- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD -- 46,XX DSD -- 46,XY DSD -- Mixed Sex Chromosome and Ovo-Testicular DSD -- Non-hormonal DSD -- Multiple Malformation Syndromes in DSD -- The Neonate with Ambiguous Genitalia -- DSD Later in Childhood -- The Adolescent or Young Adult with DSD -- Imaging in DSD -- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases -- The Medical Management of DSD -- Surgical Treatment in Infancy -- Laparoscopy for DSD -- The Family -- Genetic Counselling -- Cultural Differences and Controversies about Timing of Management -- A Long-Term Outcome Study of DSD in Melbourne -- Medical Management of Adolescents and Young Adults -- Gynaecological Management -- Psychological Management in Adolescence and Beyond -- Short-, Medium- and Long-Term Outcomes Following Surgery for DSD at Royal Children’s Hospital -- Long-Term Outcome of DSD: A World View -- Psychosocial issues and mental health in DSD patients -- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients -- Perspectives of patients, families and support groups -- Additional Material .-Video .-Index. |
| Altri titoli varianti | Disorders, differences of sex development |
| Record Nr. | UNINA-9910409685803321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Fetal diagnosis and therapy
| Fetal diagnosis and therapy |
| Pubbl/distr/stampa | Basel ; ; New York, : S. Karger, 1991- |
| Descrizione fisica | 1 online resource |
| Soggetto topico |
Prenatal diagnosis
Fetus - Diseases - Diagnosis Fetus - Diseases - Treatment Fetal Diseases - diagnosis Fetal Diseases - therapy Teràpia genètica Malformacions |
| Soggetto genere / forma |
Periodicals.
Fulltext Internet Resources. Periodical Revistes electròniques |
| ISSN | 1421-9964 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNISA-996200000803316 |
| Basel ; ; New York, : S. Karger, 1991- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Fetal diagnosis and therapy
| Fetal diagnosis and therapy |
| Pubbl/distr/stampa | Basel ; ; New York, : S. Karger, 1991- |
| Descrizione fisica | 1 online resource |
| Soggetto topico |
Prenatal diagnosis
Fetus - Diseases - Diagnosis Fetus - Diseases - Treatment Fetal Diseases - diagnosis Fetal Diseases - therapy Teràpia genètica Malformacions |
| Soggetto genere / forma |
Periodicals.
Fulltext Internet Resources. Periodical Revistes electròniques. |
| ISSN | 1421-9964 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910143124503321 |
| Basel ; ; New York, : S. Karger, 1991- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor
| Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (394 pages) |
| Disciplina | 617.5107572 |
| Soggetto topico |
Head - Abnormalities
Face - Abnormalities Malformacions Cara Cap Malformacions de l'articulació temporomandibular |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-46024-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Foreword -- Preface -- Acknowledgements -- Contents -- About the Editor -- Part I: General Aspects -- 1: The Challenge of Craniofacial Malformation Medicine in Perspective -- 1.1 Craniofacial Malformations in Arts and Media -- 1.2 Craniofacial Malformation and Societal Assessment -- 1.3 The Concept of Beauty -- 1.4 Craniofacial Malformations and Self-Assessment -- 1.5 Parental Involvement -- 1.6 Patient-Physician Communication -- 1.7 History of Facial Plastic, Reconstructive, and Cleft Surgery -- 1.8 The Evolution of Craniofacial Surgery -- 1.9 Future Directions in Craniofacial Surgery and Medicine -- 1.10 The Societal Answer Toward Facially Disfigured Persons -- 1.11 The Core -- References -- 2: Prenatal Diagnosis of Fetal Cranial Anomalies -- 2.1 Introduction -- 2.2 Embryology and Cranial Development -- 2.3 Cranial Anomalies -- 2.3.1 Craniosynostosis -- 2.3.2 Deformational Plagiocephaly -- 2.3.3 Aplasia Cutis Congenita -- 2.3.4 Encephalocele -- 2.4 Prenatal Evaluation and Management -- 2.4.1 Two-Dimensional (2D) and Three-Dimensional Ultrasound -- 2.4.2 Fetal Computed Tomography (CT) -- 2.4.3 Fetal Magnetic Resonance Imaging (MRI) -- 2.4.4 Prenatal Genetic Testing -- 2.4.5 Considerations for Delivery and Management -- 2.5 Conclusion -- References -- 3: Signal Pathways from the Plasma Membrane to the Nucleus Regulating Craniofacial Pattern Formation -- 3.1 Pattern Formation in Human Craniofacial Development -- 3.2 Signaling Pathways Regulating the Patterning and Growth of Facial Primordia -- 3.3 WNT/β-Catenin and Sonic Hedgehog Signaling in Facial Development -- 3.4 The Role of SMAD Proteins in Craniofacial Development -- 3.5 Loss-of-Function STAT3 Mutations in Hyper-IgE Syndrome -- 3.6 Design Principles of STAT3 Signaling -- 3.7 Nonclassical STAT3 Functions in Oxidative Respiration and Naïve Pluripotency.
References -- 4: The Developmental Interrelation Between the Nervous System and Craniofacial Complex as Evidenced from Craniofacial Malformations -- 4.1 Introduction -- 4.2 Development of the Craniofacial Complex -- 4.3 Craniofacial Dysmorphism -- 4.3.1 Dysmorphology -- 4.3.2 Malformations of the Craniofacial Complex -- 4.3.3 Craniofacial Microsomia (CFM) -- 4.4 Oral Clefts -- 4.4.1 Cleft Lip With or Without Cleft Palate -- 4.4.2 Cleft Palate (Isolated Cleft Palate, CPO) -- 4.5 Craniofacial Anomalies Induced by Teratogens -- 4.5.1 Methotrexate Embryopathy -- 4.5.2 Retinoid Embryopathy -- 4.5.3 Cyclophosphamide Embryopathy -- 4.5.4 Mycophenolate Mofetil -- 4.5.5 Valproic Acid (VPA) and Other Antiepileptic Drugs -- 4.5.6 Alcohol (Ethanol) Embryopathy -- 4.5.7 Smoking and Oral Clefts -- 4.6 Craniosynostoses and Primary Abnormalities in the Shape of the Skull -- 4.6.1 Syndromic Craniosynostoses -- 4.6.2 Specific Syndromes -- 4.6.3 Non-syndromic Craniosynostosis -- 4.7 Genetic Syndromes Affecting Extracranial Organs with Craniofacial Manifestations -- 4.8 Anomalies of Dentition and Craniofacial Malformations -- 4.9 Conclusions -- References -- 5: Morphometrics, Optical 3D Imaging, and Monitoring of Craniofacial Development and Malformations -- 5.1 Introduction -- 5.2 Cephalometry -- 5.3 Medical Applications -- 5.4 Scanning Techniques -- 5.4.1 Photogrammetry -- 5.4.2 Structure from Motion (SFM) -- 5.4.3 Structured Light -- 5.4.4 Time-of-Flight Cameras -- 5.4.5 Accuracy -- 5.5 Clinical Application -- 5.5.1 Augmented Reality -- 5.6 Radiological Detection of Facial and Cranial Structures -- 5.7 Symmetry Analysis -- 5.7.1 Cranial Vault Asymmetry Index (CVAI) -- 5.7.2 The 3D Asymmetry Index (3DAI) -- 5.7.3 Landmarks -- 5.8 Shape Analysis -- 5.8.1 Bookstein Coordinates -- 5.8.2 Procrustes Analysis. 5.8.3 Anthropometric Mask -- 5.9 Conclusion -- References -- 6: Classification of Craniofacial Malformations -- 6.1 Introduction -- 6.2 The Development of Classification Systems -- 6.3 Current Concepts of Disease Classification -- 6.4 Genetic Access to Normal and Disturbed Head Formation -- 6.5 Pathogenetic Access to Normal and Disturbed Head Formation -- 6.6 Aspects of Disease-Related Phenotype Documentation -- 6.7 Craniofacial Classification Models -- 6.8 Proposed New Classification System -- References -- Part II: Biological Basis of Disease -- 7: The Biological Basis of Chromosomal and Single Gene Disorders -- 7.1 DNA -- 7.1.1 What Are Chromosomes? -- 7.1.2 Then What Are Genes? Where Are They Located? -- 7.2 Alleles -- 7.2.1 Derivation of Fundamental Laws of Inheritance -- 7.2.2 What Are Genetic Disorders? -- 7.2.3 Single Gene Disorders -- 7.2.4 Mode of Inheritance in Single Gene Disorder -- 7.2.5 Mutations in Single Gene Disorders -- 7.3 Chromosomal Disorders -- 7.3.1 Numerical Abnormalities in Chromosomal Disorders -- 7.3.2 Structural Abnormalities in Chromosomal Disorders -- 7.3.2.1 Balanced Rearrangements -- 7.3.2.2 Unbalanced Rearrangements -- 7.4 Cancer: A Genetic Disease -- 7.4.1 Genetic Factors in Cancer -- 7.4.2 Other Contributing Factors in Cancer -- 7.5 Conclusion -- References -- 8: Fundamental Mechanisms of Orofacial Clefts -- 8.1 Introduction -- 8.2 Genetics and Signaling Mechanisms of Orofacial Clefts -- 8.2.1 Genetics of Nonsyndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2 Syndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2.1 Van der Woude Syndrome -- 8.2.2.2 Pierre Robin Sequence -- 8.2.2.3 Chromosome 22. 22q11.2 Deletion Syndrome -- 8.2.2.4 Craniofacial Ciliopathies -- 8.2.2.5 Hedgehog Signaling. 8.3 Essential Nutrients and Orofacial Clefts -- 8.3.1 Dietary Folate -- 8.3.2 Dietary Retinoids -- 8.4 Pharmaceuticals and Orofacial Clefts -- 8.4.1 Pharmaceutical Retinoids -- 8.4.2 Glucocorticoids -- 8.4.3 Anti-epileptic Drugs -- 8.5 Domestic and Occupational Exposures and Orofacial Clefts -- 8.5.1 Solvents -- 8.5.2 Pesticides -- 8.5.3 Dioxins -- 8.5.4 Polychlorinated Biphenyls and Polychlorinated Dibenzofurans -- 8.5.5 Metals -- 8.5.6 Air Pollutants -- 8.6 Parental Behavior, Metabolic Status, and Orofacial Clefts -- 8.6.1 Tobacco Smoking -- 8.6.2 Electronic Nicotine Delivery Systems -- 8.6.3 Alcohol Consumption -- 8.6.4 Metabolic Disease -- 8.7 Geography, Ethnic Influences, and Orofacial Clefts -- 8.8 Pathogens and Orofacial Clefts -- 8.9 Epigenetic Mechanisms of Orofacial Clefts -- 8.9.1 DNA Methylation -- 8.9.2 Histone Modifications -- 8.10 MicroRNAs and Orofacial Clefts -- 8.11 Conclusions and Perspectives -- References -- 9: Biological Basis of Craniosynostosis -- 9.1 Introduction -- 9.2 Syndromic Forms of Primary Craniosynostoses -- 9.2.1 Crouzon Syndrome -- 9.2.2 Apert Syndrome -- 9.2.3 Pfeiffer Syndrome -- 9.2.4 Jackson-Weiss Syndrome -- 9.2.5 Muenke Syndrome -- 9.2.6 Saethre-Chotzen Syndrome -- 9.2.7 Craniofrontonasal Syndrome -- 9.3 Non-syndromic Forms of Primary Craniosynostoses -- 9.4 Secondary Craniosynostoses -- 9.5 Conclusion -- References -- 10: Biological Basis of Branchial Arch Diseases -- 10.1 Introduction -- 10.2 Pathogenesis of Facial Development -- 10.3 Tissue and Organs Involved in Branchial Arch Diseases -- 10.3.1 Anatomical Involvement -- 10.3.1.1 Bones -- 10.3.1.2 Muscles -- 10.3.1.3 Nerves -- 10.3.2 Sensory Organs (Eyes, Ears, Tongue) -- 10.3.2.1 Ears -- 10.3.2.2 Eyes -- 10.3.2.3 Tongue -- 10.4 Branchial Arch Syndromes -- 10.4.1 Treacher Collins syndrome. 10.4.1.1 General -- 10.4.1.2 Epidemiology -- 10.4.1.3 Genetics -- 10.4.1.4 Clinical Manifestation -- 10.4.2 Hemifacial Microsomia/Oculo-auriculo-vertebral Dysplasia with Subtype Goldenhar Syndrome -- 10.4.2.1 General -- 10.4.2.2 Epidemiology -- 10.4.2.3 Genetics -- 10.4.2.4 Clinical Manifestation -- 10.4.3 Auriculocondylar Syndrome -- 10.4.3.1 General -- 10.4.3.2 Epidemiology -- 10.4.3.3 Genetics -- 10.4.3.4 Clinical Manifestation -- 10.4.4 Stickler Syndrome -- 10.4.4.1 General -- 10.4.4.2 Epidemiology -- 10.4.4.3 Genetics -- 10.4.4.4 Clinical Manifestation -- 10.4.5 DiGeorge Syndrome -- 10.4.5.1 General -- 10.4.5.2 Epidemiology -- 10.4.5.3 Genetics -- 10.4.5.4 Clinical Manifestation -- 10.4.6 Pierre Robin Syndrome/Sequence (PRS) -- 10.4.6.1 General -- 10.4.6.2 Epidemiology -- 10.4.6.3 Genetics -- 10.4.6.4 Clinical Manifestation -- 10.4.7 Acrofacial Dysostosis -- 10.4.7.1 Nager Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.2 Miller Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.3 Cincinnati Type -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- References -- 11: The Biological Basis of Craniofacially Conjoined Twins -- 11.1 Introduction -- 11.2 Epidemiology of Conjoined Twins -- 11.3 History of Conjoined Twins (Siamese Twins) -- 11.4 Types of Conjoined Twins -- 11.5 Types of Twinning in the Craniofacial Region -- 11.6 Biology of Conjoined Twinning -- 11.7 Biology of Facial Duplication -- 11.8 Early Diagnostics of Conjoined Twins -- References -- 12: Biological Basis of Craniofacial Soft Tissue Malformations -- 12.1 Introduction -- 12.2 Phakomatoses -- 12.2.1 Nevoid Basal Cell Carcinoma Syndrome (NBCCS, Gorlin-Goltz Syndrome) -- 12.2.2 Neurofibromatosis (NF) -- 12.2.3 Sturge-Weber Syndrome (SWS). 12.2.4 von Hippel-Lindau Disease (VHL). |
| Record Nr. | UNINA-9910488697603321 |
| Cham, Switzerland : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Teratogenesis, carcinogenesis, and mutagenesis
| Teratogenesis, carcinogenesis, and mutagenesis |
| Pubbl/distr/stampa | [New York], : [Alan R. Liss], : Wiley-Liss, Inc., ©1980- |
| Descrizione fisica | 1 online resource |
| Disciplina | 576 |
| Soggetto topico |
Carcinogenesis
Mutagens Teratogenic agents Teratogens Carcinogens teratogens carcinogens mutagens Teratogenese Malformacions Carcinogènesi Mutagènesi |
| Soggetto genere / forma |
Internet resource
Periodicals. Revistes electròniques. |
| ISSN | 1520-6866 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | TCM |
| Record Nr. | UNINA-9910329455403321 |
| [New York], : [Alan R. Liss], : Wiley-Liss, Inc., ©1980- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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