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Informed Consent in Predictive Genetic Testing [[electronic resource] ] : A Revised Model / / by Jessica Minor
| Informed Consent in Predictive Genetic Testing [[electronic resource] ] : A Revised Model / / by Jessica Minor |
| Autore | Minor Jessica |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (237 p.) |
| Disciplina |
599935
610 611.01816 613 616.89 616.8914 |
| Soggetto topico |
Maternal and child health services
Psychotherapy Counseling Human genetics Health psychology Maternal and Child Health Psychotherapy and Counseling Human Genetics Health Psychology |
| ISBN | 3-319-17416-9 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Predictive Genetic Testing -- The History and Components of Informed Consent -- Revised Model of Informed Consent -- Application of the Revised Model -- Conclusion. |
| Record Nr. | UNINA-9910300212703321 |
Minor Jessica
|
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| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inherited Chorioretinal Dystrophies [[electronic resource] ] : A Textbook and Atlas / / edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder
| Inherited Chorioretinal Dystrophies [[electronic resource] ] : A Textbook and Atlas / / edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (477 p.) |
| Disciplina |
599935
610 611.01816 616.07 |
| Soggetto topico |
Ophthalmology
Human genetics Pathology Human Genetics |
| ISBN | 3-540-69466-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Investigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fundus autofluorescence in retinal dystrophies -- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies -- Inherited stationary disorders of the retina -- Retinitis pigmentosa and allied disorders -- Leber congenital amaurosis -- Retinitis punctata albescens -- Usher Syndromes -- Cone and Cone-rod dystrophies -- Enhanced S-Cone syndrome -- Chorioretinopathies: Choroideremia and gyrate atrophy -- Late onset retinal degeneration -- Stargardt Disease -- Bestrophinopathies -- Retinal dystrophies associated with the PRPH2 gene -- Alström syndrome -- Bardet-Biedl syndrome -- Cohen syndrome -- Juvenile neuronal ceroid lipofuscinosis (JNCL) -- Adult Refsum disease -- Abetalipoproteinemia -- LCHAD deficiency -- Jalili syndrome -- Spinocerebellar ataxia -- Dominant cystoid macular dystrophy -- Autosomal dominant Stargardt-like macular dystrophy (ELOVL4). - Spastic paraplegia and retinal degeneration. Kjellin syndrome -- Autosomal dominant drusen -- Cuticular drusen -- Extensive macular atrophy with pseudodrusen-like appearance (EMAP) -- Congenital hypotrichosis with juvenile macular dystrophy -- Mitochondrial retinopathies -- Sorsby fundus dystrophy -- Bietti crystalline corneoretinal dystrophy -- Cystinosis -- Oxalosis -- Alport syndrome -- X-linked retinoschisis -- Paramacular choriocapillaris atrophy -- Exudative vitreoretinopathy -- Stickler syndrome -- Wagner syndrome -- Incontinentia pigmenti Type II (IP2) -- Ganglion cell disease -- Pseudoxanthoma elasticum -- Aicardi Syndrome -- Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome) -- Alagille syndrome -- Future therapies for retinitis pigmentosa. |
| Record Nr. | UNINA-9910300066103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD Reports Volume 16 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports Volume 16 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (113 p.) |
| Disciplina |
599935
610 611.01816 612 616.39 618.92 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-662-44587-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect; Abstract; Introduction; Material and Methods; Patients; Leucine Loading Tests; Urinary Organic Acid Analysis; Leucine Loading Tests in Patients Described in the Literature; Results; Discussion; Disclosures; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta; Abstract; Introduction; Objective
Materials and MethodsStatistical Analysis; Results; Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII; Abstract; Introduction; Materials and Method; Subjects; Chemicals and Materials; Sample Preparation; Apparatus; Method Validation; Statistical Analysis; Results; LC-MS/MS Conditions; Calibration Curves; Precision and Accuracy; Chondroitin 6-Sulfate (C6S) Levels Keratan Sulfate (KS) LevelCorrelation Between KS and C6S Levels; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions to the Project; References; Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis; Abstract; Background; Patients and Methods; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson DiseaseAbstract; Introduction; Methods; Data Collection; Statistical Analysis; Results; Discussion; Sources of Support; Synopsis Sentence; Compliance with Ethics Guidelines; Conflict of Interest; Other Disclosures; Informed Consent; Animal Rights; Individual Author Contributions; Guarantor; References; Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I; Abstract; Introduction; Case Report; Methods; Conventional, Pulse Doppler, and Speckle Tracking Echocardiograms Statistical AnalysisResults; Clinical Findings After LRT; Echocardiographic Findings After LRT; Relation of LV Weight to Urinary Uronic Acid Concentration, Diastolic Function, and Contraction Synchrony; Discussion; Limitations; Funding; Disclosure; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Author Contributions; Competing Interests; Funding; References; Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis Details of the Contributions of Individual Authors |
| Record Nr. | UNINA-9910300341103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD Reports, Volume 14 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports, Volume 14 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (116 p.) |
| Disciplina |
599935
610 611.01816 612 616.39 618.92 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-662-43748-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) G...; Abstract; Introduction; Materials and Methods; Patients; ARSB Mutation Analysis; Sequence Variations Nomenclature; Analysis of the New Missense Sequence Variation; Results; Genotype-Phenotype Correlation; Family Studies; Discussion; One-Sentence Take-Home Message; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; Conflict of Interest
ReferencesDanon Disease Due to a Novel LAMP2 Microduplication; Abstract; Introduction; Methods; Results; Discussion; Acknowledgments; Synopsis; Compliance with Ethics Guidelines; Author Contributions; References; Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis; Abstract; Introduction; Case Reports; Discussion; One-Sentence Take-Home Message; Contribution of Individual Authors; References; Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study; Abstract; Introduction; Materials and Methods; DBS Samples; Enzyme Assay; Results and Discussion ConclusionConflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Abnormalities in Glycogen Metabolism in a Patient with Alpers´ Syndrome Presenting with Hypoglycemia; Abstract; Introduction; Case Report; Discussion; Competing Interest; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions of Individual Authors; References; Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III; Abstract; Introduction; Methods; Results; Basal Metabolic Rate Nutritional StatusDiscussion; Conclusion; Summary; References; Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome; Abstract; Introduction; Conclusions; Compliance with Ethics Guidelines; Informed Consent; References; Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study; Abstract; Introduction; Methods; Statistical Analysis; Results; Discussion; Conclusions; Compliance with Ethics Guidelines; References The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobi...Abstract; Introduction; Materials and Methods; Results; Discussion; Conflict of Interest; Synopsis; Compliance with Ethics Guidelines; Details of Contributions of Individual Authors; References; Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor; Abstract; Introduction; Case Report; Discussion; Conflict of Interest; Informed Consent; Contributions of Individual Authors; References Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years´ Experience |
| Record Nr. | UNINA-9910300066603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Limb Malformations [[electronic resource] ] : An Atlas of Genetic Disorders of Limb Development / / by Stefan Mundlos, Denise Horn
| Limb Malformations [[electronic resource] ] : An Atlas of Genetic Disorders of Limb Development / / by Stefan Mundlos, Denise Horn |
| Autore | Mundlos Stefan |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (274 p.) |
| Disciplina |
599935
610 611.01816 616.0757 |
| Soggetto topico |
Human genetics
Orthopedic surgery Pediatrics Radiology, Medical Human Genetics Surgical Orthopedics Imaging / Radiology |
| ISBN | 3-540-95928-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Foreword""; ""Preface""; ""Acknowledgements""; ""Table of Contents""; ""I Introduction""; ""1 Development of the Limbs""; ""2 Clinical Assessment and Anthropometry of the Limbs""; ""3 Radiology of the Limb ""; ""4 Surgical Management Principles for Congenital Upper Limb Malformations""; ""II Disorders: Polydactyly Isolated""; ""5 Preaxial Polydactyly""; ""6 Postaxial Polydactyly ""; ""7 Greig Cephalopolysyndactyly Syndrome ""; ""8 Triphalangeal Thumb-Polydactyly Syndrome ""; ""8 Synpolydactyly ""; ""10 Laurin�Sandrow Syndrome""; ""III Disorders: Polydactyly Associated""
""11 Ellis�Van Creveld Syndrome""""12 Short Rib-Polydactyly Syndromes""; ""13 Bardet�Biedl Syndrome""; ""14 Meckel Syndrome""; ""15 Carpenter Syndrome""; ""16 Acrocallosal Syndrome""; ""17 Townes�Brocks Syndrome""; ""18 Pallister�Hall Syndrome""; ""IV Disorders: Syndactyly Isolated""; ""19 Syndactyly Type Lueken""; ""20 Metacarpal 4�5 Fusion Syndrome""; ""21 Syndactyly Type Haas""; ""22 Acropectorovertebral Dysplasia""; ""V Disorders: Syndactyly Associated""; ""23 Apert Syndrome""; ""24 Craniosynostosis, Philadelphia Type""; ""25 Fraser Syndrome""; ""26 Cenani�Lenz Syndrome"" ""27 Oculodentodigital Dysplasia""""28 Oro-Facial-Digital Syndrome, Type 1""; ""29 Ectodermal Dysplasia�Syndactyly Syndrome""; ""30 Smith�Lemli�Opitz Syndrome""; ""VI Disorders: Brachydactyly Isolated""; ""31 Brachydactyly Type A1""; ""32 Brachydactyly Type A2""; ""33 Brachydactyly Type B1""; ""34 Brachydactyly Type B2""; ""35 Brachydactyly Type C""; ""36 Brachydactyly Type E; Brachydactyly Type D""; ""37 Cooks Syndrome""; ""VII Disorders: Brachydactyly Associated""; ""38 Adams�Oliver Syndrome""; ""39 Hand-Foot-Genital Syndrome""; ""40 Catel�Manzke Syndrome"" ""41 Feingold Syndrome""""42 Albright Hereditary Osteodystrophy""; ""43 Brachydactyly-Hypertension Syndrome""; ""44 Rubinstein�Taybi Syndrome""; ""45 Cranioectodermal Dysplasia""; ""46 Temtamy Preaxial Brachydactyly Syndrome""; ""47 Fibrodysplasia Ossificans Progressiva""; ""48 Enchondromatosis, Ollier Type""; ""49 Trichorhinophalangeal Syndrome""; ""50 Acrodysostosis, With or Without Hormone Resistance""; ""51 Acromicric Dysplasia""; ""VIII Abnormal Joint Formation/Synostosis""; ""52 Symphalangism; Multiple Synostoses Syndrome; Tarsal/Carpal Coalition Syndrome Teunissen�Cremers Syndrome""""53 Antley�Bixler Syndrome With/Without Genital Anomalies or Disordered Steroidogenesis""; ""54 Liebenberg Syndrome""; ""55 Nail�Patella Syndrome""; ""56 Small Patella Syndrome""; ""57 Larsen Syndrome""; ""IX Contracture Deformities""; ""58 Amyoplasia Congenita""; ""59 Freeman�Sheldon Syndrome""; ""60 Multiple Pterygium Syndrome, Escobar Variant""; ""61 Beals Syndrome""; ""X Reduction Anomalies: Upper and Lower Limbs""; ""62 Acheiropodia""; ""63 Al-Awadi/Raas�Rothschild/Schinzel Phocomelia Syndrome""; ""64 Tetra-Amelia, Peromelia"" ""65 Hanhart Syndrome"" |
| Record Nr. | UNINA-9910845499603321 |
|
Mundlos Stefan
|
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| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Limb Malformations [[electronic resource] ] : An Atlas of Genetic Disorders of Limb Development / / by Stefan Mundlos, Denise Horn
| Limb Malformations [[electronic resource] ] : An Atlas of Genetic Disorders of Limb Development / / by Stefan Mundlos, Denise Horn |
| Autore | Mundlos Stefan |
| Pubbl/distr/stampa | Springer Berlin Heidelberg, 2014 |
| Descrizione fisica | 1 online resource (274 p.) |
| Disciplina |
599935
610 611.01816 616.0757 |
| Soggetto topico |
Human genetics
Orthopedic surgery Pediatrics Radiology, Medical Human Genetics Surgical Orthopedics Imaging / Radiology |
| ISBN | 3-540-95928-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Foreword""; ""Preface""; ""Acknowledgements""; ""Table of Contents""; ""I Introduction""; ""1 Development of the Limbs""; ""2 Clinical Assessment and Anthropometry of the Limbs""; ""3 Radiology of the Limb ""; ""4 Surgical Management Principles for Congenital Upper Limb Malformations""; ""II Disorders: Polydactyly Isolated""; ""5 Preaxial Polydactyly""; ""6 Postaxial Polydactyly ""; ""7 Greig Cephalopolysyndactyly Syndrome ""; ""8 Triphalangeal Thumb-Polydactyly Syndrome ""; ""8 Synpolydactyly ""; ""10 Laurin�Sandrow Syndrome""; ""III Disorders: Polydactyly Associated""
""11 Ellis�Van Creveld Syndrome""""12 Short Rib-Polydactyly Syndromes""; ""13 Bardet�Biedl Syndrome""; ""14 Meckel Syndrome""; ""15 Carpenter Syndrome""; ""16 Acrocallosal Syndrome""; ""17 Townes�Brocks Syndrome""; ""18 Pallister�Hall Syndrome""; ""IV Disorders: Syndactyly Isolated""; ""19 Syndactyly Type Lueken""; ""20 Metacarpal 4�5 Fusion Syndrome""; ""21 Syndactyly Type Haas""; ""22 Acropectorovertebral Dysplasia""; ""V Disorders: Syndactyly Associated""; ""23 Apert Syndrome""; ""24 Craniosynostosis, Philadelphia Type""; ""25 Fraser Syndrome""; ""26 Cenani�Lenz Syndrome"" ""27 Oculodentodigital Dysplasia""""28 Oro-Facial-Digital Syndrome, Type 1""; ""29 Ectodermal Dysplasia�Syndactyly Syndrome""; ""30 Smith�Lemli�Opitz Syndrome""; ""VI Disorders: Brachydactyly Isolated""; ""31 Brachydactyly Type A1""; ""32 Brachydactyly Type A2""; ""33 Brachydactyly Type B1""; ""34 Brachydactyly Type B2""; ""35 Brachydactyly Type C""; ""36 Brachydactyly Type E; Brachydactyly Type D""; ""37 Cooks Syndrome""; ""VII Disorders: Brachydactyly Associated""; ""38 Adams�Oliver Syndrome""; ""39 Hand-Foot-Genital Syndrome""; ""40 Catel�Manzke Syndrome"" ""41 Feingold Syndrome""""42 Albright Hereditary Osteodystrophy""; ""43 Brachydactyly-Hypertension Syndrome""; ""44 Rubinstein�Taybi Syndrome""; ""45 Cranioectodermal Dysplasia""; ""46 Temtamy Preaxial Brachydactyly Syndrome""; ""47 Fibrodysplasia Ossificans Progressiva""; ""48 Enchondromatosis, Ollier Type""; ""49 Trichorhinophalangeal Syndrome""; ""50 Acrodysostosis, With or Without Hormone Resistance""; ""51 Acromicric Dysplasia""; ""VIII Abnormal Joint Formation/Synostosis""; ""52 Symphalangism; Multiple Synostoses Syndrome; Tarsal/Carpal Coalition Syndrome Teunissen�Cremers Syndrome""""53 Antley�Bixler Syndrome With/Without Genital Anomalies or Disordered Steroidogenesis""; ""54 Liebenberg Syndrome""; ""55 Nail�Patella Syndrome""; ""56 Small Patella Syndrome""; ""57 Larsen Syndrome""; ""IX Contracture Deformities""; ""58 Amyoplasia Congenita""; ""59 Freeman�Sheldon Syndrome""; ""60 Multiple Pterygium Syndrome, Escobar Variant""; ""61 Beals Syndrome""; ""X Reduction Anomalies: Upper and Lower Limbs""; ""62 Acheiropodia""; ""63 Al-Awadi/Raas�Rothschild/Schinzel Phocomelia Syndrome""; ""64 Tetra-Amelia, Peromelia"" ""65 Hanhart Syndrome"" |
| Record Nr. | UNINA-9910853991103321 |
|
Mundlos Stefan
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| Springer Berlin Heidelberg, 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Molecular Genetics of Dysregulated pH Homeostasis [[electronic resource] /] / edited by Jen-Tsan Ashley Chi
| Molecular Genetics of Dysregulated pH Homeostasis [[electronic resource] /] / edited by Jen-Tsan Ashley Chi |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (158 p.) |
| Disciplina |
571.6
599935 610 611.01816 |
| Soggetto topico |
Human genetics
Cell biology Medicine Human Genetics Cell Biology Biomedicine, general |
| ISBN | 1-4939-1683-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Molecular Genetics of Acid Sensing and Response -- Part I: Sensing Acidity -- The molecular mechanism of cellular sensing of acidity -- The Molecular Basis of Sour Sensing in Mammals -- Function and Signaling of the pH-sensing G protein-coupled receptors in physiology and diseases -- Part II: Response to Acidity -- The MondoA-TXNIP checkpoint couples the acidic tumor microenvironment to cell metabolism -- Regulation of Renal Glutamine Metabolisms during Metabolic Acidosis -- Extracellular acidosis and cancer -- The genomic analysis of cellular responses and adaptions to extracellular acidosis -- Index. |
| Record Nr. | UNINA-9910298335203321 |
| New York, NY : , : Springer New York : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Molecular Genetics of Inflammatory Bowel Disease [[electronic resource] /] / edited by Mauro D'Amato, John D Rioux
| Molecular Genetics of Inflammatory Bowel Disease [[electronic resource] /] / edited by Mauro D'Amato, John D Rioux |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | New York, NY : , : Springer New York : , : Imprint : Springer, , 2013 |
| Descrizione fisica | 1 online resource (344 p.) |
| Disciplina |
599935
610 611.01816 616.344042 |
| Soggetto topico |
Human genetics
Molecular biology Medicine Human Genetics Molecular Medicine Biomedicine, general |
| ISBN | 1-4614-8256-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Part 1: The Foundation of IBD Genetics, Human and Animal Studies -- A Primer on IBD: Phenotypes, Diagnosis, Treatment and Clinical Challenges -- Genetic Epidemiology of Inflammatory Bowel Disease, Early Twin and Family Studies -- Insights from Recent Advances in Animal Models of Inflammatory Bowel Disease -- Part Two: The Genetic and Molecular Makeup of Inflammatory Bowel Disease -- Complex Disease Genes and their Discovery -- The Genetics of Crohn's Disease -- Genetics of Ulcerative Colitis -- Genetic Overlap between Inflammatory Bowel Disease and Other Diseases -- Molecular Profiling of IBD Subtypes/Response to Therapy -- Epigenetics of Inflammatory Bowel Disease -- Part 3: Pathogenetic Pathways in Inflammatory Bowel Disease -- Nod1 and Nod2 and the Immune Response to Bacteria -- The IL-23-Th17 Axis in Intestinal Inflammation -- Inflammatory Bowel Disease at the Intersection of Autophagy and Immunity: Insights from Human Genetics -- The Epithelial Barrier -- Host Interactions with Bacteria: From “Entente Cordiale” to “Casus Belli” -- Cytokines in Inflammatory Bowel Disease -- Part 4: Concluding Remarks and Future Perspectives -- Towards Personalized Therapy in Inflammatory Bowel Disease -- Index. |
| Record Nr. | UNINA-9910437841103321 |
| New York, NY : , : Springer New York : , : Imprint : Springer, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Molecular Mechanisms Underpinning the Development of Obesity [[electronic resource] /] / edited by Clévio Nóbrega, Raquel Rodriguez-López
| Molecular Mechanisms Underpinning the Development of Obesity [[electronic resource] /] / edited by Clévio Nóbrega, Raquel Rodriguez-López |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (200 p.) |
| Disciplina |
571.6
572 599935 610 |
| Soggetto topico |
Human genetics
Biochemistry Cell biology Human Genetics Biochemistry, general Cell Biology |
| ISBN | 3-319-12766-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Challenges in understanding development of obesity -- Monogenic forms of obesity -- Heterogeneous obesity syndromes: new strategies for diagnosis -- Genetic contribution: common forms of obesity -- The role of the GWAS identified FTO locus in regulating body size and composition -- Neural vulnerability factors that increase risk for weight gain: prevention and treatment implications -- Molecular mechanisms involved in the regulation of food intake -- Epigenetics of human obesity: a link between genetics and nutrition -- MicroRNAs in obesity and metabolism -- Obesity study: animal models -- From Homo obesus to Homo diabesus: neuroadipology insight -- Obesity and type 2 diabetes. |
| Record Nr. | UNINA-9910298327403321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Molecular Origins of Brain and Body Geometry [[electronic resource] ] : Plato's Concept of Reality is Reversed / / by Antonio Lima-de-Faria
| Molecular Origins of Brain and Body Geometry [[electronic resource] ] : Plato's Concept of Reality is Reversed / / by Antonio Lima-de-Faria |
| Autore | Lima-de-Faria Antonio |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (188 p.) |
| Disciplina |
128.2
570 591.35 599935 |
| Soggetto topico |
Animal genetics
Philosophy of mind Human genetics Animal Genetics and Genomics Philosophy of Mind Human Genetics |
| ISBN | 3-319-06056-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction -- Part I: The Skeleton - the Primary Structure that Sets Vertebrates Apart - is an Evasive Structure -- Well-Defined Geometric Patterns Appeared in Animal Evolution Independently of the Skeleton -- Astonishing Gene Permanence throughout Vertebrates and the Origin of the Skeleton -- Some of the Most Important External Organs in Mammals have no Skeleton -- Body Geometry Follows the Skeleton only Partially -- Part II: The Geometry of the Vertebrate Body Takes the Form of Parallel Stripes and Concentric Circles which are the Products of Molecular Cascades -- Longitudinal and Transversal Stripes in Vertebrates -- The Geometric Patterns of Zebras and of Transgenic Mice are Directed by Specific Genes - the Geometry of Mammals Becomes Also Molecular -- The Eye - a Main Center of Circularity with Implications for Development and Evolution -- The Circularity of the Vertebrate Body -- Concentric Circles are a General Feature of Vertebrates -- Two Poles of Circularity: Head-Neck and Rump -- Part III: Geometry - an Obsession of the Animal and Human Minds -- Science from its Onset to the Present has been Pervaded by Geometry -- Spirals Produced by Inert Matter as well as by Spiders and Humans -- Hexagons Formed by Molecules and by the Minds of Wasps and Humans -- Part IV: The Mind Consists of the Same Matter that has Displayed Order and Coherence throughout its Evolution -- It may Sound Outrageous but the Human Condition Appears to be Anchored in the Organization of Galaxies -- The Evolution of Matter is Characterized by Geometry and Permanence -- Self-Assembly - the Primary Source of Coherence -- Part V: The Brain has its Own Geometry and is Able to Change the Body’s Geometry in Seconds -- The Presence of Chromosomes is not Obligatory for Brain Function Brain, Eye, Blood and Skin Cells Work Efficiently without a Nucleus -- The Ordered Origin of the Brain -- The Brain Turns Out to have its Own Geometry -- Left and Right Side, of the Body and of the Brain, are not Mirror Images and Behave Independently -- How the Brain Changes the Body Geometry at Will -- Part VI: The Brain is an Unreliable Magician -- The Concept of Soul Became Evident Following the Agricultural Revolution 8,000 B.C -- How it Changed Since Then -- Brain Imagery - Visual Perception of Form, Color and Motion -- The Dream - Another Form of Brain Imagery -- Plato had no Electron Microscope - Molecular Geometry Reverses his Concept of Reality. |
| Record Nr. | UNINA-9910298338603321 |
|
Lima-de-Faria Antonio
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| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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