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Record Nr. |
UNINA9910673906903321 |
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Autore |
Butler Merlin G. |
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Titolo |
Genetics of Prader-Willi syndrome / / Merlin G. Butler, David E. Godler |
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Basel : , : MDPI - Multidisciplinary Digital Publishing Institute, , 2022 |
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Descrizione fisica |
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1 online resource (224 pages) |
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Monografia |
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Nota di contenuto |
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About the Editors -- Special Issue: Genetics of Prader-Willi Syndrome -- Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata -- Venous Thromboembolism in Prader-Willi Syndrome: A Questionnaire Survey -- The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics -- Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities -- Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular Reference to Prader-Willi Syndrome -- Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader-Willi Syndrome -- Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion -- Food and Non-Food-Related Behavior across Settings in Children with Prader-Willi Syndrome -- Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome -- The Potential Role of Activating the ATP-Sensitive Potassium Channel in the Treatment of Hyperphagic Obesity -- Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome -- The Gut Microbiota Profile in Children with Prader-Willi Syndrome -- A 24-Week Physical Activity Intervention Increases Bone Mineral Content without Changes in Bone Markers in Youth with PWS -- Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome -- Pharmacogenetic Testing of Cytochrome P450 Drug Metabolizing Enzymes in a Case Series of Patients with Prader-Willi Syndrome. |
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Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated with hormone therapy and restricted diet, if detected early. PWS is usually caused by the loss of the paternally inherited 15q11.2-q13 region and abnormal expression of genes within that region and beyond. While some genotype-phenotype correlations with delineation of clinical characteristics and natural history have emerged when comparing the three main molecular classes of PWS (maternal uniparental disomy (UPD) 15, imprinting centre defect, and deletion of paternal 15q11-q13), better awareness and informative biomarkers are still needed. These could facilitate early diagnosis, counseling, prognostic testing, as well as patient stratification for clinical trials, to improve outcomes for the affected children and their families. This Special Issue will comprise reviews and original research articles focused on the recent advances of genetics/genomics, testing, and epigenetic processes along with clinical description, co-morbidities, and natural history of PWS. Current and future directions with focus on improved screening, diagnosis, and treatment will be addressed in this rare neurodevelopmental genetic imprinting disorder influenced by the PWS genetic subtypes. |
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2. |
Record Nr. |
UNINA9910787934403321 |
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Titolo |
Synopsis purioris theologiae = Synopsis of a purer theology . Volume 1 Disputations 1-23 / / volume edititor, Dolf te Velde ; translator, Riemer A. Faber ; editor, Latin text, Rein Ferwerda ; general editors, Willem J. van Asselt, William den Boer, Riemer A. Faber |
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Pubbl/distr/stampa |
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Leiden, Netherlands : , : Brill, , 2015 |
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©2015 |
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Descrizione fisica |
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1 online resource (675 p.) |
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Collana |
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Studies in Medieval and Reformation Traditions, , 1573-4188 ; ; Volume 187 |
Texts & Sources, , 1573-4188 ; ; Volume 5 |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references and index. |
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Front Matter / Dolf te Velde -- Introduction / Dolf te Velde -- Praefatio Ad Illustrissimos, Potentissimosque Hollandiae Westfrisiaeque Ordines. / Dolf te Velde -- De Sacrosancta Theologia / Dolf te Velde -- De Sacrae Scripturae Necessitate et Auctoritate / Dolf te Velde -- De Libris Canonicis et Apocryphis / Dolf te Velde -- De Sacrae Scripturae perfectione, et inutili traditionum non scriptarum ad eam adjectione / Dolf te Velde -- De Sacrae Scripturae Perspicuitate et Interpretatione / Dolf te Velde -- De natura Dei et divinis attributis / Dolf te Velde -- De Sacrosancta Trinitate / Dolf te Velde -- De Persona Patris et Filii / Dolf te Velde -- De Persona Spiritus Sancti / Dolf te Velde -- De Mundi Creatione / Dolf te Velde -- De Providentia Dei / Dolf te Velde -- De Angelis Bonis ac Malis / Dolf te Velde -- De Homine ad imaginem Dei creato / Dolf te Velde -- De Lapsu Adami / Dolf te Velde -- De Peccato Originali / Dolf te Velde -- De Peccato Actuali / Dolf te Velde -- De Libero Arbitrio / Dolf te Velde -- De Lege Dei / Dolf te Velde -- De Idololatria / Dolf te Velde -- De Juramento / Dolf te Velde -- De Sabbatho et die Dominico / Dolf te Velde -- De Evangelio / Dolf te Velde -- De Veteri et Novo Testamento / Dolf te Velde -- Glossary of Concepts and Terms / Dolf te Velde -- Bibliography / Dolf te Velde -- |
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This bilingual edition of the Synopsis Purioris Theologiae (1625) makes available for the first time to English readers a seminal treatise of Reformed Scholasticism. Composed by four professors of Leiden University (Johannes Polyander, Andreas Rivetus, Antonius Walaeus, and Anthonius Thysius) , it gives an exhaustive yet concise presentation of Reformed theology as it was conceived in the first decades of the seventeenth century. From a decidedly Reformed perspective, the Christian doctrine is defined in contrast with alternative or opposite views (Catholic, Spiritualist, Arminian, Socinian). Both on the academic level and on the ecclesiastical level, the Synopsis responds to challenges coming from the immediate context of the early seventeenth century. The disputations of this first volume cover topics such as Scripture, doctrine of God, Trinity, creation, sin, Law and Gospel. Volume One was published in 2014, Volume Two came out in 2016. Volume Three, the final volume, is expected late 2019. |
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