Relevant bibliographies by topics / Aspetti monogenici

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Aspetti monogenici'

Author: Grafiati
Published: 11 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Aspetti monogenici"

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De Rycke, M. "C2 PGD for monogenic diseases: Molecular aspects." Reproductive BioMedicine Online 20 (May 2010): S1. http://dx.doi.org/10.1016/s1472-6483(10)62256-0.

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Spits, Claudia, and Karen Sermon. "PGD for monogenic disorders: aspects of molecular biology." Prenatal Diagnosis 29, no. 1 (2008): 50–56. http://dx.doi.org/10.1002/pd.2161.

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Murphy, Rinki. "Monogenic diabetes and pregnancy." Obstetric Medicine 8, no. 3 (2015): 114–20. http://dx.doi.org/10.1177/1753495x15590713.

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Monogenic diabetes is frequently mistakenly diagnosed as either type 1 or type 2 diabetes, yet accounts for approximately 1–2% of diabetes. Identifying monogenic forms of diabetes has practical implications for specific therapy, screening of family members and genetic counselling. The most common forms of monogenic diabetes are due to glucokinase ( GCK), hepatocyte nuclear factor ( HNF) -1A and HNF-4A, HNF-1B, m.3243A>G gene defects. Practical aspects of their recognition, diagnosis and management are outlined, particularly as they relate to pregnancy. This knowledge is important for all ph
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Peterkova, V. A., T. L. Kuraeva, S. A. Prokof’ev, et al. "MOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUS." Annals of the Russian academy of medical sciences 67, no. 1 (2012): 81–86. http://dx.doi.org/10.15690/vramn.v67i1.115.

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The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of young (MODY), DIDMOAD-syndrome, Wolframe syndrome, Alstrom syndrome and its determinating genes. The analysis of proper clinical results are present in this paper.
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Lachance, Carl-Hugo. "Practical Aspects of Monogenic Diabetes: A Clinical Point of View." Canadian Journal of Diabetes 40, no. 5 (2016): 368–75. http://dx.doi.org/10.1016/j.jcjd.2015.11.004.

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Morais, J., H. T. Le та W. Sprößig. "On some constructive aspects of monogenic function theory in ℝ4". Mathematical Methods in the Applied Sciences 34, № 14 (2011): 1694–706. http://dx.doi.org/10.1002/mma.1474.

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Kuchinskaya, E. M., E. N. Suspitsyn, and M. M. Kostik. "Genetic aspects of the pathogenesis of systemic lupus erythematosus in children." Modern Rheumatology Journal 14, no. 1 (2020): 101–7. http://dx.doi.org/10.14412/1996-7012-2020-1-101-107.

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The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes. It describes groups of diseases, such as apoptotic defects; NETosis; interferonopathies; complement deficiency; autotolerance disorders associated with mutations in the RAG1/RAG2 genes; hereditary metabolic diseases (prolidase deficiency, deficiency of adenosine deaminase 2; lysinuric protein intolerance; and α-mannosidase deficiency). The table summarizes clinical data on most of the known lupus-like syndromes and thei
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Ballabio, E., A. Bersano, N. Bresolin, and L. Candelise. "Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach." Journal of Cerebral Blood Flow & Metabolism 27, no. 10 (2007): 1649–62. http://dx.doi.org/10.1038/sj.jcbfm.9600520.

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The identification of stroke cases caused by monogenic disorders is important both for therapeutic decisions and genetic counselling, although they represent less than 1% of all stroke patients. The purpose of this review is to summarize genetic, pathological, and clinical features of single-gene disorders related to ischemic stroke. The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheliopath
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Tesser, Alessandra, Alessia Pin, Elisabetta Mencaroni, Virginia Gulino, and Alberto Tommasini. "Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain." International Journal of Environmental Research and Public Health 18, no. 11 (2021): 5585. http://dx.doi.org/10.3390/ijerph18115585.

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More and more findings suggest that neurological disorders could have an immunopathological cause. Thus, immune-targeted therapies are increasingly proposed in neurology (even if often controversial), as anakinra, inhibiting IL-1 for febrile inflammatory illnesses, and JAK inhibitors for anti-interferons treatment. Precision medicine in neurology could be fostered by a better understanding of the disease machinery, to develop a rational use of immuno-modulators in clinical trials. In this review, we focus on monogenic disorders with neurological hyper-inflammation/autoimmunity as simplified “m
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Orlando, Francesca, Germana Nardini, and Daniele De Brasi. "Le malattie autoinfiammatorie: aspetti patogenetici e clinici (Prima parte)." QUADERNI ACP 29, no. 3 (2022): 128. http://dx.doi.org/10.53141/qacp.2022.128-132.

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Autoinflammatory diseases (AIDs) are a family of rare medical entities, characterized by sterile systemic inflammatory episodes caused by exaggerated activation of the innate immune system, for which the pathogenic role of autoantibodies, B or T cells is less relevant. During the past 20 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. Proteins encoded by these genes are involved in the regulatory pathways of inflammation and they are mostly expressed in cells of the innate immune system. Since symptoms can overla
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Dissertations / Theses on the topic "Aspetti monogenici"

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Girardelli, Martina, and Martina Girardelli. "Ricerca di nuove varianti geniche associate alle malattie infiammatorie croniche intestinali." Doctoral thesis, Università degli studi di Trieste, 2015. http://hdl.handle.net/10077/10849.

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2013/2014<br>2013/2014<br>Le malattie infiammatorie croniche intestinali (MICI), sono un gruppo di malattie eterogenee ad eziologia multifattoriale. Sono caratterizzate da uno stato infiammatorio a carico della mucosa del tratto gastrointestinale e comprendono il Morbo di Crohn (MC), la Rettocolite ulcerosa (RCU) e la Colite indeterminata (CI) i cui quadri istopatologici differiscono tra loro per tipo di lesione, localizzazione della malattia e complicanze associate. Le MICI insorgono tipicamente durante l’adolescenza o in età adulta come il risultato della combinazione di tutti i fattori pred
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Choquet, Hélène. "Contribution du gène PCSK1 aux formes monogéniques et polygéniques d’obésité." Thesis, Lille 2, 2010. http://www.theses.fr/2010LIL2S012/document.

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Quatre études de liaison génome entier ont mis en évidence une région commune de5,6 Mb dans la région du chromosome 5q15 liée à des traits associés à l’obésité, cette région incluant le gène de la prohormone convertase 1 (PCSK1). Une mutation Pc1 chez la souris a été associée à l’obésité, l’hyperphagie et à une augmentation de l’efficacité du métabolisme. La déficience complète en PCSK1 a été associée à une forme récessive rare d’obésité chezl’homme, et depuis 1997 seuls trois patients présentant cette déficience ont été décrits dans la littérature. Les porteurs de mutations délétères PCSK1 pr
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Duclaux-Loras, Rémi. "Identification of two new genes causative of monogenic intestinal disorders Deficient function of the UNC45A-HSP90 chaperone complex impairs MYO5B expression in enterocytes and causes microvillus inclusion disease Biallelic loss-of-function mutations in IPO8 cause Loeys-Dietz-like syndrome and severe developmental defects in zebrafish." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCB087.

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L'équipe de recherche, au sein de laquelle je réalise ma thèse, s'attache à disséquer les maladies génétiques mendéliennes responsables de pathologies intestinales sévères. L'étude de ces maladies présente deux objectifs. D'une part, étudier au plan moléculaire les mécanismes constituants la barrière intestinale. D'autre part, proposer de nouveaux diagnostics aux patients mais également évaluer de nouvelles cibles thérapeutiques. Ainsi, j'ai participé dans un premier temps à l'étude de données obtenues par séquençage de gênes cibles (Targeted Next Generation Sequencing) au sein d'une cohorte d
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Redin, Claire. "NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders." Thesis, Strasbourg, 2014. http://www.theses.fr/2014STRAJ129/document.

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Certaines maladies héréditaires monogéniques sont caractérisées par une grande hétérogénéité génétique. Chez des individus présentant un phénotype clinique similaire, les mutations causales peuvent être retrouvées dans un des gènes parmi un sous-ensemble décrits comme impliqués dans la maladie. Cette hétérogénéité génétique limite considérablement les offres diagnostiques pour les patients, et une majorité reste sans diagnostic moléculaire. Nous avons développé une approche diagnostique alternative par séquençage à haut débit ciblé (ciblant spécifiquement les régions codantes des gènes d’intér
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Books on the topic "Aspetti monogenici"

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Eli, Sprecher, ed. Progress in monogenic hair disorders. Nova Science Publishers, 2005.

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Brown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2010.

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Brown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2015.

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Pezzini, Alessandro. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198722366.003.0011.

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Ischaemic stroke is a heterogeneous multifactorial disorder. Although epidemiological data from twin and family studies provide substantial evidence for a genetic basis for stroke, the contribution of genetic factors identified so far is small. Large progress has been made in single-gene disorders associated with ischaemic stroke, particularly at young age. By contrast, little is known about the genes associated with multifactorial stroke. The reported genome-wide association studies of ischaemic stroke have shown that no single common genetic variant imparts major risk, but data on early-onse
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Lennon, Rachel, and Neil Turner. The molecular basis of glomerular basement membrane disorders. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0320_update_001.

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The glomerular basement membrane (GBM) is a condensed network of extracellular matrix molecules which provides a scaffold and niche to support the function of the overlying glomerular cells. Within the glomerulus, the GBM separates the fenestrated endothelial cells, which line capillary walls from the epithelial cells or podocytes, which cover the outer aspect of the capillaries. In common with basement membranes throughout the body, the GBM contains core components including collagen IV, laminins, nidogens, and heparan sulphate proteoglycans. However, specific isoforms of these proteins are r
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Brown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2016.

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Brown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2015.

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Brown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2010.

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Brown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2015.

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Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2010.

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Book chapters on the topic "Aspetti monogenici"

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Borstlap, A. C. "Tobacco mutants of amino acid membrane transport: Uptake of L-valine in leaf discs from the double mutant Valr-2 and its monogenic derivatives." In Fundamental, Ecological and Agricultural Aspects of Nitrogen Metabolism in Higher Plants. Springer Netherlands, 1986. http://dx.doi.org/10.1007/978-94-009-4356-8_15.

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Raeder, Helge, Silje Rafaelsen, and Robert Bjerknes. "Monogenic Phosphate Balance Disorders." In Contemporary Aspects of Endocrinology. InTech, 2011. http://dx.doi.org/10.5772/17841.

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Markus, Hugh S. "Useful web sites for stroke genetics." In Stroke Genetics. Oxford University PressOxford, 2003. http://dx.doi.org/10.1093/oso/9780198515869.003.0014.

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Abstract The World Wide Web offers access to a large number of sites relevant to both research and clinical aspects of stroke genetics. A number useful for research studies are covered in Chapter 2. The ones listed below are primarily of use to the clinician looking after patients with monogenic stroke disorders, and to the patients themselves.
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Maheshwari, Atul. "Attention-Deficit Disorders and Epilepsy." In Jasper's Basic Mechanisms of the Epilepsies, 5th ed., edited by Jeffrey L. Noebels. Oxford University PressNew York, 2024. http://dx.doi.org/10.1093/med/9780197549469.003.0058.

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Abstract Attention-deficit/hyperactivity disorder (ADHD) is a common comorbidity in patients with epilepsy. A polygenic predisposition likely interacts with environmental factors to determine the ultimate likelihood and severity of comorbid attention deficits. Epilepsy syndromes such as Dravet syndrome, juvenile myoclonic epilepsy, childhood absence epilepsy, and fragile X syndrome all have a high prevalence of ADHD. Many of these epilepsy syndromes are associated with monogenic mutations that have been implicated in inhibitory neurotransmission (Scn1a, GABRA1, Cacna1a, SNAP25, and FMR1, respe
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Frise, Charlotte, and Sally Collins. "Diabetes mellitus." In Obstetric Medicine. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198821540.003.0011.

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This chapter covers all issues of diabetes mellitus in relation to pregnancy. Type 1 and type 2 diabetes are defined, alongside gestational and monogenic diabetes. Advice for the pregnant patient with diabetes is given for every stage, from preconception to ante- and postnatal care. Practical aspects such as target capillary glucose levels, glucose monitoring, and types of insulin are all described. Complications and emergencies, including hypoglycaemia and diabetic ketoacidosis, are also explained, along with their management.
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Owen, Katharine R. "Diagnosis of Non Type 1, Non Type 2 Forms of Diabetes." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0249.

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Diabetes that is neither type 1 nor type 2 in aetiology accounts for around 5% of cases, with a wide range of causes. The widest differential diagnosis is in the young adult group. Non-type 1/type 2 diabetes includes monogenic causes of both beta-cell dysfunction (MODY, neonatal diabetes, mitochondrial diabetes) and insulin resistance (lipodystrophy, insulin receptor defects and monogenic obesity), as well as pancreatic, endocrine, and syndromic causes. It is important to make the correct aetiological diagnosis as this is likely to affect treatment and other aspects of management as well as de
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Chebib, Fouad T., and Vicente E. Torres. "Cystic Kidney Diseases." In Kidney Protection, edited by Vijay Lapsia, Bernard G. Jaar, and A. Ahsan Ejaz. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190611620.003.0038.

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Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease, is characterized by relentless development of kidney cysts, hypertension, and eventually end-stage renal disease. The enlargement of the bilateral kidney cysts is gradual throughout the lifetime of the patient until little renal parenchyma is recognizable. At that stage, the average rate of GFR decline is 4.4 to 5.9 mL/min/year. Over the past few years, several advancements in diagnosing, prognosticating, and understanding the pathogenesis of the disease have been made. The natural course of ADPKD m
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Weatherall, David. "Red Blood Cell Genes and Malaria." In Genetic Susceptibility to Infectious Diseases. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195174908.003.0008.

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Abstract Because malaria has long been and continues to be one of the major killers of mankind, and because these parasites spend a critical period of their complex life cycles within red blood cells, it is not surprising that genetic variation in the structure or function of these cells that is deleterious to the parasite has come under intense selection. Indeed, there is now very strong evidence that selective evolutionary pressure of this kind explains why the genetic disorders of the red cell are by far the most common monogenic diseases in man. This chapter briefly describes the common in
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"Introduction." In Atypical Diabetes: Pathophysiology, Clinical Presentations, and Treatment Options. American Diabetes Association, 2018. http://dx.doi.org/10.2337/9781580406666.intro.

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Classification of diabetes includes a long list of common, rare, and not-so-rare conditions characterized by hyperglycemia of variable degrees. Whereas the majority of patients with diabetes are easily classified as having type 1 or type 2 diabetes, the other forms of diabetes, in aggregate, account for approximately 10% of diabetes cases. These cases may be grouped under the umbrella of rare forms of diabetes or “atypical diabetes.” Even though individually rare, these atypical types of diabetes are frequent enough that every practitioner is likely to encounter such cases in his or her practi
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"Part I: Case Studies." In Atypical Diabetes: Pathophysiology, Clinical Presentations, and Treatment Options. American Diabetes Association, 2018. http://dx.doi.org/10.2337/9781580406666.parti.

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These 22 cases illustrate both the most important examples of monogenic diabetes and the difficulties in making a diagnosis as well as in obtaining genetic analysis. The most important aspect to recognize is when there is an actionable outcome to making a specific diagnosis. This includes both a change in therapy and the recognition that many of these conditions are dominantly inherited, so there likely will be more individuals, sometimes many more, to consider in the impact of making a genetic diagnosis. In some cases, the impact can be immediate and profound, such as in the use of sulfonylur
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Conference papers on the topic "Aspetti monogenici"

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Georgiev, S., J. Morais, Theodore E. Simos, George Psihoyios, Ch Tsitouras, and Zacharias Anastassi. "On Convergence Aspects of Spheroidal Monogenics." In NUMERICAL ANALYSIS AND APPLIED MATHEMATICS ICNAAM 2011: International Conference on Numerical Analysis and Applied Mathematics. AIP, 2011. http://dx.doi.org/10.1063/1.3637753.

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