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Articoli di riviste sul tema "Genetic disorders"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 29 luglio 2024

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1

RUTTER, MICHAEL. "Pathways of genetic influences on psychopathology". European Review 12, n. 1 (febbraio 2004): 19–33. http://dx.doi.org/10.1017/s1062798704000031.

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Quantitative genetics, using data from twin and adoptee studies, has shown substantial genetic influences on all forms of psychiatric disorder; however, with just a few exceptions, the evidence indicates that the disorders are multifactorial, with influences that are both genetic and environmental. In recent years, molecular genetics has begun to identify individual susceptibility genes; examples are given for schizophrenia, attention deficit/hyperactivity disorder, and Alzheimer's disease. Both quantitative and molecular genetics have shown the importance of gene-environment interplay with respect to the commoner disorders of emotions and behaviour. In particular, it has been found that genetic influences moderate people's vulnerability to environmental risks. Five main alternative routes by which genes indirectly (via their effects on proteins) lead to multifactorial psychiatric disorders are described. Four main research issues are highlighted: the fuller delineation of the mechanisms involved in nature–nurture interplay and its role in aetiology; determination of how genes play a role in the neural underpinning of psychiatric disorders; identification of the ways in which genes suggest a dissection of disorders; and an understanding of the role of risk dimensions and disorder dimensions.

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Souery, D., I. Massat e J. Mendlewicz. "Genetics of bipolar disorders". Acta Neuropsychiatrica 12, n. 3 (settembre 2000): 65–68. http://dx.doi.org/10.1017/s0924270800035420.

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ABSTRACTAdvances towards the understanding of the etiological mechanisms involved in mood disorders provide interesting yet diverse hypotheses and promising models. In this context, molecular genetics has now been widely incorporated into genetic epidemiological research in psychiatry. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome, specific hypotheses such as mutations have also been studied. Most recent studies indicate that several chromosomal regions may be involved in the aetiology of BPAD. Other studies have reported the presence of anticipation in BPAD. This phenomenon describes the increase in clinical severity and decrease in age of onset observed in successive generations. This mode of transmission correlates with the presence of specific mutations (Trinucleotide Repeat Sequences) and may represent a genetic factor involved in the transmission of the disorder. In parallel to these new developments in molecular genetics, the classical genetic epidemiology, represented by twin, adoption and family studies, provided additional evidence in favour of the genetic hypothesis in mood disorders. Moreover, these methods have been improved through models to test the gene-environment interactions. While significant advances have been made in this major field of research, it appears that integrative models, taking into account the interactions between biological (genetic) factors and social (psychosocial environment) variables offer the most reliable way to approach the complex mechanisms involved in the etiology and outcome of mood disorders.

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Pinheiro, Andréa Poyastro, Patrick F. Sullivan, Josue Bacaltchuck, Pedro Antonio Schmidt do Prado-Lima e Cynthia M. Bulik. "Genetics in eating disorders: extending the boundaries of research". Revista Brasileira de Psiquiatria 28, n. 3 (9 agosto 2006): 218–25. http://dx.doi.org/10.1590/s1516-44462006005000004.

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OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa and bulimia nervosa. Genetic research with admixed populations should take into consideration sample size, density of genotyping and population stratification. Through admixture mapping it is possible to study the genetic structure of admixed human populations to localize genes that underlie ethnic variation in diseases or traits of interest. CONCLUSIONS: The development of a major collaborative genetics initiative of eating disorders in Brazil and South America would represent a realistic possibility of studying the genetics of eating disorders in the context of inter ethnic groups, and also integrate a new perspective on the biological etiology of eating disorders.

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Mokhtar, M. M., S. M. Kotb e S. R. Ismail. "Autosomal recessive disorders among patients attending the genetics clinic in Alexandria". Eastern Mediterranean Health Journal 4, n. 3 (15 maggio 1998): 470–79. http://dx.doi.org/10.26719/1998.4.3.470.

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A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01] A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]

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Domschke, K. "Genetics in anxiety disorders - an update". European Psychiatry 26, S2 (marzo 2011): 2097. http://dx.doi.org/10.1016/s0924-9338(11)73800-7.

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Twin studies propose a strong genetic contribution to the pathogenesis of anxiety disorders with a heritability of about 50%. The dissection of the complex-genetic underpinnings of anxiety disorders requires a multi-level approach using molecular genetic, imaging genetic, (cognitive)-behavioral genetic and pharmacogenetic techniques linking basic and clinical research.The present talk will first give an overview of results from linkage and association studies yielding support for several candidate genes contributing to the genetic risk for anxiety and panic disorder in particular such as the adenosine 2A receptor, the catechol-O-methyltransferase, the neuropeptide S receptor and the serotonin receptor 1A genes. Results from the first genome-wide association studies in the field of anxiety disorders will be discussed. Additionally, studies on gene-environment interactions between anxiety disorder risk variants and environmental factors will be presented. Imaging genetics approaches have yielded evidence for several risk genes to crucially impact activation in brain regions critical for emotional processing. Gene variation has furthermore been found to potentially confer an increased risk for panic disorder via elevated autonomic arousal and dysfunctional cognitions regarding bodily sensations. Finally, there is first evidence for genetic variants impacting treatment response to antidepressant pharmacotherapy in anxiety disorders.Thus, converging lines of evidence will be presented for several candidate genes of anxiety to exert an increased disease risk potentially via a distorted cortico-limbic interaction during emotional processing, increased physiological arousal or dysfunctional cognition. Additionally, a possible impact of genetic variants on pharmacoresponse in anxiety disorders and its potential clinical implications will be discussed.

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Keller, Matthew C., e Geoffrey Miller. "Resolving the paradox of common, harmful, heritable mental disorders: Which evolutionary genetic models work best?" Behavioral and Brain Sciences 29, n. 4 (agosto 2006): 385–404. http://dx.doi.org/10.1017/s0140525x06009095.

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Given that natural selection is so powerful at optimizing complex adaptations, why does it seem unable to eliminate genes (susceptibility alleles) that predispose to common, harmful, heritable mental disorders, such as schizophrenia or bipolar disorder? We assess three leading explanations for this apparent paradox from evolutionary genetic theory: (1) ancestral neutrality (susceptibility alleles were not harmful among ancestors), (2) balancing selection (susceptibility alleles sometimes increased fitness), and (3) polygenic mutation-selection balance (mental disorders reflect the inevitable mutational load on the thousands of genes underlying human behavior). The first two explanations are commonly assumed in psychiatric genetics and Darwinian psychiatry, while mutation-selection has often been discounted. All three models can explain persistent genetic variance in some traits under some conditions, but the first two have serious problems in explaining human mental disorders. Ancestral neutrality fails to explain low mental disorder frequencies and requires implausibly small selection coefficients against mental disorders given the data on the reproductive costs and impairment of mental disorders. Balancing selection (including spatio-temporal variation in selection, heterozygote advantage, antagonistic pleiotropy, and frequency-dependent selection) tends to favor environmentally contingent adaptations (which would show no heritability) or high-frequency alleles (which psychiatric genetics would have already found). Only polygenic mutation-selection balance seems consistent with the data on mental disorder prevalence rates, fitness costs, the likely rarity of susceptibility alleles, and the increased risks of mental disorders with brain trauma, inbreeding, and paternal age. This evolutionary genetic framework for mental disorders has wide-ranging implications for psychology, psychiatry, behavior genetics, molecular genetics, and evolutionary approaches to studying human behavior.

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Souery, D., e J. Mendlewicz. "New molecular genetic findings in the genetics of affective disorders". Acta Neuropsychiatrica 9, n. 2 (giugno 1997): 52–54. http://dx.doi.org/10.1017/s0924270800036784.

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Abstract (sommario):

Molecular genetics has now been widely incorporated into genetic epidemiological research in psychiatry. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome. Specific hypotheses such as mutations have also been studied. Most recent studies indicate that several chromosomal regions may be involved in the aetiology of BPAD. These include genes on chromosomes 18, 21, 4, 5, 11 and X. Other studies have reported the presence of anticipation in BPAD and in unipolar affective disorder (UPAD). This phenomenon describes the increase in clinical severity and decrease in age of onset observed in successive generations. This mode of transmission correlates with the presence of specific mutations (trinucleotide repeat sequences). Associations with these mutations have been reported in different populations of BPAD-patients and may represent a genetic factor involved in the transmission of the disorder.These findings are all preliminary and require to be confirmed. Large multi-centres and multi-disciplinary projects are currently underway in Europe and in the US and hopefully will improve our understanding of the genetic factors involved in affective disorders. In addition, genetic approaches used in psychiatry are being combined with an assessment of non-genetic susceptibility factors. The investigation of interactions between gene and environment is one of the most promising areas dealing with complex multi-factorial diseases such as the affective disorders.

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Souery, D., e J. Mendlewicz. "Molecular genetic findings in mood disorders". Acta Neuropsychiatrica 11, n. 2 (giugno 1999): 67–70. http://dx.doi.org/10.1017/s092427080003619x.

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Traditional methods used to asses genetic effects, such as twins, adoption and family studies, have demonstrated the role genetic vulnerability factors in the etiology of major psychiatric diseases such as affective disorders and schizophrenia. It remains however impossible, using these methods, to specify the genetic variables involved and the exact mode of transmission of these diseases. New genetic approaches in psychiatry include the use of DNA markers in sophisticated strategies to examine families and populations. Genetic linkage (in families) and allelic association (in unrelated subjects) are the most frequent techniques applied searching for genes in psychiatric diseases. Advances in these methods have permitted their application to complex diseases in which the mode of genetic transmission is unknown. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome, specific hypotheses such as mutations have also, been studied. Most recent studies indicate that several chromosomal regions may be involved in the aetiology of affective disorders. Large multi-centre and multi-disciplinary projects are currently underway in Europe and in the US and hopefully will improve our understanding of the genetic factors involved in affective disorders. In parallel to these new developments in molecular genetics, the classical genetic epidemiology, represented by twin, adoption and family studies, have been improved, providing validated models to test the gene-environment interactions.

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Radonjić, Nevena V., Jonathan L. Hess, Paula Rovira, Ole Andreassen, Jan K. Buitelaar, Christopher R. K. Ching, Barbara Franke et al. "Structural brain imaging studies offer clues about the effects of the shared genetic etiology among neuropsychiatric disorders". Molecular Psychiatry 26, n. 6 (17 gennaio 2021): 2101–10. http://dx.doi.org/10.1038/s41380-020-01002-z.

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AbstractGenomewide association studies have found significant genetic correlations among many neuropsychiatric disorders. In contrast, we know much less about the degree to which structural brain alterations are similar among disorders and, if so, the degree to which such similarities have a genetic etiology. From the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) consortium, we acquired standardized mean differences (SMDs) in regional brain volume and cortical thickness between cases and controls. We had data on 41 brain regions for: attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BD), epilepsy, major depressive disorder (MDD), obsessive compulsive disorder (OCD), and schizophrenia (SCZ). These data had been derived from 24,360 patients and 37,425 controls. The SMDs were significantly correlated between SCZ and BD, OCD, MDD, and ASD. MDD was positively correlated with BD and OCD. BD was positively correlated with OCD and negatively correlated with ADHD. These pairwise correlations among disorders were correlated with the corresponding pairwise correlations among disorders derived from genomewide association studies (r = 0.494). Our results show substantial similarities in sMRI phenotypes among neuropsychiatric disorders and suggest that these similarities are accounted for, in part, by corresponding similarities in common genetic variant architectures.

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Dennison, Charlotte A., Sophie E. Legge, Matthew Bracher-Smith, Georgina Menzies, Valentina Escott-Price, Daniel J. Smith, Aiden R. Doherty, Michael J. Owen, Michael C. O’Donovan e James T. R. Walters. "Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank". PLOS ONE 16, n. 3 (26 marzo 2021): e0249189. http://dx.doi.org/10.1371/journal.pone.0249189.

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Levels of activity are often affected in psychiatric disorders and can be core symptoms of illness. Advances in technology now allow the accurate assessment of activity levels but it remains unclear whether alterations in activity arise from shared risk factors for developing psychiatric disorders, such as genetics, or are better explained as consequences of the disorders and their associated factors. We aimed to examine objectively-measured physical activity in individuals with psychiatric disorders, and assess the role of genetic liability for psychiatric disorders on physical activity. Accelerometer data were available on 95,529 UK Biobank participants, including measures of overall mean activity and minutes per day of moderate activity, walking, sedentary activity, and sleep. Linear regressions measured associations between psychiatric diagnosis and activity levels, and polygenic risk scores (PRS) for psychiatric disorders and activity levels. Genetic correlations were calculated between psychiatric disorders and different types of activity. Having a diagnosis of schizophrenia, bipolar disorder, depression, or autism spectrum disorders (ASD) was associated with reduced overall activity compared to unaffected controls. In individuals without a psychiatric disorder, reduced overall activity levels were associated with PRS for schizophrenia, depression, and ASD. ADHD PRS was associated with increased overall activity. Genetic correlations were consistent with PRS findings. Variation in physical activity is an important feature across psychiatric disorders. Whilst levels of activity are associated with genetic liability to psychiatric disorders to a very limited extent, the substantial differences in activity levels in those with psychiatric disorders most likely arise as a consequences of disorder-related factors.

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Bishop, Kathleen Kirk. "Psychosocial Aspects of Genetic Disorders: Implications for Practice". Families in Society: The Journal of Contemporary Social Services 74, n. 4 (aprile 1993): 207–12. http://dx.doi.org/10.1177/104438949307400402.

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Generic disorders can potentially interfere with interpersonal relationships and normal social develop' ment as well as disrupt family life. As scientific and technological advances in medical genetics provide health professionals with a more comprehensive understanding of the origin, implications, and management of genetic disorders, professionals acquire expanded responsibilities. Social workers, who are often involved with individuals and families on a long-term basis, play an instrumental role in helping individuals and families make the necessary emotional and social adjustments following diagnosis of a genetic disease, understand the ramifications of the diagnosis, cope with the accompanying concerns, and find me appropriate services.

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Büki, Gergely, Kinga Hadzsiev e Judit Bene. "Copy Number Variations in Neuropsychiatric Disorders". International Journal of Molecular Sciences 24, n. 18 (5 settembre 2023): 13671. http://dx.doi.org/10.3390/ijms241813671.

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Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved. Previous studies mainly investigated genome-wide significant SNPs to elucidate the cross-disorder and disorder-specific genetic basis of neuropsychiatric disorders. Although copy number variations represent a major source of genetic variations, they are known risk factors in developing a variety of human disorders, including certain neuropsychiatric diseases. In this review, we demonstrate the current understanding of CNVs contributing to liability for schizophrenia, bipolar disorder, and major depressive disorder.

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13

Leonard, J. V. "Genetic Biochemical Disorders". Journal of Medical Genetics 23, n. 4 (1 agosto 1986): 378. http://dx.doi.org/10.1136/jmg.23.4.378.

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Clayton, P. "Genetic Biochemical Disorders". Archives of Disease in Childhood 61, n. 5 (1 maggio 1986): 530. http://dx.doi.org/10.1136/adc.61.5.530-a.

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Bradley, David. "Simplifying genetic disorders". Genome Biology 1 (2000): spotlight—20001005–02. http://dx.doi.org/10.1186/gb-spotlight-20001005-02.

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Galjaard, Hans, e Arnold J. J. Reuser. "Genetic storage disorders". Current Opinion in Pediatrics 1, n. 2 (dicembre 1989): 428–35. http://dx.doi.org/10.1097/00008480-198912000-00029.

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Carey, John C. "Genetic Skin Disorders". American Journal of Human Genetics 62, n. 4 (aprile 1998): 998. http://dx.doi.org/10.1086/301778.

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Maxwell, Peter. "Genetic renal disorders". Medicine 47, n. 8 (agosto 2019): 509–16. http://dx.doi.org/10.1016/j.mpmed.2019.05.007.

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Moss, Celia. "Genetic skin disorders". Seminars in Neonatology 5, n. 4 (novembre 2000): 311–20. http://dx.doi.org/10.1053/siny.2000.0020.

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Irons, Mira, e Harvey L. Levy. "Genetic biochemical disorders". Trends in Genetics 2 (gennaio 1986): 326–27. http://dx.doi.org/10.1016/0168-9525(86)90292-1.

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Donnai, Dian. "Genetic biochemical disorders". Early Human Development 14, n. 2 (ottobre 1986): 164–65. http://dx.doi.org/10.1016/0378-3782(86)90161-1.

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BURGDORF, WALTER. "Genetic Skin Disorders". Pediatric Dermatology 28, n. 6 (20 ottobre 2011): 748. http://dx.doi.org/10.1111/j.1525-1470.2011.01599.x.

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Axelrod, Felicia B. "Genetic Autonomic Disorders". Seminars in Pediatric Neurology 20, n. 1 (marzo 2013): 3–11. http://dx.doi.org/10.1016/j.spen.2012.12.002.

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Paller, Amy S. "Genetic immunodeficiency disorders". Clinics in Dermatology 23, n. 1 (gennaio 2005): 68–77. http://dx.doi.org/10.1016/j.clindermatol.2004.09.011.

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Jay, B. "Genetic Biochemical Disorders". British Journal of Ophthalmology 71, n. 4 (1 aprile 1987): 324. http://dx.doi.org/10.1136/bjo.71.4.324-a.

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Brenton, D. P. "Genetic Biochemical Disorders". Postgraduate Medical Journal 62, n. 732 (1 ottobre 1986): 973. http://dx.doi.org/10.1136/pgmj.62.732.973-a.

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Emery, Alan. "Genetic biochemical disorders". Trends in Biochemical Sciences 11, n. 4 (aprile 1986): 189. http://dx.doi.org/10.1016/0968-0004(86)90140-4.

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Owayes Muaffaq Hamed, Amjad Abdul-hadi Mohammed e Raed Salem Alsaffar. "Genetic Metabolism Disorders in Newborn". International Journal for Research in Applied Sciences and Biotechnology 8, n. 1 (13 gennaio 2021): 77–81. http://dx.doi.org/10.31033/ijrasb.8.1.9.

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Babies with any type of metabolic disorders lack the ability to break down the food well, which may induce too little amino acids, phenylalanine and blood sugar to the body, there are numerous kinds of this disorders, most of babies with a genetic metabolic disease have many mutation in gene that coded an enzyme which results a deficiency in same enzyme are hundreds of these disorders and they were diagnosed by their symptoms and the treatment method. The treatment methods of the metabolic disorder depend on the specific type of disorders, inborn metabolic disease are some-time treated with dietary guidance, and other childcare choices, many hereditary metabolic disease are initially caused by gene mutations and that transferred from parents to offspring.

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Wendt, Frank R., Gita A. Pathak, Daniel S. Tylee, Aranyak Goswami e Renato Polimanti. "Heterogeneity and Polygenicity in Psychiatric Disorders: A Genome-Wide Perspective". Chronic Stress 4 (gennaio 2020): 247054702092484. http://dx.doi.org/10.1177/2470547020924844.

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Genome-wide association studies (GWAS) have been performed for many psychiatric disorders and revealed a complex polygenic architecture linking mental and physical health phenotypes. Psychiatric diagnoses are often heterogeneous, and several layers of trait heterogeneity may contribute to detection of genetic risks per disorder or across multiple disorders. In this review, we discuss these heterogeneities and their consequences on the discovery of risk loci using large-scale genetic data. We primarily highlight the ways in which sex and diagnostic complexity contribute to risk locus discovery in schizophrenia, bipolar disorder, attention deficit hyperactivity disorder, autism spectrum disorder, posttraumatic stress disorder, major depressive disorder, obsessive-compulsive disorder, Tourette’s syndrome and chronic tic disorder, anxiety disorders, suicidality, feeding and eating disorders, and substance use disorders. Genetic data also have facilitated discovery of clinically relevant subphenotypes also described here. Collectively, GWAS of psychiatric disorders revealed that the understanding of heterogeneity, polygenicity, and pleiotropy is critical to translate genetic findings into treatment strategies.

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Bienvenu, O. J., D. S. Davydow e K. S. Kendler. "Psychiatric ‘diseases’ versus behavioral disorders and degree of genetic influence". Psychological Medicine 41, n. 1 (12 maggio 2010): 33–40. http://dx.doi.org/10.1017/s003329171000084x.

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BackgroundPsychiatric conditions in which symptoms arise involuntarily (‘diseases’) might be assumed to be more heritable than those in which choices are essential (behavioral disorders). We sought to determine whether psychiatric ‘diseases’ (Alzheimer's disease, schizophrenia, and mood and anxiety disorders) are more heritable than behavioral disorders (substance use disorders and anorexia nervosa).MethodWe reviewed the literature for recent quantitative summaries of heritabilities. When these were unavailable, we calculated weighted mean heritabilities from twin studies meeting modern methological standards.ResultsHeritability summary estimates were as follows: bipolar disorder (85%), schizophrenia (81%), Alzheimer's disease (75%), cocaine use disorder (72%), anorexia nervosa (60%), alcohol dependence (56%), sedative use disorder (51%), cannabis use disorder (48%), panic disorder (43%), stimulant use disorder (40%), major depressive disorder (37%), and generalized anxiety disorder (28%).ConclusionsNo systematic relationship exists between the disease-like character of a psychiatric disorder and its heritability; many behavioral disorders seem to be more heritable than conditions commonly construed as diseases. These results suggest an error in ‘common-sense’ assumptions about the etiology of psychiatric disorders. That is, among psychiatric disorders, there is no close relationship between the strength of genetic influences and the etiologic importance of volitional processes.

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Andrade, Arturo, Ashton Brennecke, Shayna Mallat, Julian Brown, Juan Gomez-Rivadeneira, Natalie Czepiel e Laura Londrigan. "Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders". International Journal of Molecular Sciences 20, n. 14 (19 luglio 2019): 3537. http://dx.doi.org/10.3390/ijms20143537.

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Psychiatric disorders are mental, behavioral or emotional disorders. These conditions are prevalent, one in four adults suffer from any type of psychiatric disorders world-wide. It has always been observed that psychiatric disorders have a genetic component, however, new methods to sequence full genomes of large cohorts have identified with high precision genetic risk loci for these conditions. Psychiatric disorders include, but are not limited to, bipolar disorder, schizophrenia, autism spectrum disorder, anxiety disorders, major depressive disorder, and attention-deficit and hyperactivity disorder. Several risk loci for psychiatric disorders fall within genes that encode for voltage-gated calcium channels (CaVs). Calcium entering through CaVs is crucial for multiple neuronal processes. In this review, we will summarize recent findings that link CaVs and their auxiliary subunits to psychiatric disorders. First, we will provide a general overview of CaVs structure, classification, function, expression and pharmacology. Next, we will summarize tools to study risk loci associated with psychiatric disorders. We will examine functional studies of risk variations in CaV genes when available. Finally, we will review pharmacological evidence of the use of CaV modulators to treat psychiatric disorders. Our review will be of interest for those studying pathophysiological aspects of CaVs.

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Goh, Eyleen. "Rett syndrome: a sex-biased neurodevelopmental disorder". Biochemist 39, n. 1 (1 febbraio 2017): 30–33. http://dx.doi.org/10.1042/bio03901030.

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Decades of research on neurodevelopmental disorders have focused on genetics. Although there has been significant progress, the aetiology of many neurodevelopmental disorders still remains unknown. Deciphering genetic sequences of the whole genome can identify disease-causing mutations in individuals. However, the same genetic sequences do not necessarily result in similar gene expression profiles, or the consequential biochemical profiles in every cell and in all individuals. In particular, studies have shown that differential biochemical profiles in males and females, possibly play a role in neurodevelopmental disorders being biased towards a different gender. Interestingly, autism spectrum disorder (ASD) is biased towards boys although it is not an X-linked disorder, whereas Rett syndrome, an ASD-related disorder where the disease-causing gene is located on the X-chromosome, is found almost exclusively in girls.

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Kendler, K. S., e J. Myers. "The boundaries of the internalizing and externalizing genetic spectra in men and women". Psychological Medicine 44, n. 3 (11 aprile 2013): 647–55. http://dx.doi.org/10.1017/s0033291713000585.

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BackgroundThe distribution and co-morbidity of common psychiatric disorders can be largely explained as manifestations of two broad psychopathological spectra of internalizing and externalizing disorders. Twin studies suggest that these spectra arise from genetic factors.MethodStructural equation twin modeling was applied to interview and questionnaire data on personality traits and lifetime psychiatric disorders on more than 5300 members of male–male (MM) and female–female (FF) twin pairs.ResultsThe best-fitting models for both the externalizing and internalizing spectra differed significantly in males and females. In males, the externalizing genetic common factor was best indexed by four disorders in the following order: antisocial personality disorder (ASPD), drug abuse/dependence (DAD), alcohol abuse dependence (AAD) and conduct disorder (CD). In females, the four disorders most closely related to the externalizing common factor were, in order: DAD, AAD, nicotine dependence (ND) and ASPD. Personality traits of novelty seeking (NS) and extraversion (E) better indexed the genetic externalizing spectrum in females than in males. In both males and females, major depression (MD) and generalized anxiety disorder (GAD) best indexed the genetic internalizing common factor. Panic disorder (PD) and agoraphobia (AgP) better reflected the internalizing genetic common factor in women, and neuroticism (N) in men. Genetic correlations between the two spectra were estimated at + 0.53 in males and + 0.52 in females.ConclusionsThe disorders that optimally index the genetic liability to externalizing and internalizing disorders in the general population differ meaningfully in men and women. In both sexes, these genetic spectra are better assessed by psychiatric disorders than by personality traits.

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Rudin, I. V. "SPEECH DISORDERS OF GENETIC ORIGIN IN TEACHING PRACTICE". Education & Pedagogy Journal, n. 1(1) (6 luglio 2021): 56–63. http://dx.doi.org/10.23951/2782-2575-2021-1-56-63.

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Abstract (sommario):

In recent years, there has been a significant increase in children with various speech disorders. Also, identifying the factors causing these disorders early and providing proper support is increasingly important. If the steps to correct such speech disorders are not taken quickly, secondary issues, such as communication, socialization, and educational problems, are observed. Training and corrective measures should be carried out while considering both the individual’s psychological and physiological characteristics. Identifying the cause and symptoms of a speech disorder plays an important role when developing a plan for a child’s education, upbringing, and development. These measures are crucial to providing the most suitable help to children with such disorders. The signs identified during diagnosis and those revealing the causes of the speech disorders are vital for outlining a pathogenetic description of the disorder and prescribing a set of corrective measures. Speech disorders indicate the intactness of a large part of the central nervous system, including motor and sensory areas. Moreover, they have diagnostic applications in cases of organic brain damage, malfunctions in the development of the nervous system, and mental retardation of various origins. The pedagogical process must include a full examination, as well as the proper combined support by speech disorder specialists. It is possible to carry out differential diagnoses of speech function disorders using the results of genetic studies and prepare correctional programs tailored to the identified disorders.

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Rutter, Michael. "Implications of Genetic Research for Child Psychiatry". Canadian Journal of Psychiatry 42, n. 6 (agosto 1997): 569–76. http://dx.doi.org/10.1177/070674379704200602.

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Abstract (sommario):

Objective: To review implications of genetic research in child psychiatry. Method: Key advances in quantitative and molecular genetics are noted and findings are summarized with respect to autism, attention-deficit hyperactivity disorder, oppositional defiant and conduct disorders, depression, schizophrenia, and Tourette's syndrome. Conclusions: Genetic findings will be helpful clinically in the elucidation of disordered brain processes, the understanding of nature–nurture interplay, diagnosis, genetic counselling, and pharmacotherapy.

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36

Umair, Muhammad, e Majid Alfadhel. "Genetic Disorders Associated with Metal Metabolism". Cells 8, n. 12 (9 dicembre 2019): 1598. http://dx.doi.org/10.3390/cells8121598.

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Abstract (sommario):

Genetic disorders associated with metal metabolism form a large group of disorders and mostly result from defects in the proteins/enzymes involved in nutrient metabolism and energy production. These defects can affect different metabolic pathways and cause mild to severe disorders related to metal metabolism. Some disorders have moderate to severe clinical consequences. In severe cases, these elements accumulate in different tissues and organs, particularly the brain. As they are toxic and interfere with normal biological functions, the severity of the disorder increases. However, the human body requires a very small amount of these elements, and a deficiency of or increase in these elements can cause different genetic disorders to occur. Some of the metals discussed in the present review are copper, iron, manganese, zinc, and selenium. These elements may play a key role in the pathology and physiology of the nervous system.

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Lee, Han-Chih Hencher, e Chor-Kwan Ching. "Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies". Clinical Biochemist Reviews 40, n. 4 (2019): 187–200. http://dx.doi.org/10.33176/aacb-19-00030.

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Abstract (sommario):

Genetic testing has an increasingly important role in the diagnosis and management of cardiac disorders, where it confirms the diagnosis, aids prognostication and risk stratification and guides treatment. A genetic diagnosis in the proband also enables clarification of the risk for family members by cascade testing. Genetics in cardiac disorders is complex where epigenetic and environmental factors might come into interplay. Incomplete penetrance and variable expressivity is also common. Genetic results in cardiac conditions are mostly probabilistic and should be interpreted with all available clinical information. With this complexity in cardiac genetics, testing is only indicated in patients with a strong suspicion of an inheritable cardiac disorder after a full clinical evaluation. In this review we discuss the genetics underlying the major cardiomyopathies and channelopathies, and the practical aspects of diagnosing these conditions in the laboratory.

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38

Kingston, H. M. "ABC of clinical genetics. Treatment of genetic disorders." BMJ 298, n. 6686 (3 giugno 1989): 1499–501. http://dx.doi.org/10.1136/bmj.298.6686.1499.

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39

Fauser, B. C. J. M., e A. J. W. Hsueh. "Genetics: Genetic basis of human reproductive endocrine disorders". Human Reproduction 10, n. 4 (aprile 1995): 826–46. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136047.

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40

Pato, Michele T., Humberto Nicolini e Carlos N. Pato. "Psychiatry and Molecular Genetics". CNS Spectrums 4, n. 5 (maggio 1999): 16. http://dx.doi.org/10.1017/s1092852900011664.

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Abstract (sommario):

Molecular genetic studies of complex disorders require a number of parallel strategies. Many of the more familial psychiatric syndromes are highly prevalent and may represent a collection of a number of distinct genetic subtypes and possibly a number of nongenetic subtypes. A nongenetic form of illness may appear clinically indistinguishable from a genetic form. These nongenetic subtypes of a syndrome would be considered phenocopies. In this and the subsequent issue of CNS Spectrums, a number of papers are presented that review the current state of psychiatric genetics of major disorders. Clinical strategies to narrow phenotypes and better define study populations are paired with laboratory and statistical strategies to optimize both candidate gene and genome scanning methods.In this issue, Kennedy and colleagues focus on a review of the genetics of schizophrenia, highlighting genome scans already completed and studies on special populations. Schindler and colleagues present a unique and efficient method for defining the homogeneity of a study population, surname analysis, and the importance of population selection in the design of genetic studies. Macedo and colleagues demonstrate the study of anticipation in bipolar mood disorder. Genetic anticipation is the observation of an earlier age of onset and greater disease severity in younger generations. This pattern has been associated with dynamic repeat expansions in the DNA in several neuropsychiatric disorders, and represents a good example of a unique genetic mechanism causing a unique phenotypic pattern. Nicolini and colleagues present work done to date on obsessive-compulsive disorder.

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De Rycke, Martine, e Veerle Berckmoes. "Preimplantation Genetic Testing for Monogenic Disorders". Genes 11, n. 8 (31 luglio 2020): 871. http://dx.doi.org/10.3390/genes11080871.

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Abstract (sommario):

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

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Forstner, Andreas J., Per Hoffmann, Markus M. Nöthen e Sven Cichon. "Insights into the genomics of affective disorders". Medizinische Genetik 32, n. 1 (1 maggio 2020): 9–18. http://dx.doi.org/10.1515/medgen-2020-2003.

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Abstract (sommario):

Abstract Affective disorders, or mood disorders, are a group of neuropsychiatric illnesses that are characterized by a disturbance of mood or affect. Most genetic research in this field to date has focused on bipolar disorder and major depression. Symptoms of major depression include a depressed mood, reduced energy, and a loss of interest and enjoyment. Bipolar disorder is characterized by the occurrence of (hypo)manic episodes, which generally alternate with periods of depression. Formal and molecular genetic studies have demonstrated that affective disorders are multifactorial diseases, in which both genetic and environmental factors contribute to disease development. Twin and family studies have generated heritability estimates of 58–85 % for bipolar disorder and 40 % for major depression. Large genome-wide association studies have provided important insights into the genetics of affective disorders via the identification of a number of common genetic risk factors. Based on these studies, the estimated overall contribution of common variants to the phenotypic variability (single-nucleotide polymorphism [SNP]-based heritability) is 17–23 % for bipolar disorder and 9 % for major depression. Bioinformatic analyses suggest that the associated loci and implicated genes converge into specific pathways, including calcium signaling. Research suggests that rare copy number variants make a lower contribution to the development of affective disorders than to other psychiatric diseases, such as schizophrenia or the autism spectrum disorders, which would be compatible with their less pronounced negative impact on reproduction. However, the identification of rare sequence variants remains in its infancy, as available next-generation sequencing studies have been conducted in limited samples. Future research strategies will include the enlargement of genomic data sets via innovative recruitment strategies; functional analyses of known associated loci; and the development of new, etiologically based disease models. Researchers hope that deeper insights into the biological causes of affective disorders will eventually lead to improved diagnostics and disease prediction, as well as to the development of new preventative, diagnostic, and therapeutic strategies. Pharmacogenetics and the application of polygenic risk scores represent promising initial approaches to the future translation of genomic findings into psychiatric clinical practice.

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Grant, J. D., M. T. Lynskey, P. A. F. Madden, E. C. Nelson, L. R. Few, K. K. Bucholz, D. J. Statham, N. G. Martin, A. C. Heath e A. Agrawal. "The role of conduct disorder in the relationship between alcohol, nicotine and cannabis use disorders". Psychological Medicine 45, n. 16 (18 agosto 2015): 3505–15. http://dx.doi.org/10.1017/s0033291715001518.

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Abstract (sommario):

Background.Genetic influences contribute significantly to co-morbidity between conduct disorder and substance use disorders. Estimating the extent of overlap can assist in the development of phenotypes for genomic analyses.Method.Multivariate quantitative genetic analyses were conducted using data from 9577 individuals, including 3982 complete twin pairs and 1613 individuals whose co-twin was not interviewed (aged 24–37 years) from two Australian twin samples. Analyses examined the genetic correlation between alcohol dependence, nicotine dependence and cannabis abuse/dependence and the extent to which the correlations were attributable to genetic influences shared with conduct disorder.Results.Additive genetic (a2 = 0.48–0.65) and non-shared environmental factors explained variance in substance use disorders. Familial effects on conduct disorder were due to additive genetic (a2 = 0.39) and shared environmental (c2 = 0.15) factors. All substance use disorders were influenced by shared genetic factors (rg = 0.38–0.56), with all genetic overlap between substances attributable to genetic influences shared with conduct disorder. Genes influencing individual substance use disorders were also significant, explaining 40–73% of the genetic variance per substance.Conclusions.Among substance users in this sample, the well-documented clinical co-morbidity between conduct disorder and substance use disorders is primarily attributable to shared genetic liability. Interventions targeted at generally reducing deviant behaviors may address the risk posed by this shared genetic liability. However, there is also evidence for genetic and environmental influences specific to each substance. The identification of these substance-specific risk factors (as well as potential protective factors) is critical to the future development of targeted treatment protocols.

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Helm, Benjamin M., e Stephanie M. Ware. "Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing". Genes 15, n. 4 (18 aprile 2024): 505. http://dx.doi.org/10.3390/genes15040505.

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Abstract (sommario):

Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with congenital heart disease (CHD), but there are no prior studies assessing performance of ECA status as a screen for genetic diagnoses in CHD patients. This retrospective cohort study assessed this in our comprehensive inpatient CHD genetics service focusing on neonates and infants admitted to the intensive care unit (ICU). The performance and diagnostic utility of using ECA status to screen for genetic disorders was assessed using decision curve analysis, a statistical tool to assess clinical utility, determining the threshold of phenotypic screening by ECA versus a Test-All approach. Over 24% of infants had genetic diagnoses identified (n = 244/1013), and ECA-positive status indicated a 4-fold increased risk of having a genetic disorder. However, ECA status had low–moderate screening performance based on predictive summary index, a compositive measure of positive and negative predictive values. For those with genetic diagnoses, nearly one-third (32%, 78/244) were ECA-negative but had cytogenetic and/or monogenic disorders identified by genetic testing. Thus, if the presence of multiple congenital anomalies is the phenotypic driver to initiate genetic testing, 13.4% (78/580) of infants with isolated CHD with identifiable genetic causes will be missed. Given the prevalence of genetic disorders and limited screening performance of ECA status, this analysis supports genetic testing in all CHD infants in intensive care settings rather than screening based on ECA.

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Zhestkova, M. A., e D. Yu Ovsyannikov. "GENETIC DISORDERS OF SURFACTANT PROTEINS". Pediatria. Journal named after G.N. Speransky 100, n. 5 (11 ottobre 2021): 82–89. http://dx.doi.org/10.24110/0031-403x-2021-100-5-82-89.

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Abstract (sommario):

The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.

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46

Jamkhedkar, Suruchi. "Developmental disorders-genetic view". Acta Medica International 3, n. 2 (2016): 24. http://dx.doi.org/10.5530/ami.2016.2.6.

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47

Simon, Chantal, e Peter Farndon. "What Causes Genetic Disorders?" InnovAiT: Education and inspiration for general practice 1, n. 8 (agosto 2008): 544–53. http://dx.doi.org/10.1093/innovait/inn087.

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Mazzocco, Mich??le M. M., e Allan L. Reiss. "Genetic disorders and advances". Current Opinion in Psychiatry 7, n. 5 (settembre 1994): 392–96. http://dx.doi.org/10.1097/00001504-199409000-00006.

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49

Tsipouras, P., e F. Ramirez. "Genetic disorders of collagen." Journal of Medical Genetics 24, n. 1 (1 gennaio 1987): 2–8. http://dx.doi.org/10.1136/jmg.24.1.2.

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50

Haber, Paul S. "Genetic disorders in pancreatitis". Journal of Gastroenterology and Hepatology 19, n. 8 (agosto 2004): 939. http://dx.doi.org/10.1111/j.1440-1746.2004.03571.x.

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