Relevant bibliographies by topics / Phenotype-genotype correlations

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

Academic literature on the topic 'Phenotype-genotype correlations'

Author: Grafiati
Published: 4 June 2021
Last updated: 2 February 2022

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Journal articles on the topic "Phenotype-genotype correlations"

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Gasche, Christoph, Behrooz Z. Alizadeh, and A. Salvador Peña. "Genotype–phenotype correlations." European Journal of Gastroenterology & Hepatology 15, no. 6 (2003): 599–606. http://dx.doi.org/10.1097/00042737-200306000-00004.

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Gupta, Sanjoy K., Inge De Becker, François Tremblay, Duane L. Guernsey, and Paul E. Neumann. "Genotype/phenotype correlations in aniridia." American Journal of Ophthalmology 126, no. 2 (1998): 203–10. http://dx.doi.org/10.1016/s0002-9394(98)00191-3.

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Sheikh, S. M., H. W. Schroeder, and H. W. Schroeder. "Genotype/phenotype correlations in CVID." Journal of Allergy and Clinical Immunology 111, no. 2 (2003): S234—S235. http://dx.doi.org/10.1016/s0091-6749(03)80823-0.

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Plaisancié, J., N. K. Ragge, H. Dollfus, et al. "FOXE3 mutations: genotype-phenotype correlations." Clinical Genetics 93, no. 4 (2018): 837–45. http://dx.doi.org/10.1111/cge.13177.

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Fugazzola, L., M. Muzza, G. Weber, P. Beck-Peccoz, and L. Persani. "DUOXS defects: Genotype-phenotype correlations." Annales d'Endocrinologie 72, no. 2 (2011): 82–86. http://dx.doi.org/10.1016/j.ando.2011.03.004.

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Trefz, Friedrich K., Peter Burgard, Thomas König, et al. "Genotype-phenotype correlations in phenylketonuria." Clinica Chimica Acta 217, no. 1 (1993): 15–21. http://dx.doi.org/10.1016/0009-8981(93)90233-t.

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Rusu, C. "Genotype – Phenotype Correlations in Noonan Syndrome." Acta Endocrinologica (Bucharest) 10, no. 3 (2014): 463–76. http://dx.doi.org/10.4183/aeb.2014.463.

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Millichap, J. Gordon, and John J. Millichap. "Genotype-Phenotype Correlations in Alternating Hemiplegia." Pediatric Neurology Briefs 28, no. 4 (2014): 31. http://dx.doi.org/10.15844/pedneurbriefs-28-4-8.

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Parsa, Afshin. "Genotype–Phenotype Correlations: Filling the Void." Clinical Journal of the American Society of Nephrology 5, no. 9 (2010): 1542–43. http://dx.doi.org/10.2215/cjn.06300710.

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Neveling, Kornelia, Daniela Endt, Holger Hoehn, and Detlev Schindler. "Genotype–phenotype correlations in Fanconi anemia." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 668, no. 1-2 (2009): 73–91. http://dx.doi.org/10.1016/j.mrfmmm.2009.05.006.

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Dissertations / Theses on the topic "Phenotype-genotype correlations"

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Burke, Georgina. "Genotype - phenotype correlations in congenital myasthenia." Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437178.

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Kapoor, R. "Defining genotype-phenotype correlations in children with congenital hyperinsulinism." Thesis, University College London (University of London), 2010. http://discovery.ucl.ac.uk/192839/.

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Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI, with mutations in HNF4A being the most recent identified genetic aetiology. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive hyperinsulinaemic hypoglycaemia (HH). Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in adulthood or not. The phenotype and prevalence of the genetic subgroups in a large cohort of patients has not been studied previously. Aims: The aims of this thesis include: 1. To investigate genotype/phenotype correlations in a large cohort of patients with CHI by comparing different genetic aetiologies 2. To examine the prevalence and phenotype of patients with HH resulting from HNF4A gene mutations 3. To study the phenotype of dominantly inherited KATP channel mutations causing CHI and functionally characterize the novel dominant mutations identified Methods: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to genotyping. ABCC8 and KCNJ11 genes were sequenced in all patients with CHI that were unresponsive to diazoxide, the mainstay of medical treatment in CHI. Mutations in the GCK, GLUD1 and HADH genes were sought in patients with diazoxide responsive CHI with hyperammonaemia (HI/HA) (or leucine sensitivity (GLUD1)), raised 3-hydroxybutyryl-carnitine (HADH) or positive family history and/or delayed presentation (GCK). If no mutations were identified and in all other patients with diazoxide responsive CHI (and where diazoxide responsiveness was not known); ABCC8, KCNJ11 and HNF4A genes were sequenced. The clinical characteristics of patients with the different genetic aetiologies identified were collated and the phenotypic characteristics of the patients found to have a HNF4A mutation were compared with the phenotypic characteristics of patients with transient and/ or diazoxide responsive CHI and a KATP mutation (n= 27), GLUD1 mutation (n= 13) or a HADH mutation (n=3). The one-way analysis of variance (ANOVA) test was used to compare the phenotypic data followed by LSD post-test to test for statistical significance. Protein sensitivity was investigated in patients with a HADH mutation (n=3). Upon confirmation of protein sensitivity, leucine tolerance test were conducted in these patients to understand the mechanism of protein sensitivity. The phenotype of ten families with dominant ABCC8/KCNJ11 mutations and the prevalence of diabetes mellitus in the adult mutation carriers were also studied in detail. Functional consequences of six novel dominant KATP channel mutations (five ABCC8 and one KCNJ11) were examined by reconstituting the KATP channel in HEK293 cells and evaluating the effect of drugs (diazoxide, glibenclamide) and metabolic poisoning on the channels using 86Rb flux assay. Results: Mutations were identified in 146/300 patients (48.6%). Mutations in the ABCC8/KCNJ11 were the commonest genetic cause identified (n=117, 39%). Among diazoxide unresponsive patients (n=105), mutations in these two genes were identified in 92 (87.6%); of whom 63 patients had recessively inherited mutations while four patients had three novel dominantly inherited ABCC8 mutations (G1485E, D1506E and M1514K). Among the diazoxide responsive patients (n=183), mutations were identified in 51 patients. These include mutations in the ABCC8(n=25), KCNJ11(n=3), HNF4A(n=7), GLUD1(n=16) and HADH(n=3). No mutations were identified in 132 (72%) patients in this group. Heterozygous missense mutations were detected in 15 patients with HI/HA, two of which are novel (N410D, D451V). In addition, a patient with a normal serum ammonia concentration (21μmol/l) was heterozygous for a novel missense mutation P436L. Functional analysis of this mutation confirmed that it is associated with a loss of GTP inhibition. Seizure disorder was common (43%) in our cohort of patients with a GLUD1 mutation. The study identified a novel homozygous missense mutation (M188V) in the HADH gene in a patient with normal acylcarnitines and urine organic acids. Hydroxyacyl-Coenzyme A dehydrogenase activity was significantly decreased compared with controls (index patient mean 26.8 ± SEM 4.8mU/mg protein vs. controls 48.0 ± 8.1; p=0.029) in skin fibroblasts. This patient and two other children with CHI due to HADH gene mutations were severely protein sensitive. The three children also demonstrated marked leucine sensitivity. HNF4A mutations were identified to cause persistent CHI in addition to transient CHI, reported previously. 3/8 children with an HNF4A mutation did not have a diabetic parent. Children with HNF4A mutations had increased birth weight (median +2.4 SDS) and presented early (median of day 1). Patients with a KATP channel mutation were also large at birth (birth weight SDS ranged between -1.96 to +4.66) with an early age of presentation (ranging from 1 day to 365 days). In contrast, patients with a GLUD1/ HADH mutation were diagnosed later (mean of 157 and 125 days respectively) and were of normal birth weight (mean birth wt SDS of -0.11 and -1.09 respectively). Study of the phenotype of the dominant ABCC8/KCNJ11 mutations identified an increased prevalence (57%) of diabetes in the adult mutation carriers. Functional studies on the novel ABCC8/KCNJ11 mutations showed no 86Rb efflux when the mutant channels were activated, thus confirming the pathogenicity of the mutations. Conclusions: A genetic diagnosis was possible in only 48.6% of patients with mutations in the ABCC8 gene being the commonest cause. Recessively inherited mutations in the ABCC8/ KCNJ11 are associated with diazoxide unresponsive disease. However, the phenotype associated with dominant ABCC8/ KCNJ11 mutations is variable, ranging from mild medically responsive CHI to severe early onset CHI requiring a near total pancreatectomy. In adults, dominant ABCC8/ KCNJ11 mutations may also be an important cause of dominantly inherited early onset diabetes mellitus. Patients with hyperinsulinism due to mutations in the GLUD1 gene have a high risk of epilepsy and may have normal serum ammonia concentrations. Hence GLUD1 mutational analysis may be indicated in patients with leucine sensitivity; even in the absence of hyperammonaemia. Mutations in the HADH gene are associated with protein induced HH due to leucine sensitivity, suggesting a novel biochemical pathway by which HADH regulates leucine induced insulin secretion. Patients with CHI due HADH gene mutations may have normal acylcarnitines and urine organic acids. Hence, sequencing of HADH must be considered in patients with diazoxide responsive HH from consanguineous families, even in the absence of these features. In this large series, HNF4A mutations were the third common cause of diazoxide responsive CHI causing both transient and persistent HH, even in the absence of a family history of diabetes. HNF4A sequence analysis must hence be considered in all patients diagnosed with HH in the first week of life, irrespective of a family history of diabetes mellitus. Future Work: The vast majority of patients with diazoxide responsive CHI had no mutations identified suggesting other novel mechanisms of insulin secretion. Understanding the genetic aetiology of CHI in this large cohort of patients will provide novel insights into pancreatic beta-cell physiology and have implications for hypoglycaemia and diabetes mellitus.
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Downes, Kate. "Identifying genotype to phenotype correlations in type 1 diabetes." Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609360.

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Johansson, Camilla. "Exploring genotype to phenotype correlations in Duchenne muscular dystrophy." Thesis, KTH, Skolan för bioteknologi (BIO), 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-215302.

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Scharner, Juergen. "Investigating genotype-phenotype correlations and potential therapies for laminopathies." Thesis, King's College London (University of London), 2014. https://kclpure.kcl.ac.uk/portal/en/theses/investigating-genotypephenotype-correlations-and-potential-therapies-for-laminopathies(fc49fd7f-72dd-48af-8c00-e944efea241c).html.

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Laminopathies are a heterogeneous group of diseases associated with mutations in A-type lamins, which together with B-type lamins, form the nuclear lamina: a proteinaceous network underlying the nuclear membrane. A-type lamins are encoded by the LA1NA gene, and more than 300 mutations have been described, associated with more than 16 phenotypes. The majority of mutations affect striated muscle to cause Emery-Dreifuss muscular dystrophy (EDMD) or cardiomyopathy, while others result in lipodystrophy, neuropathy or premature ageing syndromes. However, clear genotype-phenotype correlations are not established, the pathogenic mechanisms are little understood and therapies are lacking. -- This thesis first explores genotype-phenotype for LMZV/4 mutations and makes correlations by characterising both physical-chemical properties of the amino-acid change, and position in the 3D structure of lamin A. LMNsl mutations associated with muscular dystrophies, premature ageing disorders and lipodystrophies clustered in the Ig-fold domain of lamin A and resulted in a similar change in charge, suggesting that modification of specific protein-protein interactions contribute to different phenotypes. -- Next, I investigated the effects of four pathogenic EDMD mutations on nuclear morphology, nuclear protein distribution and myogenic cell function. I found that some mutations led to severe nuclear deformations and mislocalisation of lamin B, while others caused accumulation of lamin A-positive nuclear foci. Myogenic differentiation was mildly affected by some mutant lamin A species. -- Finally, I describe a series of proof-of-principle experiments investigating a potential therapeutic intervention for laminopathies. A lamin A variant with a deletion corresponding to regions encoded by exon 5, removing 42 amino acids in the central rod domain, localised correctly.
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Tomlinson, Patsy Roseanne. "Mechanistic investigation of genotype-phenotype correlations in PIK3R1-related diseases." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/271188.

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The PIK3R1 gene encodes three proteins - p85$\alpha$, p50$\alpha$ and p55$\alpha$ - that are regulatory subunits of Class IA phosphoinositide 3-kinases (PI3Ks). These regulatory subunits heterodimerise with one of three catalytic subunit isoforms, namely p110$\alpha$, p110$\beta$, or p110$\delta$. Class IA PI3Ks are critical enzymes involved in fundamental metabolic and mitogenic signalling pathways. This thesis describes the delineation of biochemical and molecular mechanisms whereby PIK3R1 mutations cause diverse disease phenotypes observed in SHORT syndrome (defined by Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay), the primary immunodeficiency Activated PI3K-$\delta$ Syndrome 2 (APDS2), and cancer. Initial studies of purified wildtype or mutant PI3K complexes, utilising a modified PI3K fluorescence polarisation lipid kinase assay, established that SHORT syndrome-associated p85$\alpha$ mutations impaired phosphotyrosine peptide-stimulated PI3K activity when heterodimerised with either of the Class IA catalytic subunit isoforms. Two cancer-associated mutations assessed using the same assay demonstrated differential effects on PI3K function, causing either basal activation or impaired phosphotyrosine peptide-stimulated PI3K activity. To examine the effect of SHORT syndrome-associated p85$\alpha$ mutations in insulin-responsive cell types, 3T3-L1 preadipocyte models with conditional overexpression of p85$\alpha$ Y657X or p85$\alpha$ R649W were generated. Doxycycline-induced overexpression of mutant p85$\alpha$ attenuated insulin-stimulated Akt phosphorylation due to reduced insulin-stimulated association of p85$\alpha$/p110$\alpha$ heterodimers with either IRS1 or IRS2. This in turn resulted in impaired downstream signalling as indicated by low adipogenic efficiency. Cells and tissues isolated from Pik3r1$^{WT/Y657X}$ knock-in mice also demonstrated decreased insulin-stimulated Akt phosphorylation. Observations from a system with endogenous expression of mutant p85$\alpha$ Y657X supported the results obtained in the 3T3-L1 p85$\alpha$ overexpression models. The final part of this thesis focussed on a PIK3R1 exon skipping mutant (p85$\alpha$ $\Delta$Ex11) that confers PI3K activation in lymphocytes and causes APDS2. APDS2 patients have an immune-restricted phenotype, even though the mutation occurs within the ubiquitously expressed PIK3R1. To investigate this phenomenon, the doxycycline-inducible system was used to model overexpression of p85$\alpha$ $\Delta$Ex11, as well as an activating p110$\alpha$ H1047R mutation associated with cancer, in 3T3-L1 preadipocytes. Surprisingly, given that APDS2 is not normally associated with metabolic or growth problems, high overexpression of p85$\alpha$ $\Delta$Ex11 severely attenuated insulin-stimulated Akt phosphorylation and adipocyte differentiation. There was also reduced insulin-stimulated recruitment of p110$\alpha$ to either IRS1 or IRS2, and impaired heterodimerisation of p85$\alpha$ $\Delta$Ex11 with p110$\alpha$. Collectively, the data presented in this thesis contributes to the developing knowledge of PIK3R1-related diseases. In particular, these studies provided novel insights into the biochemical and molecular mechanisms of SHORT syndrome-associated p85$\alpha$ mutations. Additionally, these data delivered further understanding of potential mechanisms underlying the immune-specific phenotype of APDS2 caused by PIK3R1 mutations.
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Lißewski, Christina Antonia [Verfasser]. "The RASopathies : molecular genetics and genotype-phenotype correlations / Christina Antonia Lißewski." Magdeburg : Universitätsbibliothek, 2018. http://d-nb.info/1158660081/34.

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Montero, Fernando Alberto Morales. "Somatic mosaicism and genotype-phenotype correlations in myotonic dystrophy type 1." Thesis, University of Glasgow, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433224.

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Lißewski, Christina [Verfasser]. "The RASopathies : molecular genetics and genotype-phenotype correlations / Christina Antonia Lißewski." Magdeburg : Universitätsbibliothek, 2018. http://d-nb.info/1158660081/34.

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Nossek, C. "Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations." Master's thesis, University of Cape Town, 2010. http://hdl.handle.net/11427/3101.

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Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner. To date the only gene found to be involved with the autosomal recessive form is ABCA4. Mutations in this gene are associated not only with STGD, but with other autosomal recessive retinal diseases. Due to the numerous mutations detected in ABCA4 and their associated phenotypic heterogeneity, a genotype-phenotype model has been proposed based on the amount of ABCA4 protein activity. Research in the Division of Human Genetics at the University of Cape Town (UCT) has suggested possible ABCA4 founder mutations underlying STGD in the South African Caucasian Afrikaner population and has identified seven (C1490Y, R602W, IVS38-10T>C, L2027F, V256V, G863A, and R152X) common mutations. In a cohort of patients affected with an ABCA4-associated retinopathy (AAR) a total of 36% were identified as having various bi-allelic combinations of the seven mutations.In the current study, SNaPshot PCR, allele-specific PCR (AS-PCR) and denaturing high performance liquid chromatography (dHPLC) analysis were used to screen for the seven mutations in a patient cohort and a control cohort. A high detection rate of bi-allelic disease-causing mutations in total of 28/72 patients (i.e. 38.89% were fully characterised) confirmed the designed assay to be a viable screening tool, which could be employed in a diagnostic setting. The detection of 12 heterozygotes in the Caucasian control samples (n = 269; 169 of which were specifically Afrikaner) resulted in an estimated background frequency of 4.46 per 100 individuals. This could be used by counsellors to discuss carrier risks with patients and their family members. Bioinformatic tools (PolyPhen, SIFT, PMUT, PANTHER PSEC, ESEfinder, and the BDGP Splice Site Prediction programme) revealed the predicted pathogenicity of the seven mutations to be as follows (in order of decreasing pathogenicity): C1490Y, R602W, V256V, R152X, G863A, L2027F, and IVS38-10T>C. Statistical analysis (using the Kruskal-Wallis test and the Wilcoxon Rank Sum test) showed no significant12effect of mutation combination on phenotype (i.e. AOO/severity as a measure of clinical outcome).To improve the understanding of the genotype-phenotype correlation a larger cohort of South African STGD patients with the same common mutations in various combinations and the availability of sufficient clinical data, is required. Further investigations into the genotype-phenotype correlation, combined with the information on the pathogenicity of the mutations, could result in increased understanding regarding the impact of each mutation, thus enhancing the clinical utility of identifying ABCA4 mutations.
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Books on the topic "Phenotype-genotype correlations"

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Goodfellow, John A., Amy I. Davidson, and Hugh J. Willison. Demyelinating Neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0123.

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Many neuropathies have in common the basic pathophysiological mechanism of demyelination. Our understanding of the normal process of myelination and the molecular structure of myelin, nodes of Ranvier, and internodes has increased in recent years, yielding a greater understanding of the process of demyelination in disease. This chapter focuses on the inherited neuropathies as examples of non-inflammatory demyelinating neuropathies. For these conditions there are ongoing genotype-phenotype correlations and a greater appreciation of the importance of distal axonal degeneration as a consequence of demyelination.
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Cazeneuve, Cécile, and Alexandra Durr. Genetic and Molecular Studies. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0006.

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Huntington’s disease (HD) is a rare inherited neurologic disorder due to a single mutational mechanism in a large gene (HTT). The mutation is an abnormal CAG repeat expansion, which is translated to a polyglutamine stretch in the huntingtin protein. The growing field of repeat expansion disorders benefits greatly from the lessons learned from the role of the CAG repeat expansion in HD and its resulting phenotype–genotype correlations. The molecular diagnosis can be difficult, and there are some pitfalls for accurate sizing of the CAG repeat, especially in juvenile HD and for intermediate alleles. Correlation between CAG length and age of onset accounts for up to 72% of the variance in different populations, but the search for genes modifying age of onset or progression of HD is still ongoing.
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Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be diagnosed thanks to the significant elevation of two plasma oxysterols: 27- and 25-hydroxycholesterol. Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. Furthermore, the dramatic therapeutic response of a child with liver failure due to CYP7B1 mutations using chenodeoxycholic acid opens promising therapeutic perspectives for SPG5 patients, possibly as in cerebrotendinous xanthomatosis.
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Syrris, Petros, and Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy: genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50% of ARVC cases. A further eight non-desmosomal genes have also been implicated in the pathogenesis of the disorder but only account for rare cases. Studies of patients with ARVC-associated gene mutations have revealed marked genetic heterogeneity and very limited genotype–phenotype correlation. Disease expression often varies significantly amongst individuals carrying the same mutation. It has been proposed that the presence of more than one sequence variant is required to determine overt clinical disease and patients with multiple variants have a more severe phenotype compared to single variant carriers. Identification of a potentially pathogenic variant comprises a major criterion in the diagnosis of ARVC but informative integration of genetic testing into clinical practice remains challenging. Gene testing should be used to identify asymptomatic family members at risk and only aids diagnosis in cases of high suspicion for ARVC, along with other evident features of the disease already present. However, genetic findings should be used with caution in clinical practice and their interpretation must be performed in expert centres.
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Book chapters on the topic "Phenotype-genotype correlations"

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Vihinen, Mauno, and Anne Durandy. "Primary Immunodeficiencies: Genotype-Phenotype Correlations." In Immunogenomics and Human Disease. John Wiley & Sons, Ltd, 2006. http://dx.doi.org/10.1002/0470034092.ch20.

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Dorfman, Ruslan, and Julian Zielenski. "Genotype-Phenotype Correlations in Cystic Fibrosis." In Cystic Fibrosis in the 21st Century. KARGER, 2005. http://dx.doi.org/10.1159/000088475.

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Brun, Francesca, Concetta Di Nora, Michele Moretti, Anita Spezzacatene, Luisa Mestroni, and Fulvio Camerini. "Genetics: Genotype/Phenotype Correlations in Cardiomyopathies." In Clinical Echocardiography and Other Imaging Techniques in Cardiomyopathies. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-06019-4_2.

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Hoffman, Eric P. "Genotype/phenotype correlations in Duchenne/Becker dystrophy." In Molecular and Cell Biology of Muscular Dystrophy. Springer Netherlands, 1993. http://dx.doi.org/10.1007/978-94-011-1528-5_2.

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Stuhrmann, Manfred, Thilo Dörk, Michael Krawczak, et al. "Genotype-Phenotype Correlations in Cystic Fibrosis Patients." In Advances in Experimental Medicine and Biology. Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-5934-0_12.

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Mornet, Etienne. "Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations." In Subcellular Biochemistry. Springer Netherlands, 2015. http://dx.doi.org/10.1007/978-94-017-7197-9_2.

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Airey, Edward, Stephanie Portelli, Joicymara S. Xavier, et al. "Identifying Genotype–Phenotype Correlations via Integrative Mutation Analysis." In Methods in Molecular Biology. Springer US, 2020. http://dx.doi.org/10.1007/978-1-0716-0826-5_1.

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Upadhyaya, M. "NF1 Gene Structure and NF1 Genotype/Phenotype Correlations." In Neurofibromatoses. KARGER, 2008. http://dx.doi.org/10.1159/000126543.

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Declau, Frank, Kris Van den Bogaert, Paul Van De Heyning, Erwin Offeciers, Paul Govaerts, and Guy VanCamp. "Phenotype-Genotype Correlations in Otosclerosis: Clinical Features of OTSC2." In Otosclerosis and Stapes Surgery. KARGER, 2007. http://dx.doi.org/10.1159/000098745.

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Roberts, Robert, Linda Bachinski, Qun-Tao Yu, Miguel Quiñines, Robert Young, and Ali J. Marian. "Molecular Analysis of Genotype/Phenotype Correlations of Hypertrophic Cardiomyopathy." In Developments in Cardiovascular Medicine. Springer US, 1995. http://dx.doi.org/10.1007/978-1-4613-1237-6_1.

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Conference papers on the topic "Phenotype-genotype correlations"

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Palazzini, Massimiliano, Federica Sgrò, Cristina Bachetti, et al. "Genotype To Phenotype Correlations In Heritable Pulmonary Arterial Hypertension (PAH)." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a5504.

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Beer, B., B. Schubert, M. Hubalek, et al. "Abstract P5-11-04: Phenotype-Genotype Correlations in Breast Cancer Patients Treated with Tamoxifen." In Abstracts: Thirty-Third Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 8‐12, 2010; San Antonio, TX. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/0008-5472.sabcs10-p5-11-04.

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Lik NG, Samuel Yan, Ivan FM Lo, and Ho-Ming Luk. "235 Genotype/phenotype correlations in 125 Chinese patients with tuberous sclerosis: a 29 years’ experience in hong kong." In RCPCH Conference Singapore. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/bmjpo-2021-rcpch.129.

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Pearce, Wayne, Nicoletta Kessaris, Nicholas R. Leslie, et al. "Abstract B22: Investigation of PTEN genotype-phenotype correlations in the PTEN hamartoma tumor syndrome (PHTS) using in vitro and in vivo approaches." In Abstracts: AACR Special Conference on Targeting PI3K/mTOR Signaling; November 30-December 8, 2018; Boston, MA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1557-3125.pi3k-mtor18-b22.

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Dofek, S., P. Gamerdinger, S. Fehr, et al. "Genotype-phenotype correlation in hereditary hearing loss." In Abstract- und Posterband – 89. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Forschung heute – Zukunft morgen. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1640290.

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Banchev, A., B. Pezeshkpoor, B. Preisler, A. Stupar, A. Pavlova, and J. Oldenburg. "Correlation of Genotype and Phenotype in Congenital FXI Deficiency." In 63rd Annual Meeting of the Society of Thrombosis and Haemostasis Research. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1680156.

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Tropitzsch, A., S. Dofek, F. Schneider, et al. "Outcome prediction in Cochlear implant patients, a genotype-phenotype correlation." In Abstract- und Posterband – 90. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Digitalisierung in der HNO-Heilkunde. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1686528.

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Kallefullah Mohammad, J., L. Bosch, A. Dastamani, et al. "G413 Genotype and phenotype correlation in children with congenital hyperinsulinism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 25 September 2020–13 November 2020. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2020. http://dx.doi.org/10.1136/archdischild-2020-rcpch.355.

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Cronin, H., G. Fahy, D. Kerins, C. Vaughan, and D. Crinion. "2 Inferolateral T-wave inversion in athletes: a phenotype-genotype correlation." In Irish Cardiac Society Annual Scientific Meeting & AGM, Thursday October 4th – Saturday October 6th 2018, Galway Bay Hotel, Galway, Ireland. BMJ Publishing Group Ltd and British Cardiovascular Society, 2018. http://dx.doi.org/10.1136/heartjnl-2018-ics.2.

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Rand, Casey M., Michael S. Carroll, Elizabeth M. Berry-Kravis, et al. "Clinical PHOX2B Testing In Congenital Central Hypoventilation Syndrome (CCHS): Genotype/Phenotype Correlation." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a3705.

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