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Academic literature on the topic 'Autosomal dominant variation in globin genes'

Author: Grafiati
Published: 7 June 2025
Last updated: 2 August 2025

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Journal articles on the topic "Autosomal dominant variation in globin genes"

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Srinivas, G., D.V. Ramanjaneyulu, E. Muralinath, et al. "An Important Parameters of Methemoglobinemia Include Symptoms, Clinical Management and Treatment." Research & Reviews: Journal of Community Health Nursing 1, no. 1 (2025): 1–11. https://doi.org/10.5281/zenodo.14676797.

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<em>Ferri-iron of methemoglobin (MetHb) is a rare disorder associated with the oxidation of divalent ferro-iron of hemoglobin (Hb). Both acquired and hereditary processes can result from methemoglobinemia. The most prevalent types are acquired ones, primarily as a result of exposure to chemicals that directly or indirectly oxidize Hb. Inherited forms are due either to autosomal recessive variants in the CYB5R3 gene or to autosomal dominant variants in the globin genes, collectively </em><em>termed as HbM disease. </em>
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Srinivas, G., D.V. Ramanjaneyulu, E. Muralinath, et al. "Specific Parameters of Methemoglobinemia are Hereditary that is Enzyme Deficiency as well as Acquired Methemoglobinemia, Diagnosis and Differential Diagnosis." Research and Reviews: Journal of Dermatology Nursing 2, no. 1 (2025): 16–25. https://doi.org/10.5281/zenodo.14636415.

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<em>An uncommon condition known as methemoglobinemia is caused by the oxidation of divalent ferro-iron of hemoglobin (Hb) to ferri-iron of methemoglobin (MetHb). Methemoglobinemia may result in acquired or inherited mechanisms. The most prevalent types are acquired, primarily as a result of exposure to chemicals that directly or indirectly oxidize yellow blood cells. Inherited forms, known as HbM sickness, are caused by autosomal dominant mutations in the globin genes or autosomal recessive variants in the CYB5R3 gene. Our recommendations are </em><em>dependent upon a systematic literature sea
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Gooding, R. H. "Genetic variation in arthropod vectors of disease-causing organisms: obstacles and opportunities." Clinical Microbiology Reviews 9, no. 3 (1996): 301–20. http://dx.doi.org/10.1128/cmr.9.3.301.

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An overview of the genetic variation in arthropods that transmit pathogens to vertebrates is presented, emphasizing the genetics of vector-pathogen relationships and the biochemical genetics of vectors. Vector-pathogen interactions are reviewed briefly as a prelude to a discussion of the genetics of susceptibility and refractoriness in vectors. Susceptibility to pathogens is controlled by maternally inherited factors, sex-linked dominant alleles, and dominant and recessive autosomal genes. There is widespread interpopulation (including intercolony) and temporal variation in susceptibility to p
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Järvelä, Irma, Tuomo Määttä, Anushree Acharya, et al. "Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland." Human Genetics 140, no. 7 (2021): 1011–29. http://dx.doi.org/10.1007/s00439-021-02268-1.

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AbstractThe genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de n
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Chu, Kang, Daniel L. Koller, Richard Snyder, et al. "Analysis of variation in expression of autosomal dominant osteopetrosis type 2: Searching for modifier genes." Bone 37, no. 5 (2005): 655–61. http://dx.doi.org/10.1016/j.bone.2005.06.003.

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Lojo-Kadric, Naida, Zelija Velija Asimi, Jasmin Ramic, Ksenija Radic, and Lejla Pojskic. "Copy number variation in MODY diabetes - Familial case presentation." Genetics & Applications 2, no. 2 (2018): 73. http://dx.doi.org/10.31383/ga.vol2iss2pp73-77.

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MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analys
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Balicza, Peter, Renata Bencsik, Andras Lengyel, et al. "Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability." Neurology Genetics 6, no. 5 (2020): e515. http://dx.doi.org/10.1212/nxg.0000000000000515.

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ObjectiveOur aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity.MethodsTargeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-associated genes were performed in many affected and unaffected members of the family. In addition, a trio whole-genome sequencing was performed to find a potential explanation of phenotypic variability. Neuropathologic analysis was performed in a single affected family member.ResultsThe clinical phenotype w
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Lanktree, Matthew B., Amirreza Haghighi, Elsa Guiard, et al. "Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing." Journal of the American Society of Nephrology 29, no. 10 (2018): 2593–600. http://dx.doi.org/10.1681/asn.2018050493.

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BackgroundEstimating the prevalence of autosomal dominant polycystic kidney disease (ADPKD) is challenging because of age-dependent penetrance and incomplete clinical ascertainment. Early studies estimated the lifetime risk of ADPKD to be about one per 1000 in the general population, whereas recent epidemiologic studies report a point prevalence of three to five cases per 10,000 in the general population.MethodsTo measure the frequency of high-confidence mutations presumed to be causative in ADPKD and autosomal dominant polycystic liver disease (ADPLD) and estimate lifetime ADPKD prevalence, w
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Doğan, Mustafa, Mehmet Koksal, and Recep Eroz. "Heterozygous c.1730G > C (p.Trp577Ser) variation in a case with familial hypercholesterolemia." Acta Facultatis Medicae Naissensis 39, no. 4 (2022): 496–501. http://dx.doi.org/10.5937/afmnai39-35609.

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Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with a very rare heterozygous c.1730G &gt; C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore
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Bennett, Caitlin A., Slavé Petrovski, Karen L. Oliver, and Samuel F. Berkovic. "ExACtly zero or once." Neurology Genetics 3, no. 4 (2017): e163. http://dx.doi.org/10.1212/nxg.0000000000000163.

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Objective:To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population.Methods:We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals. We subsequently evaluated variants in these epilepsy genes that lacked strong segregat
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Books on the topic "Autosomal dominant variation in globin genes"

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Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have subst
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Dixon, Bradley P., J. Christopher Kingswood, and John J. Bissler. Tuberous sclerosis complex renal disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0330.

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting almost all organs. It has wider phenotypic variation than often appreciated, with less than half showing the combination of characteristic facial angiofibromas, epilepsy, and mental retardation. Renal angiomyolipomata or cysts are found in 90% and renal failure was historically a common mode of adult death from the disease. Pulmonary lymphangioleiomyomatosis is restricted to females. Angiomyolipomata or cystic disease, or both, may cause renal failure. Angiomyolipomata may also haemorrhage, especially from lar
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Book chapters on the topic "Autosomal dominant variation in globin genes"

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Wybranska, Iwona. "Genetic Markers of Endothelial Dysfunction." In Endothelial Dysfunction - A Novel Paradigm [Working Title]. IntechOpen, 2023. http://dx.doi.org/10.5772/intechopen.109272.

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The rate of endothelial dysfunction is influenced by genetic variation and thus inherited in families. Genetic disorders, such as familial hypercholesterolemia and homocystinuria, are at risk for premature atherosclerosis, and exhibit early endothelial dysfunction. The known spectrum of mutations in LDL receptor, APOB and PCSK9 gene represent the monogenic dominant hypercholesterolemia. An autosomal recessive form of hypercholesterolaemia in the caused by homozygous mutations in the LDL-R adaptor protein. The polygenic hypercholesterolaemia for patients with a clinical diagnosis of FH is based
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