Relevant bibliographies by topics / Compound heterozygotes

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

Academic literature on the topic 'Compound heterozygotes'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Compound heterozygotes"

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Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Bruno Girolami, and Maria L. Randi. "Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery." Cardiovascular & Hematological Disorders-Drug Targets 19, no. 3 (2019): 233–38. http://dx.doi.org/10.2174/1871529x19666190308114842.

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Objective: To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation. Methods: Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered. Results: 30
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Ng, Kevin, Erron W. Titus, Krystien V. Lieve, et al. "An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia." Circulation 142, no. 10 (2020): 932–47. http://dx.doi.org/10.1161/circulationaha.120.045723.

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Background: Genetic variants in calsequestrin-2 ( CASQ2 ) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of CASQ2 -CPVT was sought through an international multicenter collaboration. Methods: Genotype-phenotype segregation in CASQ2 -CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models. Putative dominant CASQ
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Ho, PJ, J. Rochette, CA Fisher, et al. "Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families." Blood 87, no. 3 (1996): 1170–78. http://dx.doi.org/10.1182/blood.v87.3.1170.bloodjournal8731170.

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We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero thalassemia allele and a novel mutation, C-->G in position +33, in the 5′ untranslated region of the beta globin gene. In both families the beta +33 allele is associated with the same beta haplotype (-++- ) suggesting that it is likely to be of a single origin, beta-cDNAs from normal and mutant beta alleles were isolated from peripheral blood reticulocytes using the technique of reverse trans
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Rossi, Enrico, Max K. Bulsara, John K. Olynyk, Digby J. Cullen, Lesa Summerville, and Lawrie W. Powell. "Effect of Hemochromatosis Genotype and Lifestyle Factors on Iron and Red Cell Indices in a Community Population." Clinical Chemistry 47, no. 2 (2001): 202–8. http://dx.doi.org/10.1093/clinchem/47.2.202.

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Abstract Background: Heterozygotes for the C282Y mutation of the HFE gene may have altered hematology indices and higher iron stores than wild-type subjects. Methods: We performed a cross-sectional analysis of 1488 females and 1522 males 20–79 years of age drawn from the Busselton (Australia) population study to assess the effects of HFE genotype, age, gender, and lifestyle on serum iron and hematology indices. Results: Male C282Y heterozygotes had increased transferrin saturation compared with the wild-type genotype. Neither male nor female heterozygotes had significantly increased ferritin v
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Yazdanyar, Shiva, Maren Weischer, and Børge G. Nordestgaard. "Genotyping for NOD2 Genetic Variants and Crohn Disease: a Metaanalysis." Clinical Chemistry 55, no. 11 (2009): 1950–57. http://dx.doi.org/10.1373/clinchem.2009.127126.

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Abstract Background: Arg702Trp, Gly908Arg, and Leu1007fsinsC variants of the NOD2 gene (nucleotide-binding oligomerization domain containing 2; alias, CARD15) influence the risk of Crohn disease. Methods: We conducted a systematic review to examine whether Arg702Trp, Gly908Arg, and Leu1007fsinsC are equally important risk factors for Crohn disease. In addition, we used studies for which combined information from all genotypes was available to compare risks in simple heterozygotes, compound heterozygotes, and homozygotes. PubMed, EMBASE, and Web of Science were searched. Seventy-five articles (
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Rossi, Enrico, John K. Olynyk, Digby J. Cullen, et al. "Compound Heterozygous Hemochromatosis Genotype Predicts Increased Iron and Erythrocyte Indices in Women." Clinical Chemistry 46, no. 2 (2000): 162–66. http://dx.doi.org/10.1093/clinchem/46.2.162.

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Abstract Background: Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have increased serum iron indices and hemoglobin and are less likely to develop iron deficiency compared with women with the wild-type genotype. Methods: We performed a cross-sectional analysis of 497 women 20–44 years of age and 830 women >51 years of age drawn from the Busselton (Australia) population study to assess the effects of the HFE genotype on serum iron and hematology indices. Results: Heterozygosity for the C282Y mutation occurred in 13.8% of the study population, comprising 11.8
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Alcalay, R. N., A. Siderowf, R. Ottman, et al. "Olfaction in Parkin heterozygotes and compound heterozygotes: The CORE-PD study." Neurology 76, no. 4 (2010): 319–26. http://dx.doi.org/10.1212/wnl.0b013e31820882aa.

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Felice, Alexander, Joseph Borg, Wilma Cassar, et al. "Hb F Malta I in Association with Hb F Sardinia (AyT) and Hb Valletta in Heterozygotes: Quantification of the Six Globins Suggests Developmental Control of the XMN-I Site and Interplay with the (AT)xTy Sequence in Connection with Globin Gene Switching." Blood 108, no. 11 (2006): 3830. http://dx.doi.org/10.1182/blood.v108.11.3830.3830.

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Abstract Although the precise biochemical mechanisms of globin gene switching remain elusive, considerable insight is gained by in vivo expression profiling through quantification of the hemoglobin / globin phenotype of informative heterozygosities and homozygosities / compound heterozygosities in the context of specific regulatory DNA sequence diversity such as the XMN-I or the [(AT)xTy] sequence polymorphisms. The quantification of normal and abnormal globins of Hb F Malta-I (or a2b2, 117(G19)His>Arg) heterozygotes which are in tight linkage disequilibrium with Hb Valletta (or a2b2 287(f3
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Suh, Ji Hyung, Ik Hee Ryu, Jin Pyo Hong, et al. "Phenotypes of Granular Corneal Dystrophy Type 2 among Koreans in Their Twenties." Journal of the Korean Ophthalmological Society 63, no. 12 (2022): 965–72. http://dx.doi.org/10.3341/jkos.2022.63.12.965.

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Purpose: Granular corneal dystrophy type 2 (GCD2) is a hereditary disease that features granular and lattice stromal deposits in the cornea. There are homozygotes and heterozygotes and the opacities are exacerbated by corneal trauma or surgery, such as laser in situ keratomileusis (LASIK). As there is individual variability in GCD2 phenotypes, we investigated various corneal features of GCD2 patients in their twenties, the main age group for refractive surgery.Methods: From genetically confirmed GCD2 patients who had an R124H mutation of the transforming growth factor β induced (<i>TGFBI
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Di Taranto, Maria Donata, Carola Giacobbe, Alessio Buonaiuto, et al. "A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia." Journal of Clinical Medicine 9, no. 1 (2020): 219. http://dx.doi.org/10.3390/jcm9010219.

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Homozygous familial hypercholesterolemia (HoFH), the severest form of familial hypercholesterolemia (FH), is characterized by very high LDL-cholesterol levels and a high frequency of coronary heart disease. The disease is caused by the presence of either a pathogenic variant at homozygous status or of two pathogenic variants at compound heterozygous status in the LDLR, APOB, PCSK9 genes. We retrospectively analyzed data of 23 HoFH patients (four children and 19 adults) identified during the genetic screening of 724 FH patients. Genetic screening was performed by sequencing FH causative genes a
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Dissertations / Theses on the topic "Compound heterozygotes"

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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and Angela Hübner. "Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-134512.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with norm
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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and Angela Hübner. "Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation." Karger, 2008. https://tud.qucosa.de/id/qucosa%3A27575.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with norm
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Bolt, Isabel Bettina. "High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and [delta]F508 /." [S.l : s.n.], 1998. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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Monteiro, Nelson Cristóvão de Oliveira. "A novel MYO7A compound heterozygous mutation in an USH1 portuguese patiant : a translational multidisciplinary study." Master's thesis, 2015. http://hdl.handle.net/10316/31069.

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Dissertação de mestrado em Biotecnologia Farmacêutica, apresentada à Faculdade de Farmácia da Universidade de Coimbra<br>Usher syndrome is an autosomal recessive disease characterized by the association of retinitis pigmentosa and sensorineural hearing loss with or without vestibular dysfunction. Prevalence for this disease was estimated to be 3-4 per 100,000 individuals. Distinguished by clinical features, Usher syndrome can be divided in three types, where Usher syndrome type 1 is the most severe form. Causing disease mutations were reported in 10 genes, 6 of them associated to Usher syndro
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Murawski, Emily M. "Assessment of Cerebellar and Hippocampal Morphology and Biochemical Parameters in the Compound Heterozygous, Tottering/leaner Mouse." 2009. http://hdl.handle.net/1969.1/ETD-TAMU-2009-12-7380.

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Due to two different mutations in the gene that encodes the a1A subunit of voltage-activated CaV 2.1 calcium ion channels, the compound heterozygous tottering/leaner (tg/tgla) mouse exhibits numerous neurological deficits. Human disorders that arise from mutations in this voltage dependent calcium channel are familial hemiplegic migraine, episodic ataxia-2, and spinocerebellar ataxia 6. The tg/tgla mouse exhibits ataxia, movement disorders and memory impairment, suggesting that both the cerebellum and hippocampus are affected. To gain greater understanding of the many neurological abnormalitie
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Roncador, Alessandro. "THE DEFICIT OF ALANINE:GLYOXYLATE AMINOTRANSFERASE LEADS TO PRIMARY HYPEROXALURIA TYPE I: A BIOCHEMICAL STUDY TO UNDERSTAND THE ROLE OF INTERALLELIC COMPLEMENTATION IN COMPOUND HETEROZYGOUS PATIENTS AND TO PROJECT THE DEVELOPMENT OF AN ENZYME ADMINISTRATION THERAPY." Doctoral thesis, 2014. http://hdl.handle.net/11562/723363.

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Iperossaluria Primaria tipo I ( PH1 ) è una rara malattia autosomica recessiva caratterizzata da un elevato livello di ossalato nelle urine , che provoca la formazione di cristalli insolubili di ossalato di calcio dapprima nei reni e delle vie urinarie e , in assenza di un adeguato trattamento , in tutto il corpo . PH1 è causata da un deficit dell'enzima epatico Alanina: Gliossilato aminotransferasi ( AGT ). AGT è un enzima piridossal 5' - fosfato perossisomi ( PLP )-dipendente che converte il gliossilato in glicina, impedendo così l'ossidazione gliossilato di ossalato e la successiva formazio
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Book chapters on the topic "Compound heterozygotes"

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Gusfield, Dan, and Rasmus Nielsen. "Association Mapping for Compound Heterozygous Traits Using Phenotypic Distance and Integer Programming." In Lecture Notes in Computer Science. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-662-48221-6_10.

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Penzien, J. M., F. Nüssel, S. Gsell, F. Vassella, and N. Herschkowitz. "Störung des Sulfatidmetabolismus und MRI-Veränderungen bei 2 Compound-Heterozygoten für metachromatische Leukodystrophie (MLD)." In Aktuelle Neuropädiatrie 1989. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-93411-7_16.

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Belachew, Dina, Traci Kazmerski, Ingrid Libman, et al. "Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures." In JIMD Reports. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_217.

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Petukhova, D. A., E. E. Gurinova, A. L. Sukhomyasova, and N. R. Maksimova. "Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta." In Bioinformatics Research and Applications. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57821-3_4.

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Jacobsen, Jessie C., Whitney Whitford, Brendan Swan, et al. "Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair." In JIMD Reports. Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_73.

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Ido, Masaru, Tatsuya Hayashi, Junji Nishioka, and Koji Suzuki. "Hereditary Thrombophilia Caused by Abnormality of the Anticoagulant Protein C Pathway: Prenatal Diagnosis of Compound Heterozygous Protein C Deficiency by Direct Detection of the Mutation Sites." In Pulmonary Embolism. Springer Japan, 1999. http://dx.doi.org/10.1007/978-4-431-66893-0_2.

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Selim, Cem. "Hemophilia B." In Coagulation Disorders - Innovative Developments in Diagnostic and Therapeutic Approaches [Working Title]. IntechOpen, 2025. https://doi.org/10.5772/intechopen.1007363.

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The bleeding disorder known as hemophilia B (HB) is caused by a deficiency or abnormality in the blood clotting factor IX (FIX) gene, which is inherited in an X-linked manner. This disease results from one of more than 1000 classified pathogenic variations in the FIX gene F9, and genetic missense and frameshift changes predominate. HB predominantly affects males, while heterozygous females may present with excessive bleeding resulting from random or nonrandom inactivation of the X chromosome. In addition, homozygous, compound heterozygous, and hemizygous females have been reported. Evidence of
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"Compound Heterozygote." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_3460.

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Galdzicka, Marzena, Janice A. Egeland,, and Edward I. Ginns. "EVC and EVC2 and the Ellis–van Creveld Syndrome and Weyers Acrofacial Dysostosis." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0178.

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Abstract Ellis–van Creveld syndrome, EvC, is an inherited, autosomal recessive, chondrodysplastic dwarfism, frequently associated with congenital heart disease. The consistently observed clinical manifestations include short-limbed disproportionate dwarfism, shortened ribs, postaxial polydactyly, and dysplastic nails and teeth. Weyers acrofacial dysostosis is an autosomal dominant disorder sharing the hallmark manifestations of EvC, but with a less severe presentation and without cardiac abnormalities. Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous cond
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Escher, Pascal. "NR2E3-Linked Retinal Degenerations." In Genetic Diseases of the Eye, 3rd ed. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197659403.003.0035.

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Abstract NR2E3 (nuclear receptor, class 2, subfamily E, member 3; OMIM #604485) encodes the photoreceptor-specific nuclear receptor NR2E3/PNR. During the development of photoreceptors, this transcription factor has a dual function: it acts as a repressor of cone-specific gene expression in rod photoreceptors and as an activator of rhodopsin gene expression. Homozygous or compound heterozygous pathogenic variants in NR2E3 cause the recessively inherited enhanced S-cone syndrome (ESCS; OMIM #268100), also described as S-cone hypersensitivity syndrome, Goldmann-Favre syndrome (GFS) and clumped pi
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Conference papers on the topic "Compound heterozygotes"

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Klauser, Anna-Lena, Miriam Erlacher, and Wibke G. Janzarik. "Pathogenic Compound-Heterozygous PARN Variant Mimicking Pontocerebellar Hypoplasia Type 2A." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739580.

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Zorn, S., J. von Schnurbein, K. Kohlsdorf, C. Denzer, and M. Wabitsch. "Diagnostische und therapeutische Odyssee von zwei Patienten mit compound heterozygotem Leptinrezeptor-Defekt." In Abstracts des Adipositas-Kongresses 2020 zur 36. Jahrestagung der Deutschen Adipositas Gesellschaft e.V. (DAG). © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1714485.

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Fromme, M., CV Schneider, K. Hamesch, et al. "Leberphänotyp bei Erwachsenen mit compound-heterozygotem Alpha1-Antitrypsin-Mangel (Genotyp Pi*SZ)." In 37. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0040-1721992.

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Paulus, Wolfgang, Eva-Maria Mair, Ulrike Friebe-Hoffmann, Krisztian Lato, and Reiner Siebert. "Fetale Hypokinesie mit Arthrogryposis multiplex bei Compound Heterozygotie im KIF21A-Gen." In 46. Dreiländertreffen der DEGUM in Zusammenarbeit mit ÖGUM & SGUM. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0043-1772309.

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Leys, L. E., D. Nelson, S. Donaldson, and A. Thomas. "Moderately Severe Acute Chest Syndrome in Compound Heterozygous Sickle Cell Disease." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a7202.

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Walia, Sargun, and Xiaowei Su. "Brody myopathy associated with novel compound heterozygous ATP2A1 mutations (P6-8.015)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202716.

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Mair, Eva-Maria, Harald Ehrhardt, Sebahattin Cirak, Wolfgang Paulus, and Reiner Siebert. "Compound Heterozygotie im KIF21A-Gen als Ursache eines fetalen Akinesie-Syndroms mit Arthrogrypose." In Abstracts zur 49. Jahrestagung der Gesellschaft fär Neonatologie und Pädiatrische Intensivmedizin (GNPI). Georg Thieme Verlag KG, 2023. http://dx.doi.org/10.1055/s-0043-1769330.

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Fromme, M., CV Schneider, K. Hamesch, et al. "Europäische Multicenter-Studie: Leberphänotyp bei Erwachsenen mit compound-heterozygotem Alpha1-Antitrypsin-Mangel (Genotyp Pi*SZ)." In DGVS Digital: BEST OF DGVS. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1716042.

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Sinha, Ian, Chris Ritchieson, David Heaf, and David Lacy. "A Novel Compound Heterozygote Mutation Leading To Surfactant Metabolism Dysfunction Presenting As Childhood Interstitial Lung Disease." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a6735.

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Abusrair, Ali, Gabriel Amorelli, and Justyna Sarna. "Identification of novel compound heterozygous mutation in Niemann-Pick disease type C gene (P14-11.006)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000204241.

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