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GUILHERME E. L. LÓPEZ, RENAN CARRENHO, and CRISTIANO F. SCHWERTNER
- Zootaxa. 4958:654-662
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Animal Science and Zoology and Ecology, Evolution, Behavior and Systematics
- Abstract
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Dinidor jograziae sp. nov., is described. The new species can be recognized by the relatively shorter mandibular plates which do not come in contact with each other anterior to the clypeus, by the dark brown hemelytral membranes, with darker, reticulate veins, and by having a relatively large portion of the connexiva exposed. We provide high-resolution photographs of important characters such as the head, pronotum, and the male and female external genitalia. We also provide new locality records for D. saucius from southern and southeastern Brazil, including the Atlantic Rain Forest region in the states of Rio de Janeiro, Santa Catarina and São Paulo.
2. Dinidor saucius Stal. The 1870 [2021]
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López, Guilherme E. L., Carrenho, Renan, and Schwertner, Cristiano F.
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Biodiversity, Taxonomy, Animalia, Arthropoda, Insecta, Hemiptera, Dinidoridae, Dinidor, and Dinidor saucius
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Dinidor saucius Stål 1870 Dinidor saucius Stål: 79; Lethierry and Severin, 1893: 235; Kirkaldy, 1909: 254; Schouteden, 1913: 5; Durai, 1987: 228, 231–232. 1873 Cyclopelta saucia: Walker: 27. 2015 Dinidor mactabilis: Schwertner and Grazia: 822, 827, 849, figs.; Genevcius et al., 2016: 1–4. Distribution. BRAZIL: Espírito Santo, Rio de Janeiro (Cachoeiras de Macacu [new rec.], Itatiaia [new rec.], and Rio de Janeiro); Santa Catarina (Joinville [new rec.]); São Paulo (Barueri [new rec.], Óleo [new rec.], Santos [new rec.], São Bernardo do Campo, São Paulo [new rec.]). Material examined. Brasil, SP, São Bernardo do Campo, Acampamento dos Engenheiros 23°44’52’’S, 46°38’13.71’’W, 11–12.Nov.2010, Bio de Campo UNIFESP (1♀); [Brasil] Barueri, São Paulo — Brasil, 28. III.1955, K. Lenko col. (1♀); Brasil, Joinville, S[an]ta. Catarina, Dirings col. [Agt 1956, in the back of the label] (2♀); Brasil, Joinville, Rio Bracinho, S[an]ta Catarina, Museu Dirings col. [Mar 1956, written in the back of the label] (1♀); [Brazil] Horto Florestal, São Paulo —S.P., Brasil — 13.IV.1962, Lenko & Reichardt col. (2♀); [Brazil] 1.XII.1954, Barueri (Est. S.P.), K. Lenko leg. (1♀); Brasil São Paulo, Est. SP.—J. J. Ferraciolli, leg., 30.II.1954 (1♀); Brasil, Santos, Est[ado] S. Paulo, Dirings col. [Nov 1950, written in the back of the label] (2♀); [Brazil] Horto Florestal, São Paulo —S.P., Brasil — 13.IV.1962, Lenko & Reichardt col. (4♂); Brasil, Joinville, S[an]ta Catarina, Dirings col. [Agt 1956 written in the back of the label] (2♂); Brasil, Santos, Est[ado] S[ão] Paulo, Dirings col. [Nov 1950, written in the back of the label] (1♂); [Brazil] Barueri, São Paulo — Brasil, 28. III.1955, K. Lenko col. (1♂); Brasil, Joinville, S[an]ta Catarina, II-54, Dirings col. (1♂). Itatiaia, E[stado] do Rio-Brasil, J. F. Zikán col., 7.IV.[19]31 (18♀ ♂); Brasil, RJ Estado, Local Ipanema, Col. J. Jurberg, Data X-[19]91, Nº (1♂); Brasil —Estado PR, Local Óleo, Col. Cunha, Data 01/[19]96, Nº (1♂); Brazil, Rio de Jan[eiro], Acc[ess] No. 2966 Nov [ember], CJ Drake coll. 1956 (1♀). [Brazil] Rio [de Janeiro], PR Uhler Collection, no date (1♀ 2♂). * the species D. braziliensis and D. Impicticollis have unique colouration within the genus Dinidor; see text for explanation. ** Except for D. jograziae, body length measurements based on Durai (1987). Comments. The study of the specimens allows us to conclude that the correct identification of the species cited in Genevcius et al. (2016) is actually D. saucius. Some diagnostic characteristics pointed out by Durai (1987) in her key to separate D. mactabilis and D. saucius, for instance the colouration of the costal margin of the corium, are incongruent with the type specimens of both species, and the additional material examined. Indeed, the costal margins of hemelytra in red, orange or light brown is a characteristic seen in every species of the genus Dinidor, and cannot be used to separate the species. Some of the other characters used to diagnose the species, such as the width of the median coloured stripe along the pronotum, showed great variation within the species, and are not reliable for the correct identification of both species, D. mactabilis and D. saucius. Diagnostic characters for the five species of Dinidor with similar colouration (excluding D. braziliensis and D. impicticollis) are presented in Table 1. Prior to this work, the distribution of D. saucius has been scarcely addressed. Stål (1870) described the species from Rio de Janeiro (Brazil).Although Durai (1987) only mention Brazil for the distribution of D. saucius, additional material examined by the author were collected in the neighbouring State of Espírito Santo (dashed in the map), expanding the distribution of the species. Rolston et al. (1996) only cited Rio de Janeiro, and as the two previous works, no specific locality information was provided. Genevcius et al. (2016) recorded D. saucius (as D. mactabilis, see above) from the state of São Paulo (São Bernardo do Campo). Aside from the new locality records from the states of Rio de Janeiro and São Paulo, we extend the known distribution of D. saucius southwards by at least 600km, to the state of Santa Catarina. The distribution pattern of D. saucius seems to include only the Atlantic Rain Forest region, in southern and southeastern Brazil (Fig. 9).
Published as part of López, Guilherme E. L., Carrenho, Renan & Schwertner, Cristiano F., 2021, Description of a new species of Dinidor Latreille (Hemiptera: Dinidoridae) from the Brazilian Amazon Rainforest, and new records of D. saucius Stål, pp. 654-662 in Zootaxa 4958 (1) on pages 658-660, DOI: 10.11646/zootaxa.4958.1.40, http://zenodo.org/record/4692744
{"references":["Stal, C. (1870) Enumeratio Hemipterorum. Bidrag till en foreteckning ofver alla hittils kanda Hemiptera jemte systematiska meddelanden. Enumeratio Dinidorinorum. In: Kungliga Svenska vetenskaps-akademiens handlingar. Bd. 9. No. 1. P. A. Norstedt, Stockholm, pp. 79 - 89.","Schouteden, H. (1913) Heteroptera. Fam. Pentatomidae. Subfam. Dinidorinae, the genera with lists of species. Genera Insectorum, Fasc. 153, 1 - 19, 2 pls.","Durai, P. S. S. (1987) A Revision of the Dinidoridae of the World (Heteroptera: Pentatomoidea). Oriental Insects, 21 (1), 163 - 360. https: // doi. org / 10.1080 / 00305316.1987.11835477","Genevcius, B. C., Carrenho, R. & Schwertner, C. F. (2016) Dinidor mactabilis (Perty, 1833): first record of Dinidoridae (Hemiptera: Pentatomoidea) in the state of Sao Paulo, Brazil. Check List, 12 (3), 1 - 4. https: // doi. org / 10.15560 / 12.3.1900","Rolston, L. H., Rider, D. A., Murray, M. J. & Aalbu, R. L. (1996) Catalog of the Dinidoridae of the world. Papua New Guinea Journal of Agriculture, Forestry and Fisheries, 39 (1), 22 - 101."]}
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Valenti L, Corradini E, Adams LA, Aigner E, Alqahtani S, Arrese M, Bardou-Jacquet E, Bugianesi E, Fernandez-Real JM, Girelli D, Hagström H, Henninger B, Kowdley K, Ligabue G, McClain D, Lainé F, Miyanishi K, Muckenthaler MU, Pagani A, Pedrotti P, Pietrangelo A, Prati D, Ryan JD, Silvestri L, Spearman CW, Stål P, Tsochatzis EA, Vinchi F, Zheng MH, and Zoller H
Nature reviews. Endocrinology [Nat Rev Endocrinol] 2023 Feb 17. Date of Electronic Publication: 2023 Feb 17.
- Abstract
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Hyperferritinaemia is a common laboratory finding that is often associated with metabolic dysfunction and fatty liver. Metabolic hyperferritinaemia reflects alterations in iron metabolism that facilitate iron accumulation in the body and is associated with an increased risk of cardiometabolic and liver diseases. Genetic variants that modulate iron homeostasis and tissue levels of iron are the main determinants of serum levels of ferritin in individuals with metabolic dysfunction, raising the hypothesis that iron accumulation might be implicated in the pathogenesis of insulin resistance and the related organ damage. However, validated criteria for the non-invasive diagnosis of metabolic hyperferritinaemia and the staging of iron overload are still lacking, and there is no clear evidence of a benefit for iron depletion therapy. Here, we provide an overview of the literature on the relationship between hyperferritinaemia and iron accumulation in individuals with metabolic dysfunction, and on the associated clinical outcomes. We propose an updated definition and a provisional staging system for metabolic hyperferritinaemia, which has been agreed on by a multidisciplinary global panel of expert researchers. The goal is to foster studies into the epidemiology, genetics, pathophysiology, clinical relevance and treatment of metabolic hyperferritinaemia, for which we provide suggestions on the main unmet needs, optimal design and clinically relevant outcomes.
(© 2023. Springer Nature Limited.)
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Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, and Gordon CT
Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 353-356.
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Humans, Heart Defects, Congenital, and Truncus Arteriosus, Persistent
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Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, and Husain RA
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2352-2359. Date of Electronic Publication: 2021 Aug 27.
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Cross-Sectional Studies, Disease Progression, Humans, Phenotype, Leukoencephalopathies diagnostic imaging, and Leukoencephalopathies genetics
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Purpose: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AARS1-related disease.
Methods: A cross-sectional survey was performed on individuals with biallelic variants in AARS1. Clinical data, neuroimaging, and genetic testing results were reviewed. Alanyl tRNA synthetase (AlaRS) activity was measured in available fibroblasts.
Results: We identified 11 affected individuals. Two phenotypic presentations emerged, one with early infantile-onset disease resembling the index cases of AARS1-related epileptic encephalopathy with deficient myelination (n = 7). The second (n = 4) was a later-onset disorder, where disease onset occurred after the first year of life and was characterized on neuroimaging by a progressive posterior predominant leukoencephalopathy evolving to include the frontal white matter. AlaRS activity was significantly reduced in five affected individuals with both early infantile-onset and late-onset phenotypes.
Conclusion: We suggest that variants in AARS1 result in a broader clinical spectrum than previously appreciated. The predominant form results in early infantile-onset disease with epileptic encephalopathy and deficient myelination. However, a subgroup of affected individuals manifests with late-onset disease and similarly rapid progressive clinical decline. Longitudinal imaging and clinical follow-up will be valuable in understanding factors affecting disease progression and outcome.
(© 2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.)
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Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, and Tartaglia M
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
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Adolescent, Autism Spectrum Disorder genetics, Autism Spectrum Disorder pathology, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders physiopathology, DNA Methylation genetics, Epigenesis, Genetic genetics, Female, Haploinsufficiency genetics, Humans, Intellectual Disability genetics, Intellectual Disability physiopathology, Male, Neurodevelopmental Disorders genetics, Neurodevelopmental Disorders physiopathology, Phenotype, Young Adult, Chromosome Disorders genetics, Chromosomes, Human, Pair 1 genetics, Chromosomes, Human, X genetics, DNA-Binding Proteins genetics, and RNA-Binding Proteins genetics
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Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome. The clinical profile of this disease includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females. SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions.
(Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
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Edghill, E. L., Stals, K., Oram, R. A., Shepherd, M. H., Hattersley, A. T., and Ellard, S.
- Diabetic Medicine. Jan 2013, Vol. 30 Issue 1, p114, 4 p.
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Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, and Bellen HJ
American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1096-1112. Date of Electronic Publication: 2020 Nov 23.
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Adolescent, Animals, Child, Child, Preschool, Drosophila Proteins genetics, Drosophila melanogaster, Female, Genes, Dominant, Genetic Variation, Haploinsufficiency, Humans, Infant, Male, Microscopy, Confocal, Neuroglia metabolism, Neurons metabolism, Protein Binding, Zebrafish, Zebrafish Proteins genetics, Chromosomal Proteins, Non-Histone genetics, Developmental Disabilities genetics, Mutation, Missense, Phenotype, and Tumor Suppressor Proteins genetics
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SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial features, and fifth digit/nail hypoplasia that are caused by pathogenic variants in genes that encode for members of the SWI/SNF (or BAF) family of chromatin remodeling complexes. We have identified 12 individuals with rare variants (10 loss-of-function, 2 missense) in the BICRA (BRD4 interacting chromatin remodeling complex-associated protein) gene, also known as GLTSCR1, which encodes a subunit of the non-canonical BAF (ncBAF) complex. These individuals exhibited neurodevelopmental phenotypes that include developmental delay, intellectual disability, autism spectrum disorder, and behavioral abnormalities as well as dysmorphic features. Notably, the majority of individuals lack the fifth digit/nail hypoplasia phenotype, a hallmark of most SSRIDDs. To confirm the role of BICRA in the development of these phenotypes, we performed functional characterization of the zebrafish and Drosophila orthologs of BICRA. In zebrafish, a mutation of bicra that mimics one of the loss-of-function variants leads to craniofacial defects possibly akin to the dysmorphic facial features seen in individuals harboring putatively pathogenic BICRA variants. We further show that Bicra physically binds to other non-canonical ncBAF complex members, including the BRD9/7 ortholog, CG7154, and is the defining member of the ncBAF complex in flies. Like other SWI/SNF complex members, loss of Bicra function in flies acts as a dominant enhancer of position effect variegation but in a more context-specific manner. We conclude that haploinsufficiency of BICRA leads to a unique SSRIDD in humans whose phenotypes overlap with those previously reported.
(Copyright © 2020 American Society of Human Genetics. All rights reserved.)
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Luciana Weiler, Augusto Ferrari, and Jocelia Grazia
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Biodiversity, Taxonomy, Animalia, Arthropoda, Insecta, Hemiptera, Pentatomidae, Animal Science and Zoology, Ecology, Evolution, Behavior and Systematics, biology.organism_classification, biology, Taxonomy (biology), Zoology, Heteroptera, Pentatominae, and Key (lock)
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Weiler, Luciana, Ferrari, Augusto, Grazia, Jocelia (2011): Contributions to the knowledge of Euschistus (Lycipta) with the description of E. (L.) riograndensis sp. nov. (Hemiptera: Heteroptera: Pentatomidae: Pentatominae: Carpocorini). Zootaxa 3067: 59-64, DOI: 10.5281/zenodo.207439
{"references":["Baker, A.D. (1931) A study of the male genitalia of Canadian species of Pentatomidae. Canadian journal of Research, 4, 148- 220.","Dupuis, C. (1970) Heteroptera. In: Tuxen S.L. (Ed.), Taxonomist's glossary of genitalia in insects. Munksgaard, Copenhagen, pp. 190-209.","Ferrari, A.; Schwertner, C.F. & Grazia, J. (2010) Review, cladistic analysis and biogeography of Nezara Amyot & Serville (Hemiptera: Pentatomidae). Zootaxa, 2424, 1-41.","Grazia, J. & Hildebrand, R. (1982) Revisao do genero Berecynthus Stal, 1862 (Heteroptera, Pentatomidae, Pentatomini). Revista Brasileira de Entomologia 26, 173-182.","Grazia, J. & Hildebrand R. (1983) Uma nova especie de Euschistus Dallas, 1851 (Heteroptera, Pentatomidae). Iheringia, Serie Zoologia, 62, 81-88.","Piran, A.A. (1963) Hemiptera neotropica IX. Especies nuevas y no mencionadas para las faunas de Peru, Brasil y Bolivia. Physis, 24(67), 219-222.","Rolston, L.H. (1982) A revision of Euschistus Dallas subgenus Lycipta Stal (Hemiptera: Pentatomidae). Proceedings of the Entomological Society of Washington, 84, 281-296.","Rolston, L.H. (1984) Key to the males of the nominate subgenus of Euschistus in South America, with descriptions of three new species (Hemiptera: Pentatomidae). Journal of the New York Entomological Society, 92, 352-364.","Schaefer, C.W. (1977) Genital capsule of the trichophoran male (Hemiptera: Heteroptera: Geocorisae). International Journal of Insect Morphology & Embryology, 6, 277-301.","Stal, C. (1860-1862a) Bidrag till Rio Janeiro-traktens, Hemipter-fauna. Kongliga Svenska Vetenskaps-Akademiens Handlingar, 2(7), 1-84, 3(6), 1-75.","Stal, C. (1862b) Hemiptera Mexicana enumeravit speciesque novas descripsit. Stettiner Entomologische Zeitung, 23, 81-462.","Stal, C. (1872) Enumeratio Hemipterorum 2. Kongliga Svenska Vetenskaps-Akademiens Handlingar, 10, 1-159.","Thomas, D.B. (1983) A note on the homonymy of Euschistus luridus Dallas 1851. (Hemiptera: Pentatomidae). Proceedings of the Entomological Society of Washington, 85(1), 182.","Weiler, L.M. (2011). Analise cladistica e descricao de uma nova especie para o subgenero Lycipta Stal, 1862 (Hemiptera, Pentatomidae, Carpocorini, Euschistus). Programa de Pos-Graduacao em Biologia Animal, Universidade Federal do Rio Grande do Sul, Porto Alegre. (Dissertacao de Mestrado), 97 pp."]}
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Safronov, A. A., Movchan, M. A., Dub, V. S., Ioffe, A. V., Bazaev, E. L., and Pridein, A. A.
- Steel in Translation. Feb, 2016, Vol. 46 Issue 2, p150, 9 p.
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