Search Results - "Bertola, D"

Opportunities and challenges of macrogenetic studies by Leigh, Deborah M., van Rees, Charles B., Millette, Katie L., Breed, Martin F., Schmidt, Chloé, Bertola, Laura D., Hand, Brian K., Hunter, Margaret E., Jensen, Evelyn L., Kershaw, Francine, Liggins, Libby, Luikart, Gordon, Manel, Stéphanie, Mergeay, Joachim, Miller, Joshua M., Segelbacher, Gernot, Hoban, Sean, Paz-Vinas, Ivan

“…The rapidly emerging field of macrogenetics focuses on analysing publicly accessible genetic datasets from thousands of species to explore large-scale patterns…”
Get full text

Human procurement of meat from lion (Panthera leo) kills: Costs of disturbance and implications for carnivore conservation by White, Paula A, Bertola, Laura D, Kariuki, Kennedy, de Iongh, Hans H

“…In Africa, humans and large carnivores compete over access to resources, including prey. Disturbance by humans to kills made by carnivores, often for purposes…”
Get full text

Global determinants of insect mitochondrial genetic diversity by French, Connor M., Bertola, Laura D., Carnaval, Ana C., Economo, Evan P., Kass, Jamie M., Lohman, David J., Marske, Katharine A., Meier, Rudolf, Overcast, Isaac, Rominger, Andrew J., Staniczenko, Phillip P. A., Hickerson, Michael J.

“…Understanding global patterns of genetic diversity is essential for describing, monitoring, and preserving life on Earth. To date, efforts to map macrogenetic…”
Get full text

Whole genome sequencing and the application of a SNP panel reveal primary evolutionary lineages and genomic variation in the lion (Panthera leo) by Bertola, L D, Vermaat, M, Lesilau, F, Chege, M, Tumenta, P N, Sogbohossou, E A, Schaap, O D, Bauer, H, Patterson, B D, White, P A, de Iongh, H H, Laros, J F J, Vrieling, K

“…Previous phylogeographic studies of the lion (Panthera leo) have improved our insight into the distribution of genetic variation, as well as a revised taxonomy…”
Get full text

Genetic guidelines for translocations: Maintaining intraspecific diversity in the lion (Panthera leo) by Bertola, Laura D., Miller, Susan M., Williams, Vivienne L., Naude, Vincent N., Coals, Peter, Dures, Simon G., Henschel, Philipp, Chege, Monica, Sogbohossou, Etotépé A., Ndiaye, Arame, Kiki, Martial, Gaylard, Angela, Ikanda, Dennis K., Becker, Matthew S., Lindsey, Peter

“…Conservation translocations have become an important management tool, particularly for large wildlife species such as the lion (Panthera leo). When planning…”
Get full text

Extensive Population Structure Highlights an Apparent Paradox of Stasis in the Impala (Aepyceros melampus) by Garcia‐Erill, Genís, Wang, Xi, Rasmussen, Malthe S., Quinn, Liam, Khan, Anubhab, Bertola, Laura D., Santander, Cindy G., Balboa, Renzo F., Ogutu, Joseph O., Pečnerová, Patrícia, Hanghøj, Kristian, Kuja, Josiah, Nursyifa, Casia, Masembe, Charles, Muwanika, Vincent, Bibi, Faysal, Moltke, Ida, Siegismund, Hans R., Albrechtsen, Anders, Heller, Rasmus

“…ABSTRACT Impalas are unusual among bovids because they have remained morphologically similar over millions of years—a phenomenon referred to as evolutionary…”
Get full text

Genetic diversity of lion populations in Kenya: Evaluating past management practices and recommendations for future conservation actions by Chege, Mumbi, Sewalt, Bobbie, Lesilau, Francis, Snoo, Geert, Patterson, Bruce D., Kariuki, Linus, Otiende, Moses, Omondi, Patrick, Iongh, Hans, Vrieling, K., Bertola, Laura D.

“…The decline of lions (Panthera leo) in Kenya has raised conservation concerns about their overall population health and long‐term survival. This study aimed to…”
Get full text

Leopard subspecies conservation under climate and land‐use change by Mitchell, Charlotte, Bolam, Jamie, Bertola, Laura D., Naude, Vincent N., Gonçalves da Silva, Lucas, Razgour, Orly

“…Predicting the effects of global environmental changes on species distribution is a top conservation priority, particularly for large carnivores, that…”
Get full text

Two novel pathogenic variants in MED13L: one familial and one isolated case by Carvalho, L. M. L., Costa, S. S., Campagnari, F., Kaufman, A., Bertola, D. R., Silva, I. T., Krepischi, A. C. V., Koiffmann, C. P., Rosenberg, C.

“…Background Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay…”
Get full text

Effect of ecological and anthropogenic factors on grouping patterns in African lions across Kenya by Chege, Mumbi, Bertola, Laura D., De Snoo, Geert R., Ngene, Shadrack, Otieno, Tobias, Amoke, Irene, 't Zelfde, Maarten, Dolrenry, Stephanie, Broekhuis, Femke, Tamis, Will, De Iongh, Hans H., Elliot, Nicholas B.

“…Social carnivores frequently live in fission–fusion societies, where individuals that share a common territory or home range may be found alone, in subgroups,…”
Get full text

Autosomal and mtDNA Markers Affirm the Distinctiveness of Lions in West and Central Africa by Bertola, Laura D, Tensen, Laura, van Hooft, Pim, White, Paula A, Driscoll, Carlos A, Henschel, Philipp, Caragiulo, Anthony, Dias-Freedman, Isabela, Sogbohossou, Etotépé A, Tumenta, Pricelia N, Jirmo, Tuqa H, de Snoo, Geert R, de Iongh, Hans H, Vrieling, Klaas

“…The evolutionary history of a species is key for understanding the taxonomy and for the design of effective management strategies for species conservation. The…”
Get full text

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum by Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

“…Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal…”
Get full text

Stirring up the relationship between quantified environmental DNA concentrations and exoskeleton‐shedding invertebrate densities by Trimbos, Krijn B., Cieraad, Ellen, Schrama, Maarten, Saarloos, Aagje I., Musters, Kees. J. M., Bertola, Laura D., Bodegom, Peter M.

“…The application of eDNA techniques for the detection, monitoring, and conservation of biodiversity holds great promise. While many studies apply eDNA…”
Get full text

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability by Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

“…Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number…”
Get full text

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? by Bertola, DR, Pereira, AC, Brasil, AS, Suzuki, L, Leite, C, Falzoni, R, Tannuri, U, Poplawski, AB, Janowski, KM, Kim, CA, Messiaen, LM

Get full text

An adverse immune-endocrine profile in patients with tuberculosis and type 2 diabetes by Fernández, R, Díaz, A, D’Attilio, L, Bongiovanni, B, Santucci, N, Bertola, D, Besedovsky, H, del Rey, A, Bay, M.L, Bottasso, O., M.D., Ph.D

“…Abstract Diabetes is a risk factor for the development of pulmonary tuberculosis (TB) and both diseases present endocrine alterations likely to play a role in…”
Get full text

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome by de Alencastro, G, McCloskey, D E, Kliemann, S E, Maranduba, C M C, Pegg, A E, Wang, X, Bertola, D R, Schwartz, C E, Passos-Bueno, M R, Sertié, A L

“…We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with…”
Get more information

Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings by Franco, J F, Soares, D C, Torres, L C, Leal, G N, Cunha, M T, Honjo, R S, Bertola, D R, Kim, C A

“…Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme…”
Get full text

African bushpigs exhibit porous species boundaries and appeared in Madagascar concurrently with human arrival by Balboa, Renzo F., Bertola, Laura D., Brüniche-Olsen, Anna, Rasmussen, Malthe Sebro, Liu, Xiaodong, Besnard, Guillaume, Salmona, Jordi, Santander, Cindy G., He, Shixu, Zinner, Dietmar, Pedrono, Miguel, Muwanika, Vincent, Masembe, Charles, Schubert, Mikkel, Kuja, Josiah, Quinn, Liam, Garcia-Erill, Genís, Stæger, Frederik Filip, Rakotoarivony, Rianja, Henrique, Margarida, Lin, Long, Wang, Xi, Heaton, Michael P., Smith, Timothy P. L., Hanghøj, Kristian, Sinding, Mikkel-Holger S., Atickem, Anagaw, Chikhi, Lounès, Roos, Christian, Gaubert, Philippe, Siegismund, Hans R., Moltke, Ida, Albrechtsen, Anders, Heller, Rasmus

“…Several African mammals exhibit a phylogeographic pattern where closely related taxa are split between West/Central and East/Southern Africa, but their…”
Get full text

Introgression and disruption of migration routes have shaped the genetic integrity of wildebeest populations by Liu, Xiaodong, Lin, Long, Sinding, Mikkel-Holger S., Bertola, Laura D., Hanghøj, Kristian, Quinn, Liam, Garcia-Erill, Genís, Rasmussen, Malthe Sebro, Schubert, Mikkel, Pečnerová, Patrícia, Balboa, Renzo F., Li, Zilong, Heaton, Michael P., Smith, Timothy P. L., Pinto, Rui Resende, Wang, Xi, Kuja, Josiah, Brüniche-Olsen, Anna, Meisner, Jonas, Santander, Cindy G., Ogutu, Joseph O., Masembe, Charles, da Fonseca, Rute R., Muwanika, Vincent, Siegismund, Hans R., Albrechtsen, Anders, Moltke, Ida, Heller, Rasmus

“…The blue wildebeest ( Connochaetes taurinus ) is a keystone species in savanna ecosystems from southern to eastern Africa, and is well known for its…”
Get full text