UAB Digital Repository of Documents 71 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
1.
13 p, 1.4 MB The site frequency/dosage spectrum of autopolyploid populations / Ferretti, Luca (The Pirbright Institute) ; Ribeca, Paolo (The Pirbright Institute) ; Ramos-Onsins, Sebastián E. (Centre de Recerca en Agrigenòmica)
The Site Frequency Spectrum (SFS) and the heterozygosity of allelic variants are among the most important summary statistics for population genetic analysis of diploid organisms. We discuss the generalization of these statistics to populations of autopolyploid organisms in terms of the joint Site Frequency/Dosage Spectrum and its expected value for autopolyploid populations that follow the standard neutral model. [...]
2018 - 10.3389/fgene.2018.00480
Frontiers in genetics, Vol. 9 (Oct. 2018) , art. 480  
2.
8 p, 1.0 MB pSBVB : A versatile simulation tool to evaluate genomic selection in polyploid species / Zingaretti, María L. (Centre de Recerca en Agrigenòmica) ; Monfort Vives, Amparo (Centre de Recerca en Agrigenòmica) ; Pérez-Enciso, Miguel (Centre de Recerca en Agrigenòmica)
Genomic Selection (GS) is the procedure whereby molecular information is used to predict complex phenotypes and it is standard in many animal and plant breeding schemes. However, only a small number of studies have been reported in horticultural crops, and in polyploid species in particular. [...]
2019 - 10.1534/g3.118.200942
G3: Genes, genomes, genetics, Vol. 9, Issue 2 (February 2019) , p. 327-334  
3.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ; Barakat, Bushra A.Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital 12 Octubre. Department of Pediatric Endocrinology & Dysmorphology) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; GOSgene (UCL Great Ormond Street Institute of Child Health) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children, Toronto) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Center. Department of Genetics) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine)
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  
4.
36 p, 3.1 MB From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia / Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Moreno-Mendoza, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Rajmil, Osvaldo (Institut d'Investigació Biomèdica Sant Pau) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Blanco, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodríguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública) ; Ruiz-Castañé, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Purpose: in about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. [...]
2019 - 10.1038/s41436-018-0037-1
Genetics in Medicine, Vol. 21, issue 1 (Jan. 2019) , p. 189-194  
5.
9 p, 1.1 MB Hidden MHC genetic diversity in the Iberian ibex (Capra pyrenaica) / Angelone, Samer ; Jowers, Michael J. (Campus Agrario De Vairão) ; Molinar Min, Anna Rita ; Fandos, Paulino ; Prieto, Paloma (Parque Natural Sierras de Cazorla, Segura y Las Villas) ; Pasquetti, Mario ; Cano-Manuel, Francisco Javier (Espacio Natural Sierra Nevada) ; Mentaberre, Gregorio (Universitat Autònoma de Barcelona.) ; López Olvera, Jorge R. (Universitat Autònoma de Barcelona. Servei d'Ecopatologia de Fauna Salvatge) ; Ráez-Bravo, Arián ; Espinosa, José ; Pérez, Jesús M. ; Soriguer, Ramón C. ; Rossi, Luca ; Granados, José Enrique (Espacio Natural Sierra Nevada)
Defining hidden genetic diversity within species is of great significance when attempting to maintain the evolutionary potential of natural populations and conduct appropriate management. Our hypothesis is that isolated (and eventually small) wild animal populations hide unexpected genetic diversity due to their maintenance of ancient polymorphisms or introgressions. [...]
2018 - 10.1186/s12863-018-0616-9
BMC Genetics, Vol. 19 (may 2018)  
6.
7 p, 481.9 KB Risk category system to identify pituitary adenoma patients with AIP mutations / Caimari, Francisca (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya). Departament d'Endocrinologia) ; Hernández-Ramírez, Laura Cristina (Queen Mary University of London. William Harvey Research Institute) ; Dang, Mary N (Queen Mary University of London. William Harvey Research Institute) ; Gabrovska, Plamena (Queen Mary University of London. William Harvey Research Institute) ; Iacovazzo, Donato (Queen Mary University of London. William Harvey Research Institute) ; Stals, Karen (Royal Devon & Exeter Hospital) ; Ellard, Sian (Royal Devon & Exeter Hospital) ; Korbonits, Márta (Queen Mary University of London. William Harvey Research Institute) ; Universitat Autònoma de Barcelona
Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbon receptor-interacting protein (AIP) mutations in patients with pituitary adenomas. [...]
2018 - 10.1136/jmedgenet-2017-104957
Journal of medical genetics, Vol. 55, issue 4 (April 2018) , p. 254-260  
7.
12 p, 2.3 MB Genotyping by sequencing in almond : SNP discovery, linkage mapping, and marker sesign / Goonetilleke, Shashi N. (The University of Adelaide. School of Agriculture, Food and Wine) ; March, Timothy J. (The University of Adelaide. School of Agriculture, Food and Wine) ; Wirthensohn, Michelle G. (The University of Adelaide. School of Agriculture, Food and Wine) ; Arús i Gorina, Pere (Centre de Recerca en Agrigenòmica) ; Walker, Amanda R. (The University of Adelaide. School of Agriculture, Food and Wine) ; Mather, Diane E. (The University of Adelaide. School of Agriculture, Food and Wine)
In crop plant genetics, linkage maps provide the basis for the mapping of loci that affect important traits and for the selection of markers to be applied in crop improvement. In outcrossing species such as almond (Prunus dulcis Mill. [...]
2017 - 10.1534/g3.117.300376
G3: genes, genomics, genetics, Vol. 8, issue 1 (Jan. 2018) , p. 161-172  
8.
14 p, 2.2 MB A pathway-centered analysis of pig domestication and breeding in Eurasia / Leno-Colorado, Jordi (Centre de Recerca en Agrigenòmica) ; Hudson, Nick J. (University of Queensland. School of Agriculture and Food Science) ; Reverter, Antonio (Commonwealth Scientific and Industrial Research Organisation) ; Pérez-Enciso, Miguel (Centre de Recerca en Agrigenòmica)
Ascertaining the molecular and physiological basis of domestication and breeding is an active area of research. Due to the current wide distribution of its wild ancestor, the wild boar, the pig (Sus scrofa) is an excellent model to study these processes, which occurred independently in East Asia and Europe ca. [...]
2017 - 10.1534/g3.117.042671
G3: genes, genomics, genetics, Vol. 7 (July 2017) , p. 2171-2184  
9.
33 p, 1.5 MB Molecular Population Genetics / Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia) ; Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia) ; Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí"
Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. [...]
2017 - 10.1534/genetics.116.196493
Genetics, Vol. 205, Issue 3 (March 2017) , p. 1003-1035  
10.
23 p, 2.2 MB Discovery of a new family of relaxases in Firmicutes bacteria / Gayetri Ramachandran, Andrés (Centro de Biología Molecular Severo Ochoa) ; Miguel Arribas, Andrés (Centro de Biología Molecular Severo Ochoa) ; Abia, David (Centro de Biología Molecular Severo Ochoa) ; Singh, Praveen K. (Centro de Biología Molecular Severo Ochoa) ; Crespo García, Isidro (ALBA Laboratori de Llum de Sincrotró) ; Gago-Córdoba, César (Centro de Biología Molecular Severo Ochoa) ; Hao, Jian An (Centro de Biología Molecular Severo Ochoa) ; Luque-Ortega, Juan Roman (Centro de Investigaciones Biológicas (Madrid)) ; Alfonso, Carlos (Centro de Investigaciones Biológicas (Madrid)) ; Wu, Ling J. (Newcastle University. Institute for Cell and Molecular Biosciences. Centre for Bacterial Cell Biology) ; Boer, D. Roeland (ALBA Laboratori de Llum de Sincrotró) ; Meijer, Wilfried J. J. (Centro de Biología Molecular Severo Ochoa)
Antibiotic resistance is a serious global problem. Antibiotic resistance genes (ARG), which are widespread in environmental bacteria, can be transferred to pathogenic bacteria via horizontal gene transfer (HGT). [...]
2017 - 10.1371/journal.pgen.1006586
PLoS Genetics, Vol. 13, issue 2 (Feb. 2017) , e1006586  

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