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1. Full Text Mélanie Gélinas
: Plonger au fond de soi
by Pépin, Elsa
Entre les lignes, ISSN 1710-8004, 2008, Volume 5, Issue 1, pp. 9 - 9
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2. Full Text The 2017 international classification of the Ehlers-Danlos syndromes
by Malfait, F and Francomano, C and Byers, P and Belmont, J and Berglund, B and Black, J and Bloom, L and Bowen, J.M and Brady, A.F and Burrows, N.P and Castori, M and Cohen, H and Colombi, M and Demirdas, S and Backer, J. De and Paepe, A. De and Fournel-Gigleux, S and Frank, M and Ghali, N and Giunta, C and Grahame, R and Hakim, A and Jeunemaitre, X and Johnson, D and Juul-Kristensen, B and Kapferer-Seebacher, I and Kazkaz, H and Kosho, T and Lavallee, M.E and Levy, H and Mendoza-Londono, R and Pepin, M and Pope, F.M and Reinstein, E and Robert, L and Rohrbach, M and Sanders, L and Sobey, G.J and Damme, T. Van and Vandersteen, A and Mourik, C. van and Voermans, N.C and Wheeldon, N and Zschocke, J and Tinkle, B
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, ISSN 1552-4868, 2017, Volume 175, Issue 1, pp. 8 - 26
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint... 
collagen | Ehlers–Danlos syndromes | classification | genetic basis | MUSCULOSKELETAL PAIN | FORM | Ehlers-Danlos syndromes | PAPULES | VARIANT | JOINT HYPERMOBILITY SYNDROME | GENE | NOSOLOGY | GENETICS & HEREDITY | PROPENSITY | MUTATIONS | DIAGNOSTIC-CRITERIA | Ehlers-Danlos Syndrome - classification | Ehlers-Danlos Syndrome - genetics | Humans | Collagen - genetics | Connective Tissue Diseases - genetics | Ehlers-Danlos Syndrome - diagnosis | Mutation | Genetic Heterogeneity | Practice Guidelines as Topic | Enzymes | Genetic variability | Genes | Disorders | Criteria | Fragility | Proteins | Consortia | Connective tissues | Heterogeneity | Collagen | Classification | Skin | Diagnosis | Life Sciences | Genetics | Human genetics
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3. Full Text Safety and immunogenicity of a quadrivalent inactivated influenza vaccine in adults
by Pépin, Stéphanie and Donazzolo, Yves and Jambrecina, Alen and Salamand, Camille and Saville, Melanie
Vaccine, ISSN 0264-410X, 2013, Volume 31, Issue 47, pp. 5572 - 5578
Highlights • Phase 3 trial of quadrivalent (QIV) and trivalent (TIV) influenza vaccine in adults. • Antibody responses to QIV were non-inferior to TIV... 
Allergy and Immunology | Vaccine | Quadrivalent | Trivalent | Safety | Immunogenicity | Influenza | ANTIBODY REACTIVITY | STRAINS | MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNE-RESPONSE | DISTINCT EVOLUTIONARY LINEAGES | IMMUNOLOGY | CHILDREN | B VIRUSES | NEED | SEASONAL INFLUENZA | Influenza Vaccines - administration & dosage | Humans | Middle Aged | Influenza Vaccines - adverse effects | Male | Antibodies, Viral - blood | Drug-Related Side Effects and Adverse Reactions - epidemiology | Hemagglutination Inhibition Tests | Young Adult | Vaccines, Inactivated - adverse effects | Vaccines, Inactivated - immunology | Influenza Vaccines - immunology | Vaccines, Inactivated - administration & dosage | Adolescent | Aged, 80 and over | Adult | Female | Aged | Influenza, Human - prevention & control | Influenza vaccines | Adults | Safety and security measures | Confidence intervals | Immunization | Licenses | Vaccines | Production capacity | Age
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4. Full Text WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
by Pyott, Shawna M and Tran, Thao T and Leistritz, Dru F and Pepin, Melanie G and Mendelsohn, Nancy J and Temme, Renee T and Fernandez, Bridget A and Elsayed, Solaf M and Elsobky, Ezzat and Verma, Ishwar and Nair, Sreelata and Turner, Emily H and Smith, Joshua D and Jarvik, Gail P and Byers, Peter H
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 590 - 597
Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture.... 
CYCLOPHILIN-B | GENETICS & HEREDITY | CATENIN | HUMANS | RECEPTOR-RELATED PROTEIN-5 | PHENOTYPES | DIFFERENTIATION | LETHAL | IDENTIFICATION | PROTOONCOGENE | DEFICIENCY | Wnt1 Protein - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Infant | Male | Mutation - genetics | Disease Progression | Young Adult | Pedigree | Adult | Female | Osteogenesis Imperfecta - pathology | Child | RNA sequencing | Care and treatment | Gene mutations | Analysis | Osteogenesis imperfecta | Research | Diagnosis | Protein-protein interactions | Osteoporosis | Fractures | RNA | Collagen | Low density lipoproteins | Genomics | Medical genetics | Bones | Genetic aspects | Density | Protein binding | Report
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5. Full Text Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome
by Byers, Peter H and Belmont, John and Black, James and De Backer, Julie and Frank, Michael and Jeunemaitre, Xavier and Johnson, Diana and Pepin, Melanie and Robert, Leema and Sanders, Lynn and Wheeldon, Nigel
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2017, Volume 175, Issue 1, pp. 40 - 47
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture... 
Ehlers–Danlos syndrome | vascular EDS | aterial rupture | Ehlers-Danlos syndrome | VARIANTS | GENE | III COLLAGEN | GENETICS & HEREDITY | RUPTURE | COMPLICATIONS | MODEL | Vascular Diseases | Humans | Ehlers-Danlos Syndrome - therapy | Disease Management | Collagen Type III - genetics | Ehlers-Danlos Syndrome - diagnosis | Practice Guidelines as Topic | Hypertension | Medical colleges | Travel | Emergency medicine | Medical genetics | Aneurysms | Diagnosis | Procollagen | Complications | Feature recognition | Rupture | Radiation | Organs | Disorders | Health risks | Emergency management | Doppler effect | Uterus | Intestine | Genetics | Blood pressure | Dissection | Ultrasound | Emergency medical services
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6. Full Text The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
by Pepin, Melanie G and Murray, Mitzi L and Bailey, Samuel and Leistritz-Kessler, Dru and Schwarze, Ulrike and Byers, Peter H
Genetics in Medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 20 - 24
Purpose: Genetic testing has shifted from academic laboratories with expertise in specific genes to commercial laboratories that offer tests of a diverse array... 
gene sequence variants of unknown significance | laboratory interpretation | concordance | RECOMMENDATIONS | MUTATION DATABASE | GENETICS & HEREDITY | Genetic Variation | Data Interpretation, Statistical | Reproducibility of Results | Genetic Association Studies | Gene Frequency | Humans | Genetic Testing - methods | Sequence Analysis, DNA - methods
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7. Full Text What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases
by Pepin, Melanie G and Byers, Peter H
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2015, Volume 169, Issue 4, pp. 307 - 313
Non‐accidental injury (NAI) is a major medical concern in the United States. One of the challenges in evaluation of children with unexplained fractures is that... 
molecular testing osteogenesis imperfecta | recurrent fracture | child abuse | osteogenesis imperfecta | biochemical testing osteogenesis imperfecta | Biochemical testing osteogenesis imperfecta | Osteogenesis imperfecta | Child abuse | Recurrent fracture | Molecular testing osteogenesis imperfecta | DIAGNOSIS | BRUCK-SYNDROME | COLLAGEN | PHENOTYPIC VARIABILITY | IDENTIFICATION | FORMS | 5'-UTR | MUTATION | GENETICS & HEREDITY | FRACTURES | Diagnosis, Differential | Genetic Testing | Osteogenesis Imperfecta - diagnosis | Membrane Proteins - genetics | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Infant | Fractures, Bone - diagnosis | Radiography | Collagen Type I - genetics | Fractures, Bone - etiology | Fractures, Bone - diagnostic imaging | Child Abuse - diagnosis | Collagen | Genomics | Genetic research | Nucleotide sequencing | DNA sequencing
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8. Full Text Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
by Pepin, Melanie and Schwarze, Ulrike and Superti-Furga, Andrea and Byers, Peter H
The New England Journal of Medicine, ISSN 0028-4793, 03/2000, Volume 342, Issue 10, pp. 673 - 680
The clinical diagnosis of Ehlers–Danlos syndrome type IV, the vascular type, is made on the basis of four clinical criteria: easy bruising, thin skin with... 
ALLELE | SUBSTITUTION | MEDICINE, GENERAL & INTERNAL | MULTIEXON DELETION | III COLLAGEN | DNA | COL3A1 GENE | COMPLICATIONS | MUTATIONS | PROCOLLAGEN | PREGNANCY | Pregnancy Complications - etiology | Ehlers-Danlos Syndrome - mortality | Vascular Diseases - etiology | Humans | Middle Aged | Child, Preschool | Genotype | Infant | Male | Cause of Death | Intestinal Perforation - etiology | Pregnancy | Ehlers-Danlos Syndrome - complications | Ehlers-Danlos Syndrome - genetics | Phenotype | Pregnancy Complications - mortality | Adolescent | Survival Analysis | Adult | Female | Aged | Mutation | Child | Pregnancy Outcome | Peripheral vascular diseases | Connective tissue diseases | Health aspects | Medical research | Family medical history | Patients | Age
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9. Full Text Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
by Keller, Rachel B and Tran, Thao T and Pyott, Shawna M and Pepin, Melanie G and Savarirayan, Ravi and McGillivray, George and Nickerson, Deborah A and Bamshad, Michael J and Byers, Peter H
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 411 - 419
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At... 
COPII | bone | OASIS | osteogenesis imperfecta | CREB3L1 | Binding sites | bone development | secretion
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10. Full Text Safety, immunogenicity, and lot-to-lot consistency of a quadrivalent inactivated influenza vaccine in children, adolescents, and adults: A randomized, controlled, phase III trial
by Cadorna-Carlos, Josefina B and Nolan, Terry and Borja-Tabora, Charissa Fay and Santos, Jaime and Montalban, M. Cecilia and de Looze, Ferdinandus J and Eizenberg, Peter and Hall, Stephen and Dupuy, Martin and Hutagalung, Yanee and Pépin, Stéphanie and Saville, Melanie
Vaccine, ISSN 0264-410X, 2015, Volume 33, Issue 21, pp. 2485 - 2492
Highlights • Safety profiles in adults and children/adolescents were similar for IIV4 and IIV3. • Antibody responses to IIV4 and IIV3 were similar for... 
Allergy and Immunology | Vaccine | Quadrivalent | Trivalent | Safety | Immunogenicity | Influenza | MEDICINE, RESEARCH & EXPERIMENTAL | RESPONSES | VIRUS | PROTECTION | ANTIBODY | IMMUNOLOGY | Influenza Vaccines - administration & dosage | Double-Blind Method | Humans | Middle Aged | Philippines | Influenza Vaccines - adverse effects | Male | Neutralization Tests | Antibodies, Viral - blood | Drug-Related Side Effects and Adverse Reactions - epidemiology | Drug-Related Side Effects and Adverse Reactions - pathology | Hemagglutination Inhibition Tests | Young Adult | Vaccines, Inactivated - adverse effects | Vaccines, Inactivated - immunology | Influenza Vaccines - immunology | Vaccines, Inactivated - administration & dosage | Adolescent | Adult | Female | Australia | Child | Influenza, Human - prevention & control | Influenza vaccines | Clinical trials | Product development | Immunization | Teenagers | Vaccines
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11. Full Text Initial sequencing and comparative analysis of the mouse genome
by Waterston, Robert H and Lindblad-Toh, Kerstin and Birney, Ewan and Rogers, Jane and Abril, Josep F and Agarwal, Pankaj and Agarwala, Richa and Ainscough, Rachel and Alexandersson, Marina and An, Peter and Antonarakis, Stylianos E and Attwood, John and Baertsch, Robert and Bailey, Jonathon and Barlow, Karen and Beck, Stephan and Berry, Eric and Birren, Bruce and Bloom, Toby and Bork, Peer and Botcherby, Marc and Bray, Nicolas and Brent, Michael R and Brown, Daniel G and Brown, Stephen D and Bult, Carol and Burton, John and Butler, Jonathan and Campbell, Robert D and Carninci, Piero and Cawley, Simon and Chiaromonte, Francesca and Chinwalla, Asif T and Church, Deanna M and Clamp, Michele and Clee, Christopher and Collins, Francis S and Cook, Lisa L and Copley, Richard R and Coulson, Alan and Couronne, Olivier and Cuff, James and Curwen, Val and Cutts, Tim and Daly, Mark and David, Robert and Davies, Joy and Delehaunty, Kimberly D and Deri, Justin and Dermitzakis, Emmanouil T and Dewey, Colin and Dickens, Nicholas J and Diekhans, Mark and Dodge, Sheila and Dubchak, Inna and Dunn, Diane M and Eddy, Sean R and Elnitski, Laura and Emes, Richard D and Eswara, Pallavi and Eyras, Eduardo and Felsenfeld, Adam and Fewell, Ginger A and Flicek, Paul and Foley, Karen and Frankel, Wayne N and Fulton, Lucinda A and Fulton, Robert S and Furey, Terrence S and Gage, Diane and Gibbs, Richard A and Glusman, Gustavo and Gnerre, Sante and Goldman, Nick and Goodstadt, Leo and Grafham, Darren and Graves, Tina A and Green, Eric D and Gregory, Simon and Guigó, Roderic and Guyer, Mark and Hardison, Ross C and Haussler, David and Hayashizaki, Yoshihide and LaHillier, Deana W and Hinrichs, Angela and Hlavina, Wratko and Holzer, Timothy and Hsu, Fan and Hua, Axin and Hubbard, Tim and Hunt, Adrienne and Jackson, Ian and Jaffe, David B and Johnson, L. Steven and Jones, Matthew and Jones, Thomas A and Joy, Ann and Kamal, Michael and Karlsson, Elinor K and ... and Mouse Genome Sequencing Consor and Mouse Genome Sequencing Consortium and Joint Genome Institute (JGI) and Naturvetenskapliga fakulteten and Department of Mathematical Statistics and Institutionen för matematisk statistik and Faculty of Sciences and Göteborgs universitet and Gothenburg University
Nature, ISSN 0028-0836, 12/2002, Volume 420, Issue 6915, pp. 520 - 562
The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical... 
MUTATION-RATE | RADIATION HYBRID MAP | GROWTH-HORMONE | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | INTERSPERSED REPEATS | GENE FAMILY | X-CHROMOSOME INACTIVATION | HOMEOBOX GENE | SINGLE-NUCLEOTIDE POLYMORPHISMS | SEMINAL-VESICLE AUTOANTIGEN | Conserved Sequence - genetics | Proteome - genetics | Species Specificity | Chromosomes, Mammalian - genetics | Genomics | Humans | Synteny | Genes - genetics | RNA, Untranslated - genetics | Pseudogenes - genetics | Neoplasms - genetics | Sex Chromosomes - genetics | Mice - classification | Models, Animal | Multigene Family - genetics | Mice - genetics | Repetitive Sequences, Nucleic Acid - genetics | Physical Chromosome Mapping | Gene Expression Regulation | Selection, Genetic | Mice, Transgenic | Sequence Analysis, DNA | Mice, Knockout | Animals | Mutagenesis | Base Composition | CpG Islands - genetics | Genetic Variation - genetics | Genome | Genome, Human | Evolution, Molecular | Quantitative Trait Loci - genetics | Genetics | Rodents | Genes | Genetik | Biologisk systematik | Microbiology | Mikrobiologi | Cellbiologi | Sannolikhetsteori och statistik | Bioinformatik och systembiologi | Bioinformatics and Systems Biology | Biological Systematics | Probability Theory and Statistics | Cell Biology
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