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science & technology (32) 32
life sciences & biomedicine (30) 30
humans (24) 24
mutation (19) 19
male (18) 18
female (14) 14
child (12) 12
genetics & heredity (11) 11
adult (10) 10
child, preschool (10) 10
genetics (10) 10
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genetic aspects (9) 9
mutation - genetics (9) 9
biological and medical sciences (8) 8
clinical neurology (8) 8
medical sciences (8) 8
neurosciences & neurology (8) 8
genes (7) 7
infant, newborn (7) 7
neurosciences (7) 7
primary ciliary dyskinesia (7) 7
diagnosis (6) 6
dyskinesia (6) 6
genetic disorders (6) 6
muscle, skeletal - pathology (6) 6
neurology (6) 6
abridged index medicus (5) 5
cataract - genetics (5) 5
genetic testing (5) 5
health aspects (5) 5
phenotype (5) 5
agenesis of corpus callosum - genetics (4) 4
biopsy (4) 4
children (4) 4
cilia (4) 4
defects (4) 4
gene mutations (4) 4
genetic screening (4) 4
high-throughput nucleotide sequencing - methods (4) 4
hospitals (4) 4
infant (4) 4
middle aged (4) 4
pedigree (4) 4
proteins (4) 4
retrospective studies (4) 4
young adult (4) 4
alleles (3) 3
amino acid sequence (3) 3
animals (3) 3
atp-binding cassette transporters - genetics (3) 3
biomedical research (3) 3
dermatology (3) 3
dna sequencing (3) 3
dynein (3) 3
dyskeratosis (3) 3
exons (3) 3
genomes (3) 3
genotype (3) 3
ichthyosis, lamellar - genetics (3) 3
life sciences (3) 3
medical genetics (3) 3
medical research (3) 3
microscopy (3) 3
molecular sequence data (3) 3
mosaicism (3) 3
myopathies, structural, congenital - genetics (3) 3
nucleotide sequencing (3) 3
original (3) 3
original articles (3) 3
patients (3) 3
pediatrics (3) 3
research (3) 3
respiratory system (3) 3
sequence deletion (3) 3
[sdv]life sciences [q-bio] (2) 2
abca12 (2) 2
aged (2) 2
agenesis of corpus callosum - diagnosis (2) 2
analysis (2) 2
anesthesia. intensive care medicine. transfusions. cell therapy and gene therapy (2) 2
antigens, neoplasm - genetics (2) 2
autophagy - genetics (2) 2
axonemal dyneins - metabolism (2) 2
base sequence (2) 2
bethlem myopathy (2) 2
biochemistry (2) 2
biochemistry & molecular biology (2) 2
bone marrow, stem cells transplantation. graft versus host reaction (2) 2
cataract - diagnosis (2) 2
childrens health (2) 2
chromosome mapping (2) 2
ciliary motility disorders - genetics (2) 2
cohort studies (2) 2
col6a1 (2) 2
collagen vi (2) 2
consanguinity (2) 2
cross-sectional studies (2) 2
deoxyribonucleic acid--dna (2) 2
diagnostic systems (2) 2
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1. Full Text X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
by Olcese, C and Patel, M.P and Shoemark, A and Kiviluoto, S and Legene, M and Williams, H.J and Vaughan, C.K and Hayward, J and Goldenberg, A and Emes, R.D and Munye, M.M and Dyer, L and Cahill, T and Bevillard, J and Gehrig, C and Guipponi, M and Chantot, S and Duquesnoy, P and Thomas, L and Jeanson, L and Copin, B and Tamalet, A and Thauvin-Robinet, C and Papon, J.F and Garin, A and Pin, I and Vera, G and Aurora, P and Fassad, M.R and Jenkins, L and Boustred, C and Cullup, T and Dixon, M and Onoufriadis, A and Bush, A and Chung, E.M and Antonarakis, S.E and Loebinger, M.R and Wilson, R and Armengot, M and Escudier, E and Hogg, C and Amselem, S and Sun, Z and Bartoloni, L and Blouin, J.L and Mitchison, H.M and Schmidts, M and et al and UK10K Rare Grp and UK10K Rare Group
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Sperm Motility - genetics | Axonemal Dyneins - metabolism | Humans | Child, Preschool | Male | Kartagener Syndrome - genetics | Phylogeny | Cytoplasm - pathology | Axoneme - pathology | HEK293 Cells | Apoptosis Regulatory Proteins - genetics | Cilia - ultrastructure | Adult | Female | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Child | Infant, Newborn | Disease Models, Animal | Microscopy, Electron, Transmission | Cilia - pathology | Genes, X-Linked - genetics | Molecular Chaperones - genetics | Zebrafish | Protein Folding | Apoptosis Regulatory Proteins - metabolism | Whole Exome Sequencing | Point Mutation | Sequence Alignment | Animals | Pedigree | Kartagener Syndrome - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | HSP90 Heat-Shock Proteins - metabolism | Index Medicus | Life Sciences | Genetics
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2. Full Text Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability
by Donkervoort, S and Hu, Y and Stojkovic, T and Voermans, N.C and Foley, A.R and Leach, M.E and Dastgir, J and Bolduc, V and Cullup, T and Becdelievre, A. de and Yang, L and Su, H and Meilleur, K and Schindler, A.B and Kamsteeg, E.J and Richard, P and Butterfield, R.J and Winder, T.L and Crawford, T.O and Weiss, R.B and Muntoni, F and Allamand, V and Bonnemann, C.G
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 48 - 56
collagen VI | genetic counseling | COL6A2 | COL6A1 | COL6A3 | Ullrich congenital muscular dystrophy | Bethlem myopathy | Genetic counseling | Collagen VI | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Collagen Type VI - metabolism | Male | Contracture - genetics | Muscular Dystrophies - genetics | Muscles - pathology | Sclerosis - metabolism | Collagen Type VI - genetics | Young Adult | Sclerosis - pathology | Adult | Female | Child | Muscular Dystrophies - metabolism | Muscular Dystrophies - congenital | Contracture - pathology | Muscular Dystrophies - pathology | Sclerosis - genetics | Contracture - metabolism | Pedigree | Adolescent | Mosaicism | Aged | Mutation | Parenting | Nervous system diseases | Genetic disorders | Gene mutations | Collagen | Analysis | Medical genetics | Genetic aspects | Fibroblasts | Genotype & phenotype | Index Medicus
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3. Primary ciliary dyskinesia with normal ultrastructure: Three-dimensional tomography detects absence of DNAH11
by Shoemark, Amelia and Shoemark, Amelia and Burgoyne, Thomas and Kwan, Robert and Dixon, Mellisa and Patel, Mitali P and Rogers, Andrew V and Onoufriadis, Alexandros and Scully, Juliet and Daudvohra, Farheen and Cullup, Thomas and Cullup, Thomas and Loebinger, Michael R and Wilson, Robert and Wilson, Robert and Chung, Eddie M K and Chung, Eddie M.K and Bush, Andrew and Mitchison, Hannah M and Mitchison, Hannah M and Hogg, Claire and Hogg, Claire
The European respiratory journal, ISSN 0903-1936, 2018, Volume 51, Issue 2, pp. 1701809 - 1701809
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Transmission electron microscopy | Primary ciliary dyskinesia | Ultrastructure | Dynein | Genetic analysis | Tomography | Diagnosis | Mutation | Cilia | Dyskinesia
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4. Full Text Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
by Best, Sunayna and Shoemark, Amelia and Rubbo, Bruna and Patel, Mitali P and Fassad, Mahmoud R and Dixon, Mellisa and Rogers, Andrew V and Hirst, Robert A and Rutman, Andrew and Ollosson, Sarah and Jackson, Claire L and Goggin, Patricia and Thomas, Simon and Pengelly, Reuben and Cullup, Thomas and Pissaridou, Eleni and Hayward, Jane and Onoufriadis, Alexandros and O’Callaghan, Christopher and Loebinger, Michael R and Wilson, Robert and Chung, Eddie MK and Kenia, Priti and Doughty, Victoria L and Carvalho, Julene S and Lucas, Jane S and Mitchison, Hannah M and Hogg, Claire
Thorax, ISSN 0040-6376, 02/2019, Volume 74, Issue 2, pp. 203 - 205
rare lung diseases | paediatric lung disaese | bronchiectasis | primary ciliary dyskinesia | Life Sciences & Biomedicine | Respiratory System | Science & Technology | Heart | Studies | Biomedical research | Hospitals | Congenital diseases | Genes | Cardiovascular disease | Genetics | Mutation | Defects | Dyskinesia | Index Medicus
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5. Full Text Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
by Fassad, Mahmoud R and Shoemark, Amelia and Legendre, Marie and Hirst, Robert A and Koll, France and le Borgne, Pierrick and Louis, Bruno and Daudvohra, Farheen and Patel, Mitali P and Thomas, Lucie and Dixon, Mellisa and Burgoyne, Thomas and Hayes, Joseph and Nicholson, Andrew G and Cullup, Thomas and Jenkins, Lucy and Carr, Siobhán B and Aurora, Paul and Lemullois, Michel and Aubusson-Fleury, Anne and Papon, Jean-François and O’Callaghan, Christopher and Amselem, Serge and Hogg, Claire and Escudier, Estelle and Tassin, Anne-Marie and Mitchison, Hannah M
American journal of human genetics, ISSN 0002-9297, 12/2018, Volume 103, Issue 6, pp. 984 - 994
dynein | mutation | tomography | motile cilia | DNAH9 | situs inversus | primary ciliary dyskinesia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Respiratory System - pathology | Amino Acid Sequence | Humans | Axonemal Dyneins - genetics | Child, Preschool | Male | Mutation - genetics | Cilia - genetics | Sequence Alignment | Adolescent | Situs Inversus - genetics | Dyneins - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Ciliary Motility Disorders - genetics | Rare diseases | Usage | Gene mutations | Cilia and ciliary motion | Genetic aspects | Research | Nucleotide sequencing | Diagnosis | DNA sequencing | Index Medicus | Life Sciences | Report
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6. Full Text Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
by Scoto, Mariacristina and Cullup, Thomas and Cirak, Sebahattin and Yau, Shu and Manzur, Adnan Y and Feng, Lucy and Jacques, Thomas S and Anderson, Glenn and Abbs, Stephen and Sewry, Caroline and Jungbluth, Heinz and Muntoni, Francesco
European journal of human genetics : EJHG, ISSN 1018-4813, 11/2013, Volume 21, Issue 11, pp. 1249 - 1252
nebulin | distal myopathy | next generation sequencing | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Distal Myopathies - pathology | Humans | Muscle, Skeletal - ultrastructure | Child, Preschool | Male | Mutation - genetics | Muscle Proteins - genetics | Magnetic Resonance Imaging | Distal Myopathies - genetics | Phenotype | Biopsy | Age of Onset | Adult | Muscle, Skeletal - pathology | High-Throughput Nucleotide Sequencing - methods | Child | Infant, Newborn | Neuromuscular diseases | Nuclear magnetic resonance--NMR | Exons | Genes | Childrens health | Rods | Genomes | Leg | Feet | N.M.R | Hospitals | Magnetic resonance imaging | Clonal deletion | Scoliosis | Nemaline myopathy | Alleles | Genetics | Children | Mutation | Age | Myopathy | Index Medicus
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7. Full Text 14 Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
by Steel, Edward and Hurst, Jane and Cullup, Thomas and Calder, Alistair and Sivakumar, Branavan and Shah, Pratik and Wilson, Louise
Archives of disease in childhood, ISSN 0003-9888, 11/2020, Volume 105, Issue Suppl 2, pp. A5 - A5
Pediatrics | Epidermal growth factor | Genetic disorders | Computed tomography | Syndactyly | Dysostosis | Transmembrane domains | Mutation | Hypoglycemia | Siblings
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8. Full Text 17 Using whole genome sequencing to make new diagnoses in paediatrics: successes, challenges and lifelong learning
by Menzies, Lara and Morrogh, Deborah and Cullup, Thomas and Buckton, Andrew and Clement, Emma and Kumar, Ajith and Hurst, Jane
Archives of disease in childhood, ISSN 0003-9888, 11/2019, Volume 104, Issue Suppl 4, p. A7
Pediatrics | Phenotypes | Genomes | Patients | Genetic screening | Cohen syndrome | Microencephaly | DNA microarrays | Bone dysplasia | Skeleton | Children | Diagnosis | Genotypes
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9. Full Text Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
by Cullup, Thomas and Kho, Ay Lin and Dionisi-Vici, Carlo and Brandmeier, Birgit and Smith, Frances and Urry, Zoe and Simpson, Michael A and Yau, Shu and Bertini, Enrico and McClelland, Verity and Al-Owain, Mohammed and Koelker, Stefan and Koerner, Christian and Hoffmann, Georg F and Wijburg, Frits A and ten Hoedt, Amber E and Rogers, R. Curtis and Manchester, David and Miyata, Rie and Hayashi, Masaharu and Said, Elizabeth and Soler, Doriette and Kroisel, Peter M and Windpassinger, Christian and Filloux, Francis M and Al-Kaabi, Salwa and Hertecant, Jozef and del Campo, Miguel and Buk, Stefan and Bodi, Istvan and Goebel, Hans-Hilmar and Sewry, Caroline A and Abbs, Stephen and Mohammed, Shehla and Josifova, gana and Gautel, Mathias and Jungbluth, Heinz
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Antigens, Neoplasm - genetics | Humans | Muscle, Skeletal - ultrastructure | Genes, Recessive | Exome | Lysosomes - metabolism | Proteins - metabolism | Biopsy | Agenesis of Corpus Callosum - genetics | Cataract - genetics | Family | Consanguinity | Autophagy - genetics | Muscle, Skeletal - pathology | Mutation | Autophagy (Cytology) | Genetic disorders | Gene mutations | Syndromes | Genetic aspects | Health aspects | Multiple abnormalities | Cell culture | Biomedical research | Homeostasis | Kinases | Autophagy | Defects | Proteins | Studies | Musculoskeletal system | Microscopy | Genetics | Charitable foundations | Index Medicus
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10. Full Text Reply
by Sowden, Jane C and Patel, Aara and Dahlmann-Noor, Annegret and Cullup, Thomas and Jenkins, Lucy
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 04/2020, Volume 127, Issue 4, pp. e22 - e23
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11. Full Text Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
by Byrne, Susan and Cullup, Thomas and Fanto, Manolis and Gautel, Mathias and Jungbluth, Heinz
Brain (London, England : 1878), ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e53 - e53
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cataract - genetics | Mutation | Agenesis of Corpus Callosum - genetics | Humans | Index Medicus | Abridged Index Medicus
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12. Full Text Reply: Aberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome
by Byrne, Susan and Cullup, Thomas and Fanto, Manolis and Gautel, Mathias and Jungbluth, Heinz
Brain (London, England : 1878), ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e53 - e53
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13. Full Text Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
by Fassad, Mahmoud R and Shoman, Walaa I and Morsy, Heba and Patel, Mitali P and Radwan, Nesrine and Jenkins, Lucy and Cullup, Thomas and Fouda, Eman and Mitchison, Hannah M and Fasseeh, Nader
Clinical genetics, ISSN 0009-9163, 03/2020, Volume 97, Issue 3, pp. 509 - 515
phenotype | genetics | primary ciliary dyskinesia | Egypt | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Medical research | Gene mutations | Children's hospitals | Genetic research | Medicine, Experimental | Developing countries | Nucleotide sequencing | Genetic screening | Movement disorders | DNA sequencing | Primary ciliary dyskinesia | Genetic testing | Mutation | Developing countries--LDCs | Cilia | Dyskinesia | Index Medicus
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14. Full Text High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
by Shoemark, Amelia and Moya, Eduardo and Hirst, Robert A and Patel, Mitali P and Robson, Evelyn A and Hayward, Jane and Scully, Juliet and Fassad, Mahmoud R and Lamb, William and Schmidts, Miriam and Dixon, Mellisa and Patel-King, Ramila S and Rogers, Andrew V and Rutman, Andrew and Jackson, Claire L and Goggin, Patricia and Rubbo, Bruna and Ollosson, Sarah and Carr, Siobhán and Walker, Woolf and Adler, Beryl and Loebinger, Michael R and Wilson, Robert and Bush, Andrew and Williams, Hywel and Boustred, Christopher and Jenkins, Lucy and Sheridan, Eamonn and Chung, Eddie M K and Watson, Christopher M and Cullup, Thomas and Lucas, Jane S and Kenia, Priti and O’Callaghan, Christopher and King, Stephen M and Hogg, Claire and Mitchison, Hannah M
Thorax, ISSN 0040-6376, 02/2018, Volume 73, Issue 2, pp. 157 - 166
mutation | CCDC103 | genetic testing | respiratory tract | diagnosis | cilia | primary ciliary dyskinesia | Life Sciences & Biomedicine | Respiratory System | Science & Technology | Pakistan - ethnology | Microtubule-Associated Proteins - genetics | Humans | Asian Continental Ancestry Group - genetics | Child, Preschool | Male | United Kingdom | Kartagener Syndrome - genetics | Mutation - genetics | Kartagener Syndrome - ethnology | Young Adult | Adolescent | Adult | Female | Child | Cohort Studies | Medical tests | Care and treatment | Usage | Genetic aspects | Kartagener syndrome | Diagnosis | Proteins | Motility | Microscopy | Genes | Diagnostic tests | Biochemistry | Mutation | Medical diagnosis | Patients | Defects | Dyskinesia | Index Medicus
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