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slc35a2 (11) 11
science & technology (10) 10
life sciences & biomedicine (9) 9
cdg (5) 5
congenital disorders of glycosylation (5) 5
epilepsy (5) 5
galactose (5) 5
genetic disorders (5) 5
glycosylation (5) 5
humans (5) 5
mutation (5) 5
transferrin (5) 5
female (4) 4
genetic aspects (4) 4
genetics & heredity (4) 4
intellectual disability (4) 4
magnetic resonance imaging (4) 4
phenotype (4) 4
polysaccharides (4) 4
seizures (4) 4
atrophy (3) 3
child (3) 3
congenital diseases (3) 3
congenital glycosylation disorders (3) 3
epileptic encephalopathy (3) 3
genes (3) 3
genetics (3) 3
infantile spasms (3) 3
mass spectrometry (3) 3
neurosciences & neurology (3) 3
pediatrics (3) 3
adolescent (2) 2
adult (2) 2
age (2) 2
age of onset (2) 2
analysis (2) 2
clinical neurology (2) 2
congenital disorder of glycosylation (2) 2
congenital disorders of glycosylation - diagnosis (2) 2
convulsions & seizures (2) 2
deoxyribonucleic acid--dna (2) 2
developmental and epileptic encephalopathy (2) 2
disorders (2) 2
electroencephalography (2) 2
encephalopathy (2) 2
epilepsy - genetics (2) 2
exome (2) 2
gene sequencing (2) 2
glycoproteins (2) 2
infant (2) 2
internal medicine (2) 2
life sciences (2) 2
lipids (2) 2
male (2) 2
medicine, research & experimental (2) 2
monosaccharide transport proteins - genetics (2) 2
mutation - genetics (2) 2
myelination (2) 2
neurology (2) 2
nuclear magnetic resonance--nmr (2) 2
research & experimental medicine (2) 2
spasms, infantile - diagnosis (2) 2
spasms, infantile - genetics (2) 2
2de (1) 1
3112 neurosciences (1) 1
3124 neurology and psychiatry (1) 1
abbreviations apociii apolipoprotein ciii (1) 1
abridged index medicus (1) 1
acth (1) 1
acth therapy (1) 1
adnp (1) 1
ahdc1 (1) 1
alg13 (1) 1
amino acids (1) 1
animals (1) 1
ankrd11 (1) 1
apolipoproteins (1) 1
arid1b (1) 1
astigmatism (1) 1
asxl1 (1) 1
asxl3 (1) 1
atp6v0a2 atpase, h+ transporting, lysosomal v0 subunit a2 (1) 1
autoantigens (1) 1
autoantigens - genetics (1) 1
auts2 (1) 1
average faces (1) 1
b4galt1 β-1,4-galactosyltransferase 1 (1) 1
bcl11a (1) 1
biochemical research methods (1) 1
biochemistry & molecular biology (1) 1
births (1) 1
braf (1) 1
brain - pathology (1) 1
brain - physiopathology (1) 1
brain diseases - etiology (1) 1
brain mosaicism (1) 1
capillary-cataphoresis (1) 1
case report (1) 1
case studies (1) 1
casein kinase ii (1) 1
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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Ahmed, Munaza and Anjum, Uruj and Barnicoat, Angela and Batstone, Paul and Bevan, A. Paul and Blyth, Moira and Canham, Natalie and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Coates, Andrea and Collinson, Morag N and Cooper, Nicola and Cox, Helen and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and De Vries, Dylan and Deshpande, Charu and Devlin, Gemma and Dobbie, Angus and Donnai, Dian and Ellard, Sian and Elmslie, Frances and Fry, Andrew and Gaunt, Lorraine and Gray, Emma and Harrison, Rachel and Harrison, Victoria and Henderson, Alex and Hewitt, Sarah and Holden, Simon and Holder, Susan and Hollingsworth, Georgina and Homfray, Tessa and Hurst, Jane and Jarvis, Joanna and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kinning, Esther and Kivuva, Emma and Kumar, Dhavendra and Ajith Kumar, V.K and Lam, Wayne and Langman, Caroline and Marks, Karen and McConnell, Vivienne and McKee, Shane and McMullan, Dominic J and Mehta, Sarju and Middleton, Anna and Montgomery, Tara and Naik, Swati and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O'Shea, Rosie and Park, Soo-Mi and Patel, Chirag and Payne, Stewart and Phipps, Julie and Pilz, Daniela T and Pottinger, Caroline and Pratt, Norman and Prescott, Katrina and Price, Sue and Rahbari, Raheleh and Raymond, Lucy and Roberts, Jonathan and Roberts, Paul and Selby, Ann and Seller, Anneke and Sheridan, Eamonn and Smith, Kath and Smithson, Sarah and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Turnpenny, Peter and Tysoe, Carolyn and Vogt, Julie and Wellesley, Diana and Wright, Michael and Nellåker, Chris and FitzPatrick, David R and Barrett, Jeffrey C and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
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2. Full Text Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
by Vals, Mari-Anne and Ashikov, Angel and Ilves, Pilvi and Loorits, Dagmar and Zeng, Qiang and Barone, Rita and Huijben, Karin and Sykut-Cegielska, Jolanta and Diogo, Luísa and Elias, Abdallah F and Greenwood, Robert S and Grunewald, Stephanie and van Hasselt, Peter M and van de Kamp, Jiddeke M and Mancini, Grazia and Okninska, Agnieszka and Pajusalu, Sander and Rudd, Pauline M and Rustad, Cecilie F and Salvarinova, Ramona and de Vries, Bert B. A and Wolf, Nicole I and Lefeber, Dirk J and Õunap, Katrin
Journal of inherited metabolic disease, ISSN 0141-8955, 05/2019, Volume 42, Issue 3, pp. 553 - 564
SLC35A2 | Genetics(clinical) | yes | CDG | Genetics | d_article_not_yet_freely_accessible | congenital glycosylation disorders | epileptic encephalopathy | infantile spasms
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3. Full Text Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Journal of inherited metabolic disease, ISSN 0141-8955, 05/2019, Volume 42, Issue 3, p. 553
SLC35A2 | CDG | congenital glycosylation disorders | epileptic encephalopathy | infantile spasms | Journal Article
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4. Full Text SLC35A2-CDG: Novel variant and review
by Quelhas, Dulce and Correia, Joana and Jaeken, Jaak and Azevedo, Luísa and Lopes-Marques, Mónica and Bandeira, Anabela and Keldermans, Liesbeth and Matthijs, Gert and Sturiale, Luisa and Martins, Esmeralda
Molecular genetics and metabolism reports, ISSN 2214-4269, 03/2021, Volume 26, p. 100717
SLC35A2 | Variant | Phenotype | CDG | Congenital disorder(s) of glycosylation | Sequence comparison | IGF1
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5. Full Text De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy
by Kodera, Hirofumi and Nakamura, Kazuyuki and Osaka, Hitoshi and Maegaki, Yoshihiro and Haginoya, Kazuhiro and Mizumoto, Shuji and Kato, Mitsuhiro and Okamoto, Nobuhiko and Iai, Mizue and Kondo, Yukiko and Nishiyama, Kiyomi and Tsurusaki, Yoshinori and Nakashima, Mitsuko and Miyake, Noriko and Hayasaka, Kiyoshi and Sugahara, Kazuyuki and Yuasa, Isao and Wada, Yoshinao and Matsumoto, Naomichi and Saitsu, Hirotomo
Human mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. 1708 - 1714
SLC35A2 | early‐onset epileptic encephalopathy | congenital disorders of glycosylation | Early-onset epileptic encephalopathy | Congenital disorders of glycosylation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | RNA Isoforms | Humans | Infant | Electroencephalography | Spasms, Infantile - genetics | Exome | DNA Mutational Analysis | Facies | Female | Spasms, Infantile - diagnosis | Child | Gene Order | Infant, Newborn | Monosaccharide Transport Proteins - genetics | Cell Line | Gene Expression | Brain - physiopathology | Protein Transport | Magnetic Resonance Imaging | Phenotype | Animals | Age of Onset | Brain - pathology | High-Throughput Nucleotide Sequencing | Mice | Monosaccharide Transport Proteins - chemistry | Mutation | Galactose | Genetic aspects | Index Medicus
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6. Full Text Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
by Bruneel, Arnaud and Cholet, Sophie and Drouin‐Garraud, Valérie and Jacquemont, Marie‐Line and Cano, Aline and Mégarbané, André and Ruel, Coralie and Cheillan, David and Dupré, Thierry and Vuillaumier‐Barrot, Sandrine and Seta, Nathalie and Fenaille, François
Electrophoresis, ISSN 0173-0835, 12/2018, Volume 39, Issue 24, pp. 3123 - 3132
SLC35A2‐CDG | 2DE | SLC35A3‐CDG | congenital disorders of glycosylation | SLC35A2-CDG | SLC35A3-CDG | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Biochemical Research Methods | Chemistry, Analytical | Science & Technology | Genetic disorders | Gene mutations | Analysis | Genes | Glycoproteins | Diagnosis | Apolipoproteins | Mass spectrometry | Methods | Proteins | Transferrin | Congenital diseases | Disorders | Electrophoresis | Lipids | Mutation | Gene sequencing | Life Sciences
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7. Full Text Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
by Vals, M.A and Ashikov, A.M and Ilves, Pilvi and Loorits, Dagmar and Zeng, Q and Barone, R and Vries, B.B.A. de and Lefeber, D.J and Ounap, Katrin and EPGEN Study
Journal of inherited metabolic disease, ISSN 0141-8955, 2019, Volume 42, Issue 3, pp. 553 - 564
SLC35A2 | congenital glycosylation disorders | epileptic encephalopathy | infantile spasms | CDG | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Transferrin | EEG | Epilepsy | Mass spectroscopy | Glycosylation | Substantia alba | Corpus callosum | Pathogenicity | Atrophy | Polysaccharides | Myelination | Mucin | Magnetic resonance imaging | Encephalopathy | Mutation | Galactose | Index Medicus
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8. Full Text SLC35A2-related congenital disorder of glycosylation: Defining the phenotype
by Yates, T. Michael and Suri, Mohnish and Desurkar, Archana and Lesca, Gaetan and Wallgren-Pettersson, Carina and Hammer, Trine B and Raghavan, Ashok and Poulat, Anne-Lise and Møller, Rikke S and Thuresson, Ann-Charlotte and Balasubramanian, Meena
European journal of paediatric neurology, ISSN 1090-3798, 11/2018, Volume 22, Issue 6, pp. 1095 - 1102
SLC35A2 | Developmental and epileptic encephalopathy | Congenital disorders of glycosylation | Intellectual disability | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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9. Full Text High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
by van Scherpenzeel, Monique and Steenbergen, Gerry and Morava, Eva and Wevers, Ron A and Lefeber, Dirk J
Translational research : the journal of laboratory and clinical medicine, ISSN 1931-5244, 2015, Volume 166, Issue 6, pp. 639 - 649.e1
Internal Medicine | PGM1 Phosphoglucomutase 1 | DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 | QTOF Quadrupole Time Of Flight | CDG Congenital Disorders of Glycosylation | SLC35C1 GDP-fucose transporter | B4GALT1 β-1,4-galactosyltransferase 1 | TIEF Transferrin Isoelectric focusing | CMP cytidine monophosphate | HPLC High pressure liquid chromatography | NHS N-Hydroxysuccinimidyl | Tf transferrin | MAN1B1 mannosyl-oligosaccharide 1,2-alpha-mannosidase | MS Mass spectrometry | Tris 2-Amino-2-(hydroxymethyl)-1,3-propanediol | ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 | HUS Hemolytic uremic syndrome | GDP guanosine diphosphate | COG1 component of oligomeric Golgi complex 1 | ESI Electron spray ionization | UDP uridine disphosphate | VPS13B vacuolar protein sorting 13 homolog B | MALDI Matrix assisted laser desorption ionization | PMM2 phosphomannomutase 2 | EDTA Ethylenediaminetetraacetic acid | SLC35A2 UDP-galactose transporter | IEF Isoelectric focusing | LC Liquid Chromatography | MGAT2 mannosyl(α-1,6-)-glycoprotein β-1,2-N-acetylglucosaminyltransferase | CV Coefficient of variation | Abbreviations ApoCIII apolipoprotein CIII | SLC35A1 CMP-sialic acid transporter | CE Capillary electrophoresis | TMEM165 transmembrane protein 165 | Life Sciences & Biomedicine | Medical Laboratory Technology | Medicine, General & Internal | General & Internal Medicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Transferrin - analysis | Congenital Disorders of Glycosylation - classification | Mass Spectrometry - methods | Humans | Congenital Disorders of Glycosylation - diagnosis | Polysaccharides | Transferrin | Genetic disorders | Analysis | Liquid chromatography | Galactose | Mass spectrometry | Usage | High performance liquid chromatography | Index Medicus | Abridged Index Medicus
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10. Full Text Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
by Bonduelle, Thomas and Hartlieb, Till and Baldassari, Sara and Sim, Nam Suk and Kim, Se Hoon and Kang, Hoon-Chul and Kobow, Katja and Coras, Roland and Chipaux, Mathilde and Dorfmuller, Georg and Adle-Biassette, Homa and Aronica, Eleonora and Lee, Jeong Ho and Blumcke, Ingmar and Baulac, Stephanie
Acta neuropathologica communications, ISSN 2051-5960, 01/2021, Volume 9, Issue 1, pp. 3 - 3
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Pediatrics | Neuropathology | Hyperplasia | Epilepsy | Cloning | Genes | Neurosurgery | Convulsions & seizures | Histopathology | Magnetic resonance imaging | Surgery | Genetic testing | Deoxyribonucleic acid--DNA | Index Medicus | Life Sciences | SLC35A2 gene | Glycosylation | Focal cortical dysplasia | Brain mosaicism | Malformations of cortical development
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11. Full Text A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2 : Clinical features and treatment for epilepsy
by Kimizu, Tomokazu and Takahashi, Yukitoshi and Oboshi, Taikan and Horino, Asako and Koike, Takayoshi and Yoshitomi, Shinsaku and Mori, Tatsuo and Yamaguchi, Tokito and Ikeda, Hiroko and Okamoto, Nobuhiko and Nakashima, Mitsuko and Saitsu, Hirotomo and Kato, Mitsuhiro and Matsumoto, Naomichi and Imai, Katsumi
Brain & development (Tokyo. 1979), ISSN 0387-7604, 2016, Volume 39, Issue 3, pp. 256 - 260
Neurology | SLC35A2 | Early onset epileptic encephalopathy | Skewed X-inactivation | ACTH therapy | CDG | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spasms, Infantile - etiology | Humans | Magnetic Resonance Imaging - methods | Infant | Spasms, Infantile - genetics | Mutation - genetics | Electroencephalography - methods | Epilepsy - complications | Epilepsy - diagnosis | Age of Onset | Epilepsy - genetics | Female | Spasms, Infantile - diagnosis | Brain Diseases - etiology | Congenital Disorders of Glycosylation - genetics | Epilepsy - therapy | Congenital Disorders of Glycosylation - diagnosis | Monosaccharide Transport Proteins - genetics | Drug therapy | Epilepsy | Genetic aspects | Genetic disorders | Encephalopathy | ACTH | Seizures (Medicine) | Index Medicus
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12. Full Text Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: A case report
by Westenfield, Kristen and Sarafoglou, Kyriakie and Speltz, Laura C and Pierpont, Elizabeth I and Steyermark, Joan and Nascene, David and Bower, Matthew and Pierpont, Mary Ella
BMC medical genetics, ISSN 1471-2350, 06/2018, Volume 19, Issue 1, pp. 100 - 100
Congenital disorder of glycosylation | Whole exome sequencing | Transferrin isoforms | Growth failure | SLC35A2 mutation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Case studies | Genetic disorders | Glycosylation | Research | Females | Health aspects | Membrane proteins | Gastroesophageal reflux | Transferrin | Nuclear magnetic resonance--NMR | Congenital diseases | Growth rate | Insulin-like growth factors | Oligosaccharides | Chromatography | Defects | Atrophy | Polysaccharides | Ostomy | N-linked glycans | Mosaicism | Scientific imaging | Mutation | Growth hormone | Galactose | Mass spectrometry | Age | Seizures | Astigmatism | Index Medicus
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