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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | 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 | 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 Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
by Lord, Jenny and McMullan, Dominic J and Eberhardt, Ruth Y and Rinck, Gabriele and Hamilton, Susan and Hamilton, Susan J and Quinlan-Jones, Elizabeth and Prigmore, Elena and Keelagher, Rebecca and Best, Sunayna K and Carey, Georgina K and Carey, Georgina and Mellis, Rhiannon and Robart, Sarah and Berry, Ian R and Chandler, Kate E and Cilliers, Deirdre and Cresswell, Lara and Edwards, Sandra L and Gardiner, Carol and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Lester, Tracey and Lester, Tracy and Lewis, Rebecca A and Lewis, Rebecca and Newbury-Ecob, Ruth and Prescott, Katrina and Quarrell, Oliver W and Ramsden, Simon C and Roberts, Eileen and Tapon, Dagmar and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Parker, Michael and Williams, Denise and Jenkins, Lucy and Scott, Richard H and Kilby, Mark D and Chitty, Lyn S and Hurles, Matthew E and Maher, Eamonn R and Bateman, Mark and Campbell, Carolyn and Campbell, Jenni and Cohen, Kelly and Collingwood, Emma and Constantinou, Panayiotis and Delmege, Catherine and Ellis, Richard and Evans, Jerry and Everett, Thomas and Pinto, Clare F and Forrester, Natalie and Fowler, Emma and Healey, Karen and Hudson, Rebecca and Marton, Tamas and Mehta, Sarju and Park, Soo-Mi and Rowland, Jayne and Steer, James and Taylor, Emma J and Wilson, Elizabeth and Prenatal Assessment Genomes Exomes and Prenatal Assessment of Genomes and Exomes Consortium
The Lancet, ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations... 
PRIMARY CILIARY DYSKINESIA | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | MUTATIONS CAUSE | DEFECTS | WHOLE-GENOME | KBG SYNDROME | MOLECULAR FINDINGS | FETUSES | NR2F2 | KABUKI SYNDROME | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Parents | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Ultrasonography | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies
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3. Full Text Understanding the Multi-Dimensional Mental Well-Being in Late Life: Evidence from the Perspective of the Oldest Old Population
by Lara, Elvira and Martín-María, Natalia and Forsman, Anna K and Cresswell-Smith, Johanna and Donisi, Valeria and Ådnanes, Marian and Kaasbøll, Jannike and Melby, Line and Nordmyr, Johanna and Nyholm, Linda and Rabbi, Laura and Amaddeo, Francesco and Miret, Marta
Journal of Happiness Studies, ISSN 1389-4978, 02/2019, pp. 1 - 20
The promotion, maintenance, and improvement of well-being among the oldest old population is becoming a great public health concern. This study aimed to... 
Nursing homes | Natural environment | Health policy | Nurses | Child care services | Well being | Self esteem | Psychosocial factors | Public health
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4. Full Text Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer
by Pal, Raj P and Kockelbergh, Roger C and Pringle, John Howard and Cresswell, Lara and Hew, Roger and Dormer, John P and Cooper, Colin and Mellon, John Kilian and Barwell, Julian G and Hollox, Edward J
BJU International, ISSN 1464-4096, 04/2016, Volume 117, Issue 4, pp. 686 - 696
Objectives To evaluate the immunocytochemical detection of ERG protein in exfoliated cells as a means of identifying patients with prostate cancer (PCa) before... 
prostate cancer | ERG | gene fusions | urine | protein | PCA3 | TMPRSS2-ERG FUSION TRANSCRIPTS | TMPRSS2/ERG | MARKERS | FEATURES | REARRANGEMENT | MEN | UROLOGY & NEPHROLOGY | IMMUNOHISTOCHEMISTRY | Immunohistochemistry | Transcriptional Regulator ERG | Prostatic Neoplasms - pathology | Early Detection of Cancer | Humans | In Situ Hybridization, Fluorescence | Male | Prostatic Neoplasms - diagnosis | Reverse Transcriptase Polymerase Chain Reaction | Prostate - pathology | Adenocarcinoma - diagnosis | Prostatic Neoplasms - urine | Trans-Activators - metabolism | Prostate-Specific Antigen - metabolism | Serine Endopeptidases - metabolism | Biopsy, Large-Core Needle | Genetic research | Cytochemistry | Prostate cancer | Analysis | Cells
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5. Full Text Self-rated wellbeing and general health in final years of life: An exploratory population-based study among the oldest old
by Donisi, V and Tedeschi, F and Kalseth, J and Lara, E and Martín-María, N and Miret, M and Cresswell-Smith, J and Forsman, A.K and Nordmyr, J and Rabbi, L and Wahlbeck, K and Amaddeo, F
Journal of Psychosomatic Research, ISSN 0022-3999, 06/2018, Volume 109, pp. 100 - 100
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6. Self-rated wellbeing and general health in final years of life: An exploratory population-based study among the oldest old
by V Donisi and F Tedeschi and J Kalseth and E Lara and N Martín-María and M Miret and J Cresswell-Smith and AK Forsman and J Nordmyr and L Rabbi and K Wahlbeck and F Amaddeo
Journal of Psychosomatic Research, ISSN 0022-3999, 06/2018, Volume 109, p. 100
Aims: To describe wellbeing and analyse the relationship between psychosocial dimensions of wellbeing and health items such as self-reported physical activity,... 
Activities | Very old | Psychosocial well being | Happiness | Activities of daily living | Physical activity | Communities | Population studies | Multivariate analysis | Selfassessment | Social psychology | Health status | Welfare | Oldest old people | Psychosocial factors | Age | Age differences
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7. Full Text Mixed‐methods approach to exploring patients’ perspectives on the acceptability of a urinary biomarker test in replacing cystoscopy for bladder cancer surveillance
by Tan, Wei Shen and Teo, Chin Hai and Chan, Delcos and Heinrich, Malgorzata and Feber, Andrew and Sarpong, Rachael and Allan, Jennifer and Williams, Norman and Brew‐Graves, Chris and Ng, Chirk Jenn and Kelly, John D and Khetrapal, P and ridhar, A and Baker, H and Ocampo, F and Whotton, N and Dent, K and Pearson, S and Hatton, J and Newton, M and Heeney, E and Green, K and Evans, S and Rogers, M and Dann, A and Cook, J and Cornwell, M and Mills, R and Knight, H and Maher, S and Rane, A and Thomas, S and Reyner, S and Vallejera, G and Adeniran, P and Masood, S and Ridgway, S and Coulding, M and Savill, H and Mccormick, J and Clark, M and Collins, G and Jewers, K and Keith, S and Bowen, G and Hargreaves, J and Riley, K and Srirangam, S and Mistry, R and Chadwick, J and Cocks, S and Hull, R and Loftus, A and Dawson, L and Roberts, H and Main, C and Jain, S and Waymont, C and Rogers, J and Grant, A and Carter, V and Heap, H and Lomas, C and Cooke, P and Baird, Y and Moore, S and Greenslade, S and Margalef, J and Chadbourn, I and Harris, M and Hicks, J and Clitheroe, P and Connolly, S and Hodgkinson, S and Haydock, H and inclair, A and Storr, E and Cogley, L and Natale, S and Lovegrove, W and Smith, S and Smith, K and Hewitt, D and Sriram, R and Atkinson, K and Royle, L and Madine, J and MacLean, K and Walsh, J and Guerdette, M and Hill, M and Payne, D and Power, A and Cannon, J and Devereaux, L and Thompson, A and Scarratt, L and Hodgkiss, T and Johnstone, D and Johnson, J and ... and DETECT II Trial Collaborators and DETECT II trial collaborators
BJU International, ISSN 1464-4096, 09/2019, Volume 124, Issue 3, pp. 408 - 417
Objectives To determine the minimal accepted sensitivity (MAS) of a urine biomarker that patients are willing to accept to replace cystoscopy and to assess... 
questionnaires | blcsm | semi‐structured interviews | diagnostic | biomarker | BladderCancer | patient‐reported outcome measure | patient-reported outcome measure | semi-structured interviews | GUIDELINES | UROLOGY & NEPHROLOGY | Medical research | Analysis | Medicine, Experimental | Cystoscopy | Urinary tract infections | Diagnosis | Bladder cancer | Methods | Cancer | Urine | Demography | Antibiotics | Invasiveness | Biomarkers | Urinary tract | Patients | Urogenital system | Urological Oncology
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8. Full Text 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
by Barber, John C.K and Maloney, Viv K and Huang, Shuwen and Bunyan, David J and Cresswell, Lara and Kinning, Esther and Benson, Anna and Cheetham, Tim and Wyllie, Jonathan and Lynch, Sally Ann and Zwolinski, Simon and Prescott, Laura and Crow, Yanick and Morgan, Rob and Hobson, Emma
European Journal of Human Genetics, ISSN 1018-4813, 01/2008, Volume 16, Issue 1, pp. 18 - 27
The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families... 
MENTAL-RETARDATION | genomic condition | BIOCHEMISTRY & MOLECULAR BIOLOGY | microdeletion 8q22.1 | HYBRIDIZATION | POLYMORPHISM | INVERSION | RECEPTOR-GENE CLUSTERS | duplication 8p23.1 | GENETICS & HEREDITY | CHROMOSOME-8 | ARCHITECTURE | TRIPLICATION | COPY NUMBER VARIATION | REPEATS | Chromosomes, Human, Pair 8 - genetics | Nucleic Acid Hybridization | Molecular Biology | Oligonucleotide Array Sequence Analysis | Humans | In Situ Hybridization, Fluorescence | Infant | Male | Gene Dosage | Pregnancy | Phenotype | Chromosome Aberrations | Cytogenetics | Adult | Female | Abnormalities, Multiple - genetics | Infant, Newborn
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9. Full Text Exercise increases caudate dopamine release and ventral striatal activation in Parkinson's disease
by Sacheli, Matthew A and Neva, Jason L and Lakhani, Bimal and Murray, Danielle K and Vafai, Nasim and Shahinfard, Elham and English, Carolyn and McCormick, Siobhan and Dinelle, Katie and Neilson, Nicole and McKenzie, Jessamyn and Schulzer, Michael and McKenzie, Don C and Appel‐Cresswell, Silke and McKeown, Martin J and Boyd, Lara A and Sossi, Vesna and Stoessl, A. Jon
Movement Disorders, ISSN 0885-3185, 10/2019
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10. Full Text Mental well-being and its determinants among the oldest old
by Lara, E and Martín-María, N and Ådnanes, M and Amaddeo, F and Cresswell-Smith, J and Donisi, V and Forsman, A and Grigoletti, L and Halvorsen, T and Kalseth, J and Kaasbøll, J and Nyholm, L and Melby, L and Nordmyr, J and Rabbi, L and Wahlbeck, K and Miret, M
Journal of Psychosomatic Research, ISSN 0022-3999, 06/2018, Volume 109, pp. 113 - 114
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11. Mental well-being and its determinants among the oldest old
by E Lara and N Martín-María and M Ådnanes and F Amaddeo and J Cresswell-Smith and V Donisi and A Forsman and L Grigoletti and T Halvorsen and J Kalseth and J Kaasbøll and L Nyholm and L Melby and J Nordmyr and L Rabbi and K Wahlbeck and M Miret
Journal of Psychosomatic Research, ISSN 0022-3999, 06/2018, Volume 109, p. 113
Aims: To elucidate the determinants of mental wellbeing among the oldest old in four European countries. Methods: The qualitative study used participatory... 
Social relationships | Nursing homes | Very old | Community centres | Day care centers | Mental disorders | Grandchildren | Mental health | Necessity | Well being | Social factors | Social aspects | Personal development | Quality of life | Optimism | Purpose in life | Ethics | Health status | Sleep | Nursing | Adults | Children | Public health | Content analysis
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12. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Davies, Sally and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Kumar, V.K. Ajith and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Jeffrey C and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Wendy D and Jones, Philip and Jones, Elizabeth and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and ... and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs... 
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | MLL2 | LOSS-OF-FUNCTION | AUTISM | DE-NOVO MUTATIONS | VARIANTS | GENES | DISEASE | SEQUENCE | GENETICS & HEREDITY | DELETIONS | HAPLOINSUFFICIENCY | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Report
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