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Annals of the Rheumatic Diseases, ISSN 0003-4967, 01/2016, Volume 75, Issue 1, pp. e2 - e2
Journal Article
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
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 01/2016, Volume 75, Issue 1, pp. e2 - E2
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 84 - 84
The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase beta or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a... 
G-6-Pase | Congenital cardiac defects | G6PC3 | Ubiquitously expressed glucose-6-phosphatase enzyme | Dursun syndrome | Uro-genital anomalies | Severe congenital neutropenia type 4 | Prominent superficial venous pattern | G-6-Pase 3 | Neutropenia | PULMONARY | MEDICINE, RESEARCH & EXPERIMENTAL | CONGENITAL NEUTROPENIA TYPE-4 | DEFECT | DELETION | GENE | SYNDROMIC NEUTROPENIA | ARTERIAL-HYPERTENSION | DISEASE | GENETICS & HEREDITY | PATIENT | ACCEPTOR | Glycogen Storage Disease Type I - physiopathology | Amino Acid Sequence | Glucose-6-Phosphatase - genetics | Heart Defects, Congenital - etiology | Humans | Leukopenia - genetics | Molecular Sequence Data | Hypertension, Pulmonary - genetics | Male | Sequence Analysis, DNA | Neutropenia - congenital | Glucose-6-Phosphatase - metabolism | Glycogen Storage Disease Type I - diagnosis | Glycogen Storage Disease Type I - epidemiology | Heart Defects, Congenital - genetics | Glycogen Storage Disease Type I - genetics | Female | Heart Septal Defects, Atrial - genetics | Mutation | Neutropenia - genetics | Glucose-6-Phosphatase - chemistry | Glucose-6-phosphate dehydrogenase deficiency | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Diagnosis | Hypertension | Inflammatory bowel disease | Genotype & phenotype | Bacterial infections | Hematology | Genes | Ear diseases | Glucose | Patients
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 507 - 511
Pathogenic CDKL5 variants cause an X‐linked dominant infantile epileptic encephalopathy, predominantly in females. This condition is characterized by an... 
epilepsy | intellectual difficulty | developmental delay | X‐linked inheritance | CDKL5 | X-linked inheritance | C-TERMINUS | PHENOTYPES | ENCEPHALOPATHY | INFANTILE SPASMS | SEIZURES | GENE | GENETICS & HEREDITY | MUTATIONS | Epilepsy | Seizures (Medicine) | Convulsions & seizures | Inheritances | Heredity | Encephalopathy | Phenotypic variations
Journal Article
by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H. Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M.M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E.F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and Fitzpatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Dev Disorders Study and UK10K Consortium and the INTERVAL Study and the Deciphering Developmental Disorders Study and the UK10K Consortium
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1060 - 1065
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low... 
DE-NOVO MUTATIONS | GENOTYPE | DISEASE | GENETICS & HEREDITY | FRAMEWORK | RECURRENCE | DISCOVERY | Genetic variation | Exome sequencing | Development and progression | Congenital heart disease | Genetic aspects | Identification and classification | Health aspects | Methods | Heart | Medical research | Biomedical research | Congenital diseases | Funding | Genes | Genomics | Genomes | RNA polymerase | Kinases | Defects | Autism | Mutation
Journal Article
Immunity, ISSN 1074-7613, 06/2015, Volume 42, Issue 6, pp. 1185 - 1196
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2019, Volume 64, Issue 2, pp. 161 - 170
Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed... 
METHYLATION | GERMLINE | DOMAIN | MLL FAMILY | LANDSCAPE | GENETICS & HEREDITY | CELL-PROLIFERATION | SPECTRUM | KDM6A MUTATIONS | PHD | SINGLE-NUCLEOTIDE POLYMORPHISMS
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 9/2019, p. jmedgenet-2019-106292
Socioeconomic status (SES) is a major determinant of health. We studied the Index of Multiple Deprivation Rank of 473 families with individuals with pathogenic... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2013, Volume 8, Issue 1
The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase [beta] or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a... 
Infection | Enzymes | Genetic disorders | Phosphatases | Gastrointestinal diseases | Genetic aspects | Congenital heart disease | Glucose | Health aspects | Dextrose | Pulmonary hypertension | Glucose-6-phosphate dehydrogenase deficiency | Gene mutations
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2019, Volume 56, Issue 2, pp. 89 - 95
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the... 
Kdm6a | Kmt2d | kabuki syndrome | kabuki make-up syndrome | consensus diagnostic criteria | KMT2D | MAKE-UP-SYNDROME | MUTATIONS | EARS | GENETICS & HEREDITY | KDM6A | Genotype & phenotype | Eyelid | Congenital defects | Intellectual disabilities | Genes | DNA methylation | Diagnosis | Mutation | Genetic screening
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Summary Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of... 
Neurology | DOMAIN | MENTAL-RETARDATION | DISORDERS | DEAFNESS | INFANTILE SEIZURES | MUTATIONS | SPECTRUM | PROTEINS | FOCAL EPILEPSY | CLINICAL NEUROLOGY | Humans | Child, Preschool | Infant | Male | Hearing Loss, Sensorineural - genetics | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Nails, Malformed - genetics | Young Adult |