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1. Full Text Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
by Reich, Adi and Simpson, Michael A and King, Mary D and Cross, J. Helen and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and Barrett, Daniel M and Krishnappa, Netravathi and Awada, Jana and Baralle, Diana and Bunyan, David J and Clasper, Susan and Clayton-Smith, Jill and Cresswell, Lara and Donaldson, Alan and Ellis, Ian and Gaunt, Lorraine and He, Liu and Hewitt, Sarah and Hurst, Jane and Kirk, Claire and Kivuva, Emma and Kumar, Dhavendra and Mansour, Sahar and McCann, Emma and McKee, Shane and Mugalaasi, Hood and Murphy, Helen and Newbury-Ecob, Ruth and Parker, Michael J and Pollard, Martin and Pridham, Abigail and Saggar, Anand and Scott, Richard and Shearing, Emma and Smithson, Sarah and Sneddon, Linda and Tatton-Brown, Kate and Thomson, Jenny and Torokwa, Audrey and Varghese, Vinod and Yau, Michael and Artigas, Maria Soler and Boustred, Chris and Evans, David and Flicek, Paul and Hart, Deborah and Langford, Cordelia and Lawson, Daniel and Li, Rui and O'Donnovan, Michael and Parker, Victoria and Paunio, Tiina and Rehnström, Karola and Sun, Jianping and Suvisaari, Jaana and Tachmazidou, Ionna and Tobin, Martin D and Wain, Louise V and Walters, James T.R and Wong, Kim and Alachkar, Hana and Ambegaonkar, Gautum and Attwood, Antony and Austin, Steve and Bennett, David and Bibi, Shahnaz and Bleda, Marta and Browning, Michael and Clement, Emma and Doffinger, Rainer and Drewe, Elizabeth and Frary, Amy and Hackett, Scott and Hadinnapola, Charaka and Humbert, Marc and James, Roger and Krishnakumar, Deepa and Laffan, Michael A and Lawrie, Allan and Lentaigne, Claire and Maimaris, Jesmeen and Maw, Anna and Megy, Karyn and Moledina, Shahin and Morrell, Nicholas and Nejentsev, Sergey and Polwarth, Gary and Quinti, Isabella and Raymond, F. Lucy and Samarghitean, Crina and Sanchis-Juan, Alba and Southgate, Laura and Stauss, Hans and Thrasher, Adrian and Trembath, Richard and Williamson, Catherine and Yeatman, Nigel and Maher, Eamonn R and Deciphering Developmental Disorders Study and NIHR BioResource and UK10K Consortium and Deciphering Dev Disorders Study
American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calcium Channels, N-Type - genetics | Calcium - metabolism | Humans | Child, Preschool | Dyskinesias - pathology | Infant | Male | Loss of Heterozygosity | Synaptic Transmission | Pedigree | Adolescent | Epilepsy - genetics | Female | Mutation | Child | Epilepsy - pathology | Dyskinesias - genetics | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Index Medicus | Report
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2. Full Text Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
by Kempers, Marlies JE, MD and Kuiper, Roland P, PhD and Ockeloen, Charlotte W, MD and Chappuis, Pierre O, MD and Hutter, Pierre, PhD and Rahner, Nils, MD and Schackert, Hans K, Prof and Steinke, Verena, MD and Holinski-Feder, Elke, Prof and Morak, Monika, PhD and Kloor, Matthias, MD and Büttner, Reinhard, MD and Verwiel, Eugene TP, BSc and van Krieken, J Han, Prof and Nagtegaal, Iris D, MD and Goossens, Monique, BSc and van der Post, Rachel S, MD and Niessen, Renée C, PhD and Sijmons, Rolf H, MD and Kluijt, Irma, MD and Hogervorst, Frans BL, PhD and Leter, Edward M, MD and Gille, Johan JP, PhD and Aalfs, Cora M, MD and Redeker, Egbert JW, PhD and Hes, Frederik J, MD and Tops, Carli MJ, PhD and van Nesselrooij, Bernadette PM, MD and van Gijn, Marielle E, PhD and García, Encarna B Gómez, MD and Eccles, Diana M, Prof and Bunyan, David J, PhD and Syngal, Sapna, MD and Stoffel, Elena M, MD and Culver, Julie O, MSc and Palomares, Melanie R, MD and Graham, Tracy, MSc and Velsher, Lea, MD and Papp, Janos, PhD and Oláh, Edith, Prof and Chan, Tsun L, PhD and Leung, Suet Y, Prof and van Kessel, Ad Geurts, Prof and Kiemeney, Lambertus ALM, Prof and Hoogerbrugge, Nicoline, Prof and Ligtenberg, Marjolijn JL, Dr
The lancet oncology, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Hematology, Oncology and Palliative Medicine | Life Sciences & Biomedicine | Oncology | Science & Technology | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer | Index Medicus
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3. Full Text Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways
by Bakrania, Preeti and Efthymiou, Maria and Klein, Johannes C and Salt, Alison and Bunyan, David J and Wyatt, Alex and Ponting, Chris P and Martin, Angela and Williams, Steven and Lindley, Victoria and Gilmore, Joanne and Restori, Marie and Robson, Anthony G and Neveu, Magella M and Holder, Graham E and Collin, J Richard O and Robinson, David O and Farndon, Peter and Johansen-Berg, Heidi and Gerrelli, Dianne and Ragge, Nicola K
American journal of human genetics, ISSN 0002-9297, 2008, Volume 82, Issue 2, pp. 304 - 319
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Eye - metabolism | Bone Morphogenetic Protein 4 | Polydactyly - genetics | Humans | Electrophysiology | Hedgehog Proteins - metabolism | DNA Primers - genetics | Signal Transduction - genetics | Bone Morphogenetic Proteins - metabolism | Eye - embryology | In Situ Hybridization | Hedgehog Proteins - genetics | Chromosome Aberrations | Nervous System Malformations - genetics | Bone Morphogenetic Proteins - genetics | Chromosomes, Human, Pair 14 - genetics | Frameshift Mutation - genetics | Cohort Studies | Child development deviations | Bone morphogenetic proteins | Genetic aspects | Research | Structure | Developmental disabilities | Index Medicus
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4. 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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5. Full Text Psychological Vulnerability and Stress
: The Effects of Self-Affirmation on Sympathetic Nervous System Responses to Naturalistic Stressors
by Sherman, David K and Bunyan, Debra P and Creswell, J. David and Jaremka, Lisa M
Health psychology, ISSN 0278-6133, 9/2009, Volume 28, Issue 5, pp. 554 - 562
stress | catecholamines | academic stressors | stress interventions | self-affirmation | Psychology, Clinical | Psychology | Social Sciences | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Psychology. Psychoanalysis. Psychiatry | Personality. Affectivity | Stress | Psychology. Psychophysiology | Adaptation, Psychological - physiology | Self Efficacy | Humans | Anxiety - psychology | Epinephrine - urine | Norepinephrine - urine | Self-Assessment | Male | Sympathetic Nervous System - physiopathology | Stress, Psychological - psychology | Self Care - psychology | Young Adult | Anxiety - therapy | Arousal - physiology | Students - psychology | Adolescent | Internal-External Control | Writing | Female | Achievement | Anxiety - urine | Stress, Psychological - physiopathology | Physiological aspects | Influence | Nervous system | Research | Self-affirmation (Psychology) | Stress (Psychology) | Index Medicus
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6. Full Text Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain
by Cross, Esther and Duncan‐Flavell, Philippa J and Howarth, Rachel J and Hobbs, James I and Thomas, Nicholas Simon and Bunyan, David J
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2020, Volume 182, Issue 11, pp. 2508 - 2520
EP300 | CREBBP | DNA mutational analysis | Rubinstein–Taybi syndrome | Histones | Analysis | Pathogenicity | Histone acetyltransferase | Index Medicus
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7. Environmental justice
: issues, policies, and solutions
by Bryant, Bunyan I
1995, ISBN 1559634162, viii, 278
Social justice | Environmental policy | Sustainable development | Political aspects
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8. Full Text Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
by Gast, Christine and Marinaki, Anthony and Arenas-Hernandez, Monica and Campbell, Sara and Seaby, Eleanor G and Pengelly, Reuben J and Gale, Daniel P and Connor, Thomas M and Bunyan, David J and Hodaňová, Kateřina and Živná, Martina and Kmoch, Stanislav and Ennis, Sarah and Venkat-Raman, G
BMC nephrology, ISSN 1471-2369, 10/2018, Volume 19, Issue 1, pp. 301 - 301
UMOD | Prevalence | Autosomal dominant tubulointerstitial kidney disease | Genetic kidney disease | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | End-stage renal disease | Kidneys | Polycystic kidney | Gout | Genomes | Family medical history | Patients | Genetic screening | Proteins | Databases | Questionnaires | Population | Mutation | Kidney diseases | Saliva | Proteinuria
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9. Full Text Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
by Gast, Christine and Pengelly, Reuben J and Lyon, Matthew and Bunyan, David J and Seaby, Eleanor G and Graham, Nikki and Venkat-Raman, Gopalakrishnan and Ennis, Sarah
Nephrology, dialysis, transplantation, ISSN 0931-0509, 06/2016, Volume 31, Issue 6, pp. 961 - 970
FSGS | Alport disease | next generation sequencing | genetic kidney disease | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Collagen Type IV - metabolism | Glomerulosclerosis, Focal Segmental - genetics