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Now showing items 1 - 16 of 17

  • Sally Davies: Silk, noir, and diplomacy

    Davies, Sally  

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  • A roadmap for sustainably governing the global antimicrobial commons

    Van Katwyk, Susan Rogers   Balasegaram, Manica   Boriello, Pete   Farrar, Jeremy   Giubilini, Alberto   Harrison, Mark   Kieny, Marie-Paule   Kirchhelle, Claas   Liu, Joanne   Outterson, Kevin   Pate, Muhammad Ali   Poirier, Mathieu   Røttingen, John-Arne   Savulescu, Julian   Sugden, Rebecca   Thamlikitkul, Visanu   Weldon, Isaac   Davies, Sally   Hoffman, Steven J  

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  • Report released on antibiotic resistance

    Davies, Sally  

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  • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Gorman, Kathleen M.   Meyer, Esther   Grozeva, Detelina   Spinelli, Egidio   McTague, Amy   Sanchis-Juan, Alba   Carss, Keren J.   Bryant, Emily   Reich, Adi   Schneider, Amy L.   Pressler, Ronit M.   Simpson, Michael A.   Debelle, Geoff D.   Wassmer, Evangeline   Morton, Jenny   Sieciechowicz, Diana   Jan-Kamsteeg, Eric   Paciorkowski, Alex R.   King, Mary D.   Cross, J. Helen   Poduri, Annapurna   Mefford, Heather C.   Scheffer, Ingrid E.   Haack, Tobias B.   McCullagh, Gary   Millichap, John J.   Carvill, Gemma L.   Clayton-Smith, Jill   Maher, Eamonn R.   Raymond, F. Lucy   Kurian, Manju A.   McRae, Jeremy F.   Clayton, Stephen   Fitzgerald, Tomas W.   Kaplanis, Joanna   Prigmore, Elena   Rajan, Diana   Sifrim, Alejandro   Aitken, Stuart   Akawi, Nadia   Alvi, Mohsan   Ambridge, Kirsty   Barrett, Daniel M.   Bayzetinova, Tanya   Jones, Philip   Jones, Wendy D.   King, Daniel   Krishnappa, Netravathi   Mason, Laura E.   Singh, Tarjinder   Tivey, Adrian R.   Ahmed, Munaza   Anjum, Uruj   Archer, Hayley   Armstrong, Ruth   Awada, Jana   Balasubramanian, Meena   Banka, Siddharth   Baralle, Diana   Barnicoat, Angela   Batstone, Paul   Baty, David   Bennett, Chris   Berg, Jonathan   Bernhard, Birgitta   Bevan, A. Paul   Bitner-Glindzicz, Maria   Blair, Edward   Blyth, Moira   Bohanna, David   Bourdon, Louise   Bourn, David   Bradley, Lisa   Brady, Angela   Brent, Simon   Brewer, Carole   Brunstrom, Kate   Bunyan, David J.   Burn, John   Canham, Natalie   Castle, Bruce   Chandler, Kate   Chatzimichali, Elena   Cilliers, Deirdre   Clarke, Angus   Clasper, Susan   Clayton-Smith, Jill   Clowes, Virginia   Coates, Andrea   Cole, Trevor   Colgiu, Irina   Collins, Amanda   Collinson, Morag N.   Connell, Fiona   Cooper, Nicola   Cox, Helen   Cresswell, Lara   Cross, Gareth   Crow, Yanick   D’Alessandro, Mariella   Dabir, Tabib   Davidson, Rosemarie   Davies, Sally   de Vries, Dylan   Dean, John   Deshpande, Charu   Devlin, Gemma   Dixit, Abhijit   Dobbie, Angus   Donaldson, Alan   Donnai, Dian   Donnelly, Deirdre   Donnelly, Carina   Douglas, Angela   Douzgou, Sofia   Duncan, Alexis   Eas  

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  • Further delineation of the KAT6B molecular and phenotypic spectrum.

    Gannon, Tamsin   Perveen, Rahat   Schlecht, Helene   Ramsden, Simon   Anderson, Beverley   Kerr, Bronwyn   Day, Ruth   Banka, Siddharth   Suri, Mohnish   Berland, Siren   Gabbett, Michael   Ma, Alan   Lyonnet, Stan   Cormier-Daire, Valerie   Yilmaz, Rustem   Borck, Guntram   Wieczorek, Dagmar   Anderlid, Britt-Marie   Smithson, Sarah   Vogt, Julie   Moore-Barton, Heather   Simsek-Kiper, Pelin Ozlem   Maystadt, Isabelle   Destree, Anne   Bucher, Jessica   Angle, Brad   Mohammed, Shehla   Wakeling, Emma   Price, Sue   Singer, Amihood   Sznajer, Yves   Toutain, Annick   Haye, Damien   Newbury-Ecob, Ruth   Fradin, Melanie   McGaughran, Julie   Tuysuz, Beyhan   Tein, Mark   Bouman, Katelijne   Dabir, Tabib   Van den Ende, Jenneke   Luk, Ho Ming   Pilz, Daniela T   Eason, Jacqueline   Davies, Sally   Reardon, Willie   Garavelli, Livia   Zuffardi, Orsetta   Devriendt, Koen   Armstrong, Ruth   Johnson, Diana   Doco-Fenzy, Martine   Bijlsma, Emilia   Unger, Sheila   Veenstra-Knol, Hermine E   Kohlhase, Jurgen   Lo, Ivan F M   Smith, Janine   Clayton-Smith, Jill  

    KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed. =20
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  • Research to improve outcomes for children and young people with long-term conditions

    Lemer, Claire   Cheung, Ronny   Davies, Sally  

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  • WOMEN IN MEDICINE Improving women doctors' ability to achieve their full leadership potential

    Nath, Vijaya   Marx, Clare   Lees, Peter   Kasaraneni, Krishna   Davies, Sally  

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  • A patient-centred approach to research and development

    Davies, Sally  

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  • Hackney Downs: The School That Dared to Fightby Maureen O\"Connor; Elizabeth Hales; Jeffrey Davies; Sally Tomlinson

    Review by: Gerald Grace  

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  • WATER GAS SHIFT CATALYSTS

    A low temperature copper/zinc/aluminum water gas shift catalyst is described. The catalyst is formed from a precursor, wherein the precursor includes aluminum in the form of hydrotalcite and aluminum separate from the hydrotalcite. A method of making the catalyst and a process for using the catalyst are also described.
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  • WATER GAS SHIFT CATALYST

    A low temperature metal promoted copper/zinc/aluminum water gas shift catalyst is described. The catalyst is formed from a precursor, wherein the precursor includes aluminum in the form of hydrotalcite and aluminum separate from the hydrotalcite. A method of making the catalyst and a process for using the catalyst are also described.
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  • A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2

    Lo Nigro, Cristiana   Cusano, Roberto   Scaranari, Monica   Cinti, Roberta   Forabosco, Paola   Morra, Vincenzo Brescia   De Michele, Giuseppe   Santoro, Lucio   Davies, Sally   Hurst, Jane   Devoto, Marcella   Ravazzolo, Roberto   Seri, Marco  

    Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disorder characterised by progressive spasticity of the lower limbs. Beside 'pure' forms of HSP, 'complicated' forms are reported, where spasticity occurs associated with additional symptoms. We recently described an Italian family with a complicated dominant form of HSP (SPG9) and we mapped the gene responsible to 10q23.3-q24.2, in a 12 cM interval between markers D10S564 and D10S603. The phenotypic manifestations in our family are reminiscent of those already described in a smaller British pedigree. We typed individuals from this British family using markers located in the SPG9 critical interval and haplotype reconstruction showed the disorder co-segregating with SPG9. To characterise the SPG9 region better, we constructed a contig of 22 YACs, assigned it to 18 polymorphic markers and positioned 54 ESTs. Furthermore, we searched for ESTs containing a trinucleotide repeat sequence, since anticipation of symptoms was reported in both families. Finally, analysis of a muscle biopsy specimen from one patient was normal, suggesting that, contrary to SPG7, mitochondrial disturbance could not be a primary feature of SPG9.
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  • Commentary

    Davies, Sally  

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  • Effects of Continuous Passive Movement and Plaster of Paris after Internal Fixation of Ankle Fractures

    Davies, Sally  

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  • The Spring Lecture: “Antimicrobial resistance: global threat to health and economy” by Professor Dame Sally C. Davies ‐ Abstract of the London Discussion

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  • Mapping and Measuring the Information Economy by Ian Miles and contributors Tim Brady, Andy Davies, Leslie Haddon, Nick Jagger, Mark Matthews, Howard Rush and Sally Wyatt (Library and Information Research Report 77, British Library Board, 1990), pp. ix + 275, £ 25.00, ISBN 0-7123-3212-x

    Lamberton, D. McL.  

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