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1. Full Text Centrifugal forces: reading Russia's regional identities and initiatives, University of Virginia, Charlottesville, Virginia, March 26-28, 2015
by Clowes, Edith W
Russian journal of communication, ISSN 1940-9419, 01/2016, Volume 8, Issue 1, pp. 98 - 99
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2. Full Text SOUTH AFRICAN UNDERSTANDINGS OF CONTINUITY AND CHANGE - Darkroom: Photography and New Media in South Africa Since 1950. Edited by Tosha Grantham. Charlottesville, VA and London: Virginia Museum of Fine Arts/Richmond: University of Virginia Press, 2009. Pp. vi+150. £31.50/$35, paperback (ISBN 978-0-917024-89-6)
by CLOWES, LINDSAY
Journal of African history, ISSN 0021-8537, 07/2010, Volume 51, Issue 2, pp. 269 - 270
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3. Full Text Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias
by Timmerman, Vincent and Clowes, Virginia E and Reid, Evan
Experimental neurology, ISSN 0014-4886, 08/2013, Volume 246, pp. 14 - 25
Hereditary spastic paraplegia | Axon degeneration | Hereditary neuropathy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spastic Paraplegia, Hereditary - genetics | Animals | Nerve Fibers, Myelinated - pathology | Humans | Charcot-Marie-Tooth Disease - epidemiology | Spastic Paraplegia, Hereditary - pathology | Spastic Paraplegia, Hereditary - epidemiology | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Charcot-Marie-Tooth Disease - genetics | Heat shock proteins | Index Medicus
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4. Full Text SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
by Parry, David A and Logan, Clare V and Stegmann, Alexander P.A and Abdelhamed, Zakia A and Calder, Alistair and Khan, Shabana and Bonthron, David T and Clowes, Virginia and Sheridan, Eamonn and Ghali, Neeti and Chudley, Albert E and Dobbie, Angus and Stumpel, Constance T.R.M and Johnson, Colin A
American journal of human genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1135 - 1142
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mandible - abnormalities | Genetic Association Studies | Humans | Male | Syndrome | Goosecoid Protein - genetics | Young Adult | Dwarfism - genetics | Ear Canal - abnormalities | Homozygote | Phenotype | Animals | DNA Mutational Analysis | Pedigree | Abnormalities, Multiple - diagnosis | Adult | Female | Mice | Mutation | Bone and Bones - abnormalities | Child | Abnormalities, Multiple - genetics | Gene mutations | Abnormalities | Child development deviations | Physiological aspects | Genetic research | Bones | Genetic aspects | Research | Developmental disabilities | Musculoskeletal diseases | Proteins | Genetic disorders | Index Medicus | Report
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5. Full Text Pathogenicity and selective constraint on variation near splice sites
by Lord, Jenny and Lord, Jenny and Gallone, Giuseppe and Gallone, Giuseppe and Short, Patrick J and Short, Patrick J and McRae, Jeremy F and McRae, Jeremy F and Ironfield, Holly and Ironfield, Holly and Wynn, Elizabeth H and Wynn, Elizabeth H and Gerety, Sebastian S and Gerety, Sebastian S and He, Liu and He, Liu and Kerr, Bronwyn and Kerr, Bronwyn and Johnson, Diana S and Johnson, Diana S and McCann, Emma and Kinning, Esther and Flinter, Frances and Flinter, Frances and Temple, I. Karen and Temple, I Karen and Clayton-Smith, Jill and Clayton-Smith, Jill and McEntagart, Meriel and McEntagart, Meriel and Lynch, Sally Ann and Joss, Shelagh and Douzgou, Sofia and Dabir, Tabib and Dabir, Tabib and Clowes, Virginia and Clowes, Virginia and McConnell, Vivienne P.M and McConnell, Vivienne P M and Lam, Wayne and Lam, Wayne and Wright, Caroline F and FitzPatrick, David R and FitzPatrick, David R and Firth, Helen V and Firth, Helen V and Barrett, Jeffrey C and Barrett, Jeffrey C and Hurles, Matthew E and Hurles, Matthew E and Deciphering Developmental Disord and Deciphering Developmental Disorders Study and on behalf of the Deciphering Developmental Disorders study
Genome research, ISSN 1088-9051, 02/2019, Volume 29, Issue 2, pp. 159 - 170
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Pathogenicity | mRNA | Mutation | Splicing | Index Medicus | Research
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6. Full Text Overlapping molecular pathological themes link Charcot―Marie―Tooth neuropathies and hereditary spastic paraplegias
: Axonal degeneration
by TIMMERMAN, Vincent and CLOWES, Virginia E and REID, Evan
Experimental neurology, ISSN 0014-4886, 2013, Volume 246, pp. 14 - 25
Neurology | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes)
Journal Article
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7. Full Text PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
by Reijnders, Margot R F and Janowski, Robert and Alvi, Mohsan and Self, Jay E and van Essen, Ton J and Vreeburg, Maaike and Rouhl, Rob P W and Stevens, Servi J C and Stegmann, Alexander P A and Schieving, Jolanda and Pfundt, Rolph and van Dijk, Katinke and Smeets, Eric and Stumpel, Connie T R M and Bok, Levinus A and Cobben, Jan Maarten and Engelen, Marc and Mansour, Sahar and Whiteford, Margo and Chandler, Kate E and Douzgou, Sofia and Cooper, Nicola S and Tan, Ene-Choo and Foo, Roger and Lai, Angeline H M and Rankin, Julia and Green, Andrew and Lönnqvist, Tuula and Isohanni, Pirjo and Williams, Shelley and Ruhoy, Ilene and Carvalho, Karen S and Dowling, James J and Lev, Dorit L and Sterbova, Katalin and Lassuthova, Petra and Neupauerová, Jana and Waugh, Jeff L and Keros, Sotirios and Clayton-Smith, Jill and Smithson, Sarah F and Brunner, Han G and van Hoeckel, Ceciel and Anderson, Mel and Clowes, Virginia E and Siu, Victoria Mok and DDD study, The and Selber, Paulo and Leventer, Richard J and Nellaker, Christoffer and Niessing, Dierk and Hunt, David and Baralle, Diana and DDD Study
Journal of medical genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
epilepsy and seizures | neonatal problems | PURA syndrome | hypotonia | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Muscle Hypotonia - genetics | Transcription Factors - chemistry | Genetic Association Studies | Face - abnormalities | Humans | Drosophila Proteins - chemistry | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Eye Abnormalities - genetics | DNA-Binding Proteins - chemistry | Syndrome | Intellectual Disability - genetics | Muscle Hypotonia - etiology | Pregnancy | Female | Structural Homology, Protein | Drosophila Proteins - genetics | Mutation | Infant, Newborn | Genotype | Glycosylation | Genetic disorders | Research | Analysis | Neonates | Phenotypes | Computational neuroscience | Epilepsy | Neurodevelopmental disorders | Feeding | Proteins | Genotype & phenotype | Convulsions & seizures | Startle response | Questionnaires | Photographs | Genotypes | Hypothermia | Index Medicus | 1506
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8. Full Text Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5
by Edwards, Thomas L and Clowes, Virginia E and Tsang, Hilda T.H and Connell, James W and Sanderson, Christopher M and Luzio, J. Paul and Reid, Evan
Biochemical journal, ISSN 0264-6021, 10/2009, Volume 423, Issue 1, pp. 31 - 39
Mono-ubiquitination | Microtubule interacting and trafficking domain | Spartin | Hereditary spastic paraplegia (HSP) | Epidermal growth factor receptor (EGFR) | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Humans | Ubiquitin-Protein Ligases - metabolism | Rats | PC12 Cells | Endosomes - metabolism | Ubiquitination | Animals | Proteins - metabolism | Protein Binding | Liposomes - metabolism | Mice | HeLa Cells | Tumor Cells, Cultured | Lipid Metabolism - physiology | Repressor Proteins - metabolism | Index Medicus | α-spartin, polyclonal antibody against spartin | Vps4, vacuolar protein sorting 4 | microtubule interacting and trafficking domain | GFP, green fluorescent protein | EGFR, EGF receptor | mono-ubiquitination | epidermal growth factor receptor (EGFR) | EGF, epidermal growth factor | LAMP1, lysosome-associated membrane protein 1 | hereditary spastic paraplegia (HSP) | HA, haemagglutinin | siRNA, small interfering RNA | spartinAAAA, mutation of spartin's PPXY motif to AAAA | HSP, hereditary spastic paraplegia | DMEM, Dulbecco's modified Eagle's medium | HECT, homologous with the E6AP C-terminus | WWP, WW domain-containing E3 ubiquitin protein ligase | AIP, atrophin-interacting protein | Nedd4.2, neural-precursor-cell-expressed developmentally down-regulated | spartin | GST, glutathione transferase
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9. Full Text Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
by Durkin, Anna and Albaba, Shadi and Fry, Andrew E and Morton, Jenny E and Douglas, Andrew and Beleza, Ana and Williams, Denise and Volker‐Touw, Catharina M.L and Lynch, Sally A and Canham, Natalie and Clowes, Virginia and Straub, Volker and Lachlan, Katherine and Gibbon, Frances and El Gamal, Mayy and Varghese, Vinod and Parker, Michael J and Newbury‐Ecob, Ruth and Turnpenny, Peter D and Gardham, Alice and Ghali, Neeti and Balasubramanian, Meena
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2020, Volume 182, Issue 7, pp. 1637 - 1654
HNRNPU | seizures | exome sequencing | DDD study | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Literature reviews | Genetic variance | Phenotypes | Microencephaly | Intellectual disabilities | Children | Neurodevelopmental disorders | Genetic screening | Seizures | Haploinsufficiency | Index Medicus
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10. Full Text Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
by Bancroft, Elizabeth K and Page, Elizabeth C and Castro, Elena and Lilja, Hans and Vickers, Andrew and Sjoberg, Daniel and Assel, Melissa and Foster, Christopher S and Drew, Kate and Mæhle, Lovise and Axcrona, Karol and Evans, D. Gareth and Bulman, Barbara and Eccles, Diana and van Asperen, Christi and Vasen, Hans and Kiemeney, Lambertus A and Ringelberg, Janneke and Cybulski, Cezary and Wokolorczyk, Dominika and Selkirk, Christina and Hulick, Peter J and Bojesen, Anders and Skytte, Anne-Bine and Lam, Jimmy and Taylor, Louise and Oldenburg, Rogier and Verhaegh, Gerald and van Zelst-Stams, Wendy A and Oosterwijk, Jan C and Blanco, Ignacio and Salinas, Monica and Cook, Jackie and Rosario, Derek J and Buys, Saundra and Conner, Tom and Ausems, Margreet G and Ong, Kai-ren and Hoffman, Jonathan and Domchek, Susan and Teixeira, Manuel R and Maia, Sofia and Foulkes, William D and Taherian, Nassim and Ruijs, Marielle and den Enden, Apollonia T. Helderman-van and Izatt, Louise and Davidson, Rosemarie and Adank, Muriel A and Walker, Lisa and Schmutzler, Rita and Tucker, Kathy and Kirk, Judy and Hodgson, Shirley and Harris, Marion and Douglas, Fiona and Lindeman, Geoffrey J and Zgajnar, Janez and Tischkowitz, Marc and Susman, Rachel and Ramón y Cajal, Teresa and Patcher, Nicholas and Spigelman, Allan and Liljegren, Annelie and Side, Lucy and Brewer, Carole and Donaldson, Alan and Stefansdottir, Vigdis and Chen-Shtoyerman, Rakefet and Amor, David J and Barwell, Julian and Giri, Veda N and Murthy, Vedang and Nicolai, Nicola and Teo, Soo-Hwang and Greenhalgh, Lynn and Strom, Sara and Henderson, Alex and McGrath, John and Gallagher, David and Aaronson, Neil and Ardern-Jones, Audrey and Bangma, Chris and Dearnaley, David and Eyfjord, Jorunn and Rothwell, Jeanette and Falconer, Alison and Gronberg, Henrik and Johannsson, Oskar and Kote-Jarai, Zsofia and Axcrona, Ulrika and Melia, Jane and McKinley, Joanne and Mitra, Anita V and Moynihan, Clare and Rennert, Gad and Suri, Mohnish and Wilson, Penny and Killick, Emma and Moss, Sue and The IMPACT Collaborators and IMPACT Collaborators
European urology, ISSN 0302-2838, 2014, Volume 66, Issue 3, pp. 489 - 499
Urology | Targeted screening | BRCA1 | BRCA2 | Prostate-specific antigen | Prostate cancer | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Tumors of the urinary system | Urinary tract. Prostate gland | Gynecology. Andrology. Obstetrics | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Male genital diseases | Tumors | Predictive Value of Tests | Prostatic Neoplasms - pathology | Genetic Predisposition to Disease - genetics | Early Detection of Cancer | Humans | Middle Aged | Genotype | Male | Prostate-Specific Antigen - blood | Patient Selection | Prostate - pathology | Prostatic Neoplasms - genetics | Biopsy | Genes, BRCA2 | Prostatic Neoplasms - blood | Adult | Aged | Genes, BRCA1 | Mutation | Genetic aspects | Diagnosis | Gene mutations | Cancer | Index Medicus | Platinum Priority – Prostate Cancer | Urologi och njurmedicin | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Urology and Nephrology
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