Resultados da pesquisa - Dragana Josifova

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  1. 1
    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Por Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean‐Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana Josifova

    Publicado em 2010
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  2. 2
    White matter abnormalities and dystonic motor disorder associated with mutations in the <i>SLC16A2</i> gene

    White matter abnormalities and dystonic motor disorder associated with mutations in the <i>SLC16A2</i> gene Por Artemis Gika, Ata Siddiqui, Anthony Hulse, SELVAKUMARI EDWARD, Penny Fallon, Meriel E. McEntagart, Wajanat Jan, Dragana Josifova, TALLY LERMAN‐SAGIE, James Drummond, Edward D. Thompson, Samuel Refetoff, Carsten G. Bönnemann, Heinz Jungbluth

    Publicado em 2009
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  3. 3
    Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi

    Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi Por Satyamaanasa Polubothu, Nancy McGuire, Lara Al-Olabi, William Baird, Neil Bulstrode, Jane Chalker, Dragana Josifova, Debra Lomas, Justine O’Hara, Juling Ong, Dyanne Rampling, Paulina Stadnik, Anna Thomas, E. Wedgeworth, Neil J. Sebire, Veronica A. Kinsler

    Publicado em 2019
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  4. 4
    Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C

    Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C Por Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg, Kevin Colclough, Nguyễn Thùy Dương, Jane Fenton‐May, Andrew T. Hattersley, Judith A. Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWilliam, Katharine R. Owen, Mark S. Walker, Manfred Wehnert, Sian Ellard

    Publicado em 2008
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  5. 5
    A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

    A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition Por Francesc R. García-Gonzalo, Kevin C. Corbit, Ma Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D Seol, Jon F. Robinson, Christopher Bennett, Dragana Josifova, José Manuel García‐Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter

    Publicado em 2011
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  6. 6
    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity Por Dragana Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju Mehta, Magdaléna Harakaľová, Karen Duran, Sanne M. C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst

    Publicado em 2016
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  7. 7
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype Por Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    Publicado em 2009
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  8. 8
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease Por Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert, K Wood, Filip Van den Broeck, Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Carlo Rivolta, Raymond T. O’Keefe, Jamie M. Ellingford, Andrew R. Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P. Leroy, Elfride De Baere, Frauke Coppieters

    Publicado em 2024
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  9. 9
    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Por Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery

    Publicado em 2021
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  10. 10
    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction Por Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen, Benjamin Livesey, Isabel M. Hanson, Gill Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael W. Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen‐Kaesbach, Elise Héon, Jane A. Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Françoise Meire, Anthony T. Moore, Michael Parker, Charlotte Reiff, Jay Self, Edward S. Tobias, Joanne Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David Fitzpatrick

    Publicado em 2019
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  11. 11
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy Por Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

    Publicado em 2012
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  12. 12
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients Por Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    Publicado em 2019
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  13. 13
    Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

    Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy Por Laura Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xénia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert M. Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Naeem Khan, Gabriel Ángel Martos‐Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga‐Jauregui, Karlla W. Brigatti, Alexander P.A. Stegmann, Masato T. Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T. R. M. Stumpel, A. Malcolm R. Taylor, Andrew P. Jackson, Anja‐Katrin Bielinsky, Niels Mailand, Cédric Le Caignec, Erica E. Davis, Grant S. Stewart

    Publicado em 2022
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  14. 14
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients Por Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Publicado em 2010
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  15. 15
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism Por Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Publicado em 2014
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  16. 16
    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Por Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    Publicado em 2013
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  17. 17
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Por Keren Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Mégy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher J. Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner‐Glindzicz, Richard H. Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert Henderson, Jane A. Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, F. Lucy Raymond, Timothy J. Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton‐Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew A. Brown, Michael J. Browning, Christine Bryson, Siobhán O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre, Colin Church, Emma Clement, Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty, Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Döffinger, Natalie Dormand, Elizabeth Drewe

    Publicado em 2016
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  18. 18
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Por Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    Publicado em 2025
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  19. 19
    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data Por James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Manzur, Adrian J. Thrasher, Alan Greenhalgh, Alasdair Parker, Alba Sanchis-Juan, Alex Richter, Alice Gardham, Allan Lawrie, Aman Sohal, Amanda Creaser-Myers, Amy Frary, Andreas Greinacher, Andreas C. Themistocleous, Andrew J. Peacock, Andrew Marshall, Andrew Mumford, Andrew J. Rice, Andrew Webster, Angie Brady, Ania Koziell, Ania Manson, Anita Chandra, Anke Hensiek, Anna Huis in’t Veld, Anna Maw, Anne M. Kelly, Anthony T. Moore, Anton Vonk Noordegraaf, Antony Attwood, Archana Herwadkar, Hossein Ardeschir Ghofrani, Arjan C. Houweling, Barbara Girerd, Bruce Furie, Carmen Treacy, Carolyn M. Millar, Carrock Sewell, Catherine Roughley, Catherine Titterton, Catherine Williamson, Charaka Hadinnapola, Charu Deshpande, Cheng‐Hock Toh, Chiara Bacchelli, Christine Patch, Chris Van Geet, Christian Babbs, Christine Bryson, Christopher J. Penkett, Christopher J. Rhodes, C. Ian F. Watt, Claire Bethune, Claire Booth, Claire Lentaigne, Coleen McJannet, Colin Church, Courtney E. French, Crina Samarghitean, Csaba Halmagyi, Daniel P. Gale, Daniel Greene, Daniel P. Hart, David Allsup, David Bennett, David Edgar, David G. Kiely, David Gosal, David J. Perry, David Keeling, David Montani, Debbie Shipley, Deborah Whitehorn, Debra Fletcher, Deepa Krishnakumar, Detelina Grozeva, Dinakantha Kumararatne, Dorothy Thompson, Dragana Josifova, Eamonn R. Maher, Edwin Wong, Elaine Murphy, Eleanor Dewhurst, Eleni Louka, Elisabeth Rosser, Elizabeth Chalmers, Elizabeth Colby, Elizabeth Drewe, Elizabeth McDermott, Ellen Thomas, Emily Staples, Emma Clement, Emma Matthews, Emma Wakeling, Éric Oksenhendler

    Publicado em 2018
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