खोज परिणाम - Sofia Douzgou

परिणाम को परिष्कृत करें
  1. 1
    Clinical variability of genetic isolates of Cohen syndrome

    Clinical variability of genetic isolates of Cohen syndrome द्वारा Sofia Douzgou, MB Petersen

    प्रकाशित 2011
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    Revisão
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  2. 2
    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... द्वारा Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou

    प्रकाशित 2017
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    Revisão
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  3. 3
    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach द्वारा Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth

    प्रकाशित 2016
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    Artigo
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  4. 4
    The Role of the European Society of Human Genetics in Delivering Genomic Education

    The Role of the European Society of Human Genetics in Delivering Genomic Education द्वारा Tobias, Edward S., Avram, Elena, Calapod, Patricia, Cordier, Christophe, den Dunnen, Johan T., Ding, Can, Dolzan, Vita, Houge, Sofia Douzgou, Lynch, Sally Ann, O’Byrne, James, Patsalis, Philippos, Prokopenko, Inga, Soares, Celia A., Tobias, Adam P., Newman, William G.

    प्रकाशित 2021
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  5. 5
    Clinical and genetic variability in children with partial albinism

    Clinical and genetic variability in children with partial albinism द्वारा Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    प्रकाशित 2019
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  6. 6
    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders द्वारा Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    प्रकाशित 2019
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    Artigo
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  7. 7
    A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement

    A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement द्वारा Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker

    प्रकाशित 2021
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    Revisão
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  8. 8
    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment

    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment द्वारा Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Levesque, Marie-Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon G. Sattler, Michael C. Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A. Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca O. Littlejohn, Sofia Douzgou, André Tremblay, Jacques L. Michaud

    प्रकाशित 2016
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    Artigo
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  9. 9
    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing द्वारा Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall, John Bassett, Eleanor Cartwright, Sanjeev S. Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew A. M. Morris, Elisabeth Jameson, Bernd Schwahn, John H. Walter, Sofia Douzgou, Helen Murphy, Christian J. Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A. Monavari, R. J. Martin, Anne Doolan, Senthil Senniappan, Simon Ramsden, Simon Jones, Siddharth Banka

    प्रकाशित 2017
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    Artigo
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  10. 10
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation द्वारा Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    प्रकाशित 2020
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  11. 11
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites द्वारा Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    प्रकाशित 2018
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  12. 12
    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency द्वारा David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie-Christine Nougues, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner

    प्रकाशित 2020
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  13. 13
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients द्वारा Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

    प्रकाशित 2011
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    Artigo
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  14. 14
    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 द्वारा 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

    प्रकाशित 2019
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  15. 15
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome द्वारा Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom

    प्रकाशित 2014
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    Artigo
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  16. 16
    FOXI3 pathogenic variants cause one form of craniofacial microsomia

    FOXI3 pathogenic variants cause one form of craniofacial microsomia द्वारा Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci‐Sparascio, Daniela Melis, Bruno Dallapiccola, M. Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong‐Biao Zhang, Stylianos E. Antonarakis

    प्रकाशित 2023
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  17. 17
    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature द्वारा Margot R.F. Reijnders, Robert Janowski, Mohsan Alvi, Jay Self, Ton J van Essen, Maaike Vreeburg, Rob P.W. Rouhl, Servi J.C. Stevens, Alexander P.A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric J. Smeets, Connie T. R. M. Stumpel, Levinus A. Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate Chandler, Sofia Douzgou, Nicola Cooper, Ene‐Choo Tan, Roger Foo, Angeline Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene S. Ruhoy, Karen S. Carvalho, James J. Dowling, Dorit Lev, Katalin Štěrbová, Petra Laššuthová, Jana Neupauerová, Jeff L. Waugh, Sotirios Keros, Jill Clayton‐Smith, Sarah Smithson, Han G. Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E. Clowes, Victoria Mok Siu, the DDD study, Paulo Selber, Richard J. Leventer, Christoffer Nellåker, Dierk Niessing, David Hunt, Diana Baralle

    प्रकाशित 2017
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    Revisão
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  18. 18
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement द्वारा Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    प्रकाशित 2024
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  19. 19
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder द्वारा Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    प्रकाशित 2018
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  20. 20
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis द्वारा Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    प्रकाशित 2019
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