Resultados da busca - Shehla Mohammed

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  1. 1
    Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

    Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? por Charis Eng, Victoria Murday, S. Seal, Shehla Mohammed, S V Hodgson, M.A. Chaudary, I S Fentiman, B. A. J. Ponder, Rosalind A. Eeles

    Publicado em 1994
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  2. 2
    Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

    Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) por Sahar Elouej, Ana Beleza‐Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean-Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre‐Giovannoli

    Publicado em 2017
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  3. 3
    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability

    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability por Michael Parker, Alan Fryer, Deborah Shears, Katherine Lachlan, Shane McKee, Alex Magee, Shehla Mohammed, Pradeep Vasudevan, Soo‐Mi Park, Valérie Benoît, Damien Lederer, Isabelle Maystadt, DDD Study, David Fitzpatrick

    Publicado em 2015
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  4. 4
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data por King, Daniel A., Sifrim, Alejandro, Fitzgerald, Tomas W., Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G., Shehla, Mohammed, Tomkins, Susan E., Vasudevan, Pradeep C., Hurles, Matthew E.

    Publicado em 2017
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  5. 5
    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita por Hemanth Tummala, Amanda J. Walne, Laura C. Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed, Vincent Plagnol, Thomas J. Vulliamy, Inderjeet Dokal

    Publicado em 2015
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  6. 6
    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome por Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan E. Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Böckenhauer, Lukas Foggensteiner, Philip L. Beales

    Publicado em 2016
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  7. 7
    The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

    The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population por Safa Mujahid, Katharine F. Hunt, Yee Seun Cheah, Elizabeth Forsythe, Jonathan Hazlehurst, Kathryn P. Sparks, Shehla Mohammed, Jeremy Tomlinson, Stephanie A. Amiel, Paul Carroll, Phillip Beales, M. S. B. Huda, Barbara McGowan

    Publicado em 2018
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  8. 8
    Congenital leptin deficiency is associated with severe early-onset obesity in humans

    Congenital leptin deficiency is associated with severe early-onset obesity in humans por Carl Montague, I. Sadaf Farooqi, Jonathan P. Whitehead, Maria A. Soos, Harald Rau, Nicholas J. Wareham, Ciaran Sewter, Janet E. Digby, Shehla Mohammed, Jane A. Hurst, Christopher H. Cheetham, Alison R. Earley, Anthony Barnett, Johannes B. Prins, Stephen O’Rahilly

    Publicado em 1997
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  9. 9
    An <i>RYR1</i> mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

    An <i>RYR1</i> mutation associated with malignant hyperthermia is also associated with bleeding abnormalities por Rubén López, Susan Byrne, Mirko Vukcevic, Marijana Sekulic‐Jablanovic, Lifen Xu, Marijke Brink, Jay Alamelu, Nicol C. Voermans, M.M.J. Snoeck, Emma Clement, Francesco Muntoni, Haiyan Zhou, Aleksandar Radunović, Shehla Mohammed, Elizabeth Wraige, Francesco Zorzato, Susan Treves, Heinz Jungbluth

    Publicado em 2016
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  10. 10
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes por Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi, Wyatt W. Yue, Perciliz L. Tan, Katie Clarkson, Jill Clayton‐Smith, Ken Corning, Julie R. Jones, Wayne Lam, Grazia M.S. Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald D. Cohn, David Chitayat, Tom H. Millard, Nicholas Katsanis, Han G. Brunner, Siddharth Banka

    Publicado em 2017
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  11. 11
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome por Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    Publicado em 2011
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  12. 12
    Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

    Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect por Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M. S. Morley, Rongxuan Lim, Sally A. Turner, Tanya Henshaw, Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Ann Joan Harrop, D. McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardò, Miria Stefanini, Antony R. Young, Robert Sarkany, Alan R. Lehmann

    Publicado em 2016
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  13. 13
    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation por Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn, Elaine H. Zackai, Peter M. Bingham, Kevin Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean‐Pierre Lin, David R. Lynch, Shehla Mohammed, R. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

    Publicado em 2006
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  14. 14
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis por Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan, Ioanna Peraki, Aimée L Fenwick, Vikram Sharma, Maryline Allégra, Ανδρέας Ζαραγκούλιας, Elham Sadighi Akha, Samantha J.L. Knight, Helen Lord, Tracy Lester, Louise Izatt, Anne Katrin Lampe, Shehla Mohammed, Fiona J. Stewart, Alain Verloès, Louise C. Wilson, Chris Healy, Paul T. Sharpe, Peter Hammond, Jim R. Hughes, Stephen Taylor, David Johnson, Steven A. Wall, George Mavrothalassitis, Andrew O.M. Wilkie

    Publicado em 2013
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  15. 15
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 por Hemant Bengani, Mark T. Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, Malin Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton‐Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker, David Fitzpatrick

    Publicado em 2017
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  16. 16
    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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  17. 17
    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions por Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha Roberson, Mark Hermann, Emily A. Quinn, James B. Maas, Robert H. Edwards, Tetsuo Ashizawa, Betül Baykan, Kailash P. Bhatia, Susan Bressman, Michiko Kimura Bruno, E. R. Brunt, Roberto Caraballo, Bernard Échenne, Natalio Fejerman, Steven J. Frucht, Christina A. Gurnett, Édouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing‐Wen Soong, Kathryn J. Swoboda, S. Craig Tucker, Nicholas Wood, Michael G. Hanna, A. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

    Publicado em 2012
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  18. 18
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum por Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    Publicado em 2011
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  19. 19
    Further delineation of the KAT6B molecular and phenotypic spectrum

    Further delineation of the KAT6B molecular and phenotypic spectrum por Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael T. Gabbett, Alan Ma, Stanislas Lyonnet, Valérie Cormier‐Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt‐Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Özlem Şimşek‐Kiper, Isabelle Maystadt, Anne Destrèe, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury‐Ecob, Mélanie Fradin, Julie McGaughran, Beyhan Tüysüz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke van den Ende, Ho‐Ming Luk, Daniela T. Pilz, Jacqueline Eason, Sally Davies, William Reardon, Livia Garavelli, Orsetta Zuffardi, Koenraad Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco‐Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E. Veenstra‐Knol, Jürgen Kohlhase, Ivan F. M. Lo, Janine Smith, Jill Clayton‐Smith

    Publicado em 2014
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  20. 20
    <i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

    <i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy por Susan Byrne, Max Janse, Jean-Marie U-King-Im, Ata Siddiqui, Hart G.W. Lidov, István Bódi, Luke J. Smith, R. Mein, Thomas Cullup, Carlo Dionisi‐Vici, Lihadh Al‐Gazali, Mohammed Al‐Owain, Zandrè Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni‐Baruch, Hanna Mandel, Efrat Dagan, Annick Raas‐Rothschild, Hila Barash, Francis Filloux, Donnell J. Creel, Michael A. Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi‐Fakhari, Georg F. Hoffmann, David K. Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenço, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline A. Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth

    Publicado em 2016
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