Výsledky vyhledávání - Hackett, Anna

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  1. 1
    Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

    Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? Autor Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef

    Vydáno 2012
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  2. 2
    The Third Wave: Comparing Seasonal Trends in COVID-19 Patient Data at a Large Hospital System in New York City

    The Third Wave: Comparing Seasonal Trends in COVID-19 Patient Data at a Large Hospital System in New York City Autor Tandon, Pranai, Leibner, Evan S., Hackett, Anna, Maguire, Katherine, Mashriqi, Nazia, Kohli-Seth, Roopa

    Vydáno 2022
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  3. 3
    14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

    14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype Autor Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

    Vydáno 2013
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  4. 4
    A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

    A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability Autor Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef

    Vydáno 2016
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  5. 5
    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation Autor Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

    Vydáno 2010
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  6. 6
    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation Autor Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

    Vydáno 2012
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  7. 7
    Novel Multidisciplinary Vascular Access Team Helps to Improve ICU Workflow Amidst Covid-19 Pandemic

    Novel Multidisciplinary Vascular Access Team Helps to Improve ICU Workflow Amidst Covid-19 Pandemic Autor Hackett, Anna K., Wells, Celia M., Gupta, Rohit, Zhang, Ziya, Brito, Amy, Kirton, Natalie B., Chan, Christy C., Brown, Kester, Wong, Caitlin, Leonardi, Kayla M., Shittu, Atinuke, Lay, Cappi, Kohli-Seth, Roopa

    Vydáno 2022
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  8. 8
    A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

    A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation Autor Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Field, Michael, Orlowski, John

    Vydáno 2019
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  9. 9
    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa... Autor Dudding-Byth, Tracy, Baxter, Anne, Holliday, Elizabeth G., Hackett, Anna, O’Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C.

    Vydáno 2017
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  10. 10
    Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

    Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders Autor Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao

    Vydáno 2019
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  11. 11
    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability Autor Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

    Vydáno 2014
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  12. 12
    A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

    A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C Autor Jensen, Lars R, Bartenschlager, Heinz, Rujirabanjerd, Sinitdhorn, Tzschach, Andreas, Nümann, Astrid, Janecke, Andreas R, Spörle, Ralf, Stricker, Sigmar, Raynaud, Martine, Nelson, John, Hackett, Anna, Fryns, Jean-Pierre, Chelly, Jamel, de Brouwer, Arjan PM, Hamel, Ben, Gecz, Jozef, Ropers, Hans-Hilger, Kuss, Andreas W

    Vydáno 2010
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  13. 13
    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability Autor Huang, Lingli, Jolly, Lachlan A., Willis-Owen, Saffron, Gardner, Alison, Kumar, Raman, Douglas, Evelyn, Shoubridge, Cheryl, Wieczorek, Dagmar, Tzschach, Andreas, Cohen, Monika, Hackett, Anna, Field, Michael, Froyen, Guy, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Kalscheuer, Vera M., Corbett, Mark A., Gecz, Jozef

    Vydáno 2012
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  14. 14
    Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

    Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis Autor Ramos-Brossier, Mariana, Montani, Caterina, Lebrun, Nicolas, Gritti, Laura, Martin, Christelle, Seminatore-Nole, Christine, Toussaint, Aurelie, Moreno, Sarah, Poirier, Karine, Dorseuil, Olivier, Chelly, Jamel, Hackett, Anna, Gecz, Jozef, Bieth, Eric, Faudet, Anne, Heron, Delphine, Kooy, Frank, Loeys, Bart, Humeau, Yann, Sala, Carlo, Billuart, Pierre

    Vydáno 2015
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  15. 15
    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Autor Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John RW, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E

    Vydáno 2010
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  16. 16
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability Autor Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

    Vydáno 2015
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  17. 17
    Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Autor Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John R W, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E

    Vydáno 2010
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  18. 18
    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability Autor Shoubridge, Cheryl, Tarpey, Patrick S, Abidi, Fatima, Ramsden, Sarah L, Rujirabanjerd, Sinitdhorn, Murphy, Jessica A, Boyle, Jackie, Shaw, Marie, Gardner, Alison, Proos, Anne, Puusepp, Helen, Raymond, F Lucy, Schwartz, Charles E, Stevenson, Roger E, Turner, Gill, Field, Michael, Walikonis, Randall S, Harvey, Robert J, Hackett, Anna, Futreal, P Andrew, Stratton, Michael R, Gécz, Jozef

    Vydáno 2010
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  19. 19
    Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

    Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 Autor Jensen, Lars R, Chen, Wei, Moser, Bettina, Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M, Meloni, Ilaria, Raynaud, Martine, van Esch, Hilde, Chelly, Jamel, de Brouwer, Arjan P M, Hackett, Anna, van der Haar, Sigrun, Henn, Wolfram, Gecz, Jozef, Riess, Olaf, Bonin, Michael, Reinhardt, Richard, Ropers, Hans-Hilger, Kuss, Andreas W

    Vydáno 2011
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  20. 20
    Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

    Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability Autor Whibley, Annabel C., Plagnol, Vincent, Tarpey, Patrick S., Abidi, Fatima, Fullston, Tod, Choma, Maja K., Boucher, Catherine A., Shepherd, Lorraine, Willatt, Lionel, Parkin, Georgina, Smith, Raffaella, Futreal, P. Andrew, Shaw, Marie, Boyle, Jackie, Licata, Andrea, Skinner, Cindy, Stevenson, Roger E., Turner, Gillian, Field, Michael, Hackett, Anna, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Raymond, F. Lucy

    Vydáno 2010
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