Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Bonthron, David T, Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Biele ska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P
Published in Nature genetics (01.06.2008)
Published in Nature genetics (01.06.2008)
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Published in Journal of medical genetics (01.12.2015)
Published in Journal of medical genetics (01.12.2015)
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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates
Mercer, Ben N, Begg, Gordon A, Page, Stephen P, Bennett, Christopher P, Tayebjee, Muzahir H, Mahida, Saagar
Published in Frontiers in physiology (30.06.2016)
Published in Frontiers in physiology (30.06.2016)
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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A, Attié-Bitach, Tania
Published in Human mutation (01.05.2007)
Published in Human mutation (01.05.2007)
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Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss
Yoong, Soo Y, Mavrogiannis, Lampros A, Wright, John, Fairley, Lesley, Bennett, Christopher P, Charlton, Ruth S, Spencer, Nick
Published in Archives of disease in childhood (01.09.2011)
Published in Archives of disease in childhood (01.09.2011)
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A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
MORGAN, Neil V, GISSEN, Paul, TREMBATH, Richard C, MAHER, Eamonn R, JOHNSON, Colin A, SAGHIRA MALIK SHARIF, BAUMBER, Laura, SUTHERLAND, Joan, KELLY, Deirdre A, AMINU, Kingi, BENNETT, Christopher P, WOODS, C. Geoffrey, MUELLER, Robert F
Published in Human genetics (01.10.2002)
Published in Human genetics (01.10.2002)
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Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
WHATLEY, Sharon D, ROBERTS, Andrew G, LLEWELLYN, David H, BENNETT, Christopher P, GARRETT, Christine, ELDER, George H
Published in Human genetics (01.09.2000)
Published in Human genetics (01.09.2000)
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Published in Journal of medical genetics (01.10.2014)
Published in Journal of medical genetics (01.10.2014)
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The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat
Bennett, Christopher P, Attie-Bitach, Tania, Lilliquist, Stacie, Pasha, Shanaz, Harris, Peter C, Morgan, Neil V, Malik Sharif, Saghira, Maher, Eamonn R, Johnson, Colin A, Tee, Louise J, Maina, Esther N, Bucourt, Martine, Miller, Caroline A, Ward, Christopher J, Goranson, Erin, Trembath, Richard C, McKee, Brandy M, McKeown, Carole, Consugar, Mark, Torres, Vicente E, Cox, Phillip, Smith, Ursula M, Gattone, Vincent H, Whelan, Shelly, Aligianis, Irene A, Batman, Philip A, Woods, C Geoffrey, AlGazali, Lihadh, Punyashthiti, Rachaneekorn, Gissen, Paul, Kelly, Deirdre A
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
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Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Erratum: Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Bieleńska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P, Bonthron, David T
Published in Nature genetics (01.07.2008)
Published in Nature genetics (01.07.2008)
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Correction: Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Bieleńska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P, Bonthron, David T
Published in Nature genetics (2008)
Published in Nature genetics (2008)
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Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Biele ska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P, Bonthron, David T
Published in Nature genetics (01.07.2008)
Published in Nature genetics (01.07.2008)
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Journal Article
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation
Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A., Attié-Bitach, Tania
Published in Human mutation (01.05.2007)
Published in Human mutation (01.05.2007)
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Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism
Ezoe, K, Holmes, S A, Ho, L, Bennett, C P, Bolognia, J L, Brueton, L, Burn, J, Falabella, R, Gatto, E M, Ishii, N
Published in American journal of human genetics (01.01.1995)
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Published in American journal of human genetics (01.01.1995)
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A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
Henwood, Judy, Pickard, Chris, Leek, Jack P, Bennett, Christopher P, Crow, Yanick J, Thompson, John D R, Ahmed, Mushtaq, Watterson, Kevin G, Parsons, Jonathan M, Roberts, Emma, Lench, Nicholas J
Published in Journal of medical genetics (01.08.2001)
Published in Journal of medical genetics (01.08.2001)
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