De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
Fertleman, Caroline R., Baker, Mark D., Parker, Keith A., Moffatt, Sarah, Elmslie, Frances V., Abrahamsen, Bjarke, Ostman, Johan, Klugbauer, Norbert, Wood, John N., Gardiner, R. Mark, Rees, Michele
Published in Neuron (Cambridge, Mass.) (07.12.2006)
Published in Neuron (Cambridge, Mass.) (07.12.2006)
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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
SIMPSON, Michael A, IRVING, Melita D, KIM, Katherine H, PAULI, Richard M, AFTIMOS, Salim, STEWART, Helen, CHONG AE KIM, HOLDER- ESPINASSE, Muriel, ROBERTSON, Stephen P, DRAKE, William M, TREMBATH, Richard C, ASILMAZ, Esra, GRAY, Mary J, DAFOU, Dimitra, ELMSLIE, Frances V, MANSOUR, Sahar, HOLDER, Sue E, BRAIN, Caroline E, BURTON, Barbara K
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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A new Nav1.7 sodium channel mutation I234T in a child with severe pain
Ahn, Hye-Sook, Dib-Hajj, Sulayman D, Cox, James J, Tyrrell, Lynda, Elmslie, Frances V, Clarke, Antonia A, Drenth, Joost P H, Woods, C Geoffrey, Waxman, Stephen G
Published in European journal of pain (01.10.2010)
Published in European journal of pain (01.10.2010)
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
KOOLEN, David A, KRAMER, Jamie M, SAU WAI CHEUNG, GILISSEN, Christian, VERWIEL, Eugene T. P, MARTENS, Sarah, FEUTH, Ton, BONGERS, Ernie M. H. F, DE VRIES, Petra, SCHEFFER, Hans, VISSERS, Lisenka E. L. M, DE BROUWER, Arjan P. M, NEVELING, Kornelia, BRUNNER, Han G, VELTMAN, Joris A, SCHENCKL, Annette, YNTEMA, Helgerg, DE VRIES, Bert B. A, NILLESEN, Willy M, MOORE-BARTON, Heather L, ELMSLIE, Frances V, TOUTAIN, Annick, AMIEL, Jeanne, MALAN, Valérie, TSAI, Anne Chun-Hui
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q
Elmslie, Frances V., Rees, Michele, Williamson, Magali P., Kerr, Michael, Kjeldsen, Marianne J., An Pang, Kiang, Sundqvist, Anders, Friis, Mögens L., Chadwick, David, Richens, Alan, Covanis, Athanasios, Santos, Manuela, Arzimanoglou, Alexis, Panayiotopoulos, Chrysostomos P., Curtis, David, Whitehouse, William P., Gardiner, R. Mark
Published in Human molecular genetics (01.08.1997)
Published in Human molecular genetics (01.08.1997)
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Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
Elmslie, F V, Hutchings, S M, Spencer, V, Curtis, A, Covanis, T, Gardiner, R M, Rees, M
Published in Journal of medical genetics (01.05.1996)
Published in Journal of medical genetics (01.05.1996)
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