Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32 von Holmes, Lucy V, Strain, Lisa, Staniforth, Scott J, Moore, Iain, Marchbank, Kevin, Kavanagh, David, Goodship, Judith A, Cordell, Heather J, Goodship, Timothy H J

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Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome von Zipfel, Peter F, Edey, Matthew, Heinen, Stefan, Józsi, Mihály, Richter, Heiko, Misselwitz, Joachim, Hoppe, Bernd, Routledge, Danny, Strain, Lisa, Hughes, Anne E, Goodship, Judith A, Licht, Christoph, Goodship, Timothy H J, Skerka, Christine

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care von Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

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Functionally significant, rare transcription factor variants in tetralogy of Fallot von Töpf, Ana, Griffin, Helen R, Glen, Elise, Soemedi, Rachel, Brown, Danielle L, Hall, Darroch, Rahman, Thahira J, Eloranta, Jyrki J, Jüngst, Christoph, Stuart, A Graham, O'Sullivan, John, Keavney, Bernard D, Goodship, Judith A

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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene von Venables, Julian P, Strain, Lisa, Routledge, Danny, Bourn, David, Powell, Helen M, Warwicker, Paul, Diaz-Torres, Martha L, Sampson, Anne, Mead, Paul, Webb, Michelle, Pirson, Yves, Jackson, Michael S, Hughes, Anne, Wood, Katrina M, Goodship, Judith A, Goodship, Timothy H J

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Mutations in complement factor i predispose to development of atypical hemolytic uremic syndrome von KAVANAGH, David, KEMP, Elizabeth J, MAYLAND, Elizabeth, WINNEY, Robin J, DUFFIELD, Jeremy S, WARWICK, Graham, RICHARDS, Anna, WARD, Roy, GOODSHIP, Judith A, GOODSHIP, Timothy H. J

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome von Jeggo, Penny A, O'Driscoll, Mark, Ruiz-Perez, Victor L, Woods, C. Geoffrey, Goodship, Judith A

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Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome von Richards, Anna, Kemp, Elizabeth J., Liszewski, M. Kathryn, Goodship, Judith A., Lampe, Anne K., Decorte, Ronny, Müslümanoǧglu, M. Hamza, Kavukcu, Salih, Filler, Guido, Pirson, Yves, Wen, Leana S., Atkinson, John P., Timothy H. J. Goodship

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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls von Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

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Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation von Howey, Richard, Mamasoula, Chrysovalanto, Töpf, Ana, Nudel, Ron, Goodship, Judith A., Keavney, Bernard D., Cordell, Heather J.

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Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia von Ruiz-Perez, Victor L, Blair, Helen J, Rodriguez-Andres, M Elena, Blanco, Maria Jose, Wilson, Amy, Liu, Yu-Ning, Miles, Colin, Peters, Heiko, Goodship, Judith A

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Factors determining penetrance in familial atypical haemolytic uraemic syndrome von Sansbury, Francis H, Cordell, Heather J, Bingham, Coralie, Bromilow, Gilly, Nicholls, Anthony, Powell, Roy, Shields, Bev, Smyth, Lucy, Warwicker, Paul, Strain, Lisa, Wilson, Valerie, Goodship, Judith A, Goodship, Timothy H J, Turnpenny, Peter D

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Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus von Blair, Helen J, Tompson, Stuart, Liu, Yu-Ning, Campbell, Jennifer, MacArthur, Katie, Ponting, Chris P, Ruiz-Perez, Victor L, Goodship, Judith A

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Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux von CORDELL, Heather J, DARLAY, Rebecca, KENDA, Rajko B, GOODSHIP, Judith A, CHAROEN, Pimphen, STEWART, Aisling, GULLETT, Ambrose M, LAMBERT, Heather J, MALCOLM, Sue, FEATHER, Sally A, GOODSHIP, Timothy H. J, WOOLF, Adrian S

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Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy von Wilson, Valerie, PhD, Darlay, Rebecca, PhD, Wong, William, MD, Wood, Katrina M., MD, McFarlane, Jeannette, MD, Schejbel, Lone, MD, Schmidt, Ida M., MD, Harris, Claire L., PhD, Tellez, James, BSc, Hunze, Eva-Maria, PhD, Marchbank, Kevin, PhD, Goodship, Judith A., MD, Goodship, Timothy H.J., MD

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Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition von Richards, Anna, Buddles, Mark R., Donne, Rosemary L., Kaplan, Bernard S., Kirk, Edwin, Venning, Michael C., Tielemans, Christian L., Goodship, Judith A., Goodship, Timothy H.J.

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Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base von Pacheco, María, Valencia, María, Caparrós-Martín, José A, Mulero, Francisca, Goodship, Judith A, Ruiz-Perez, Victor L

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A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti von Towers, Rachel E, Murgiano, Leonardo, Millar, David S, Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A, Clarke, Angus J, Leeb, Tosso

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Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report von Montgomery, Emma, Sayer, John A, Baines, Laura A, Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A, Otto, Edgar A

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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients von TOMPSON, Stuart W. J, RUIZ-PEREZ, Victor L, BLAIR, Helen J, BARTON, Stephanie, NAVARRO, Victoria, ROBSON, Joanne L, WRIGHT, Michael J, GOODSHIP, Judith A

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