A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation

Por Adam, Jennifer, Browning, Andrew C., Vaideanu, Daniela, Heidet, Laurence, Goodship, Judith A., Sayer, John A.
Publicado no Clin Kidney J (2013)

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

Por Howey, Richard, Mamasoula, Chrysovalanto, Töpf, Ana, Nudel, Ron, Goodship, Judith A., Keavney, Bernard D., Cordell, Heather J.
Publicado no Am J Hum Genet (2015)

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

Por Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.
Publicado no BMC Med Genet (2015)

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

Por Blair, Helen J, Tompson, Stuart, Liu, Yu-Ning, Campbell, Jennifer, MacArthur, Katie, Ponting, Chris P, Ruiz-Perez, Victor L, Goodship, Judith A
Publicado em 2011

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti

Por Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso
Publicado em 2013

Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32

Por Holmes, Lucy V., Strain, Lisa, Staniforth, Scott J., Moore, Iain, Marchbank, Kevin, Kavanagh, David, Goodship, Judith A., Cordell, Heather J., Goodship, Timothy H. J.
Publicado em 2013

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

Por 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.
Publicado em 2001

Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank

Por Lambert, Heather J., Stewart, Aisling, Gullett, Ambrose M., Cordell, Heather J., Malcolm, Sue, Feather, Sally A., Goodship, Judith A., Goodship, Timothy H. J., Woolf, Adrian S.
Publicado em 2011

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

Por Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Publicado em 2006

Título não disponível

Por Pan-Hammarström, Qiang, Lähdesmäki, Aleksi, Zhao, Yaofeng, Du, Likun, Zhao, Zhihui, Wen, Sicheng, Ruiz-Perez, Victor L., Dunn-Walters, Deborah K., Goodship, Judith A., Hammarström, Lennart
Publicado em 2006

Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux

Por Cordell, Heather J., Darlay, Rebecca, Charoen, Pimphen, Stewart, Aisling, Gullett, Ambrose M., Lambert, Heather J., Malcolm, Sue, Feather, Sally A., Goodship, Timothy H.J., Woolf, Adrian S., Kenda, Rajko B., Goodship, Judith A.
Publicado em 2010

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Por Ruiz-Perez, Victor L., Tompson, Stuart W. J., Blair, Helen J., Espinoza-Valdez, Cecilia, Lapunzina, Pablo, Silva, Elias O., Hamel, Ben, Gibbs, John L., Young, Ian D., Wright, Michael J., Goodship, Judith A.
Publicado em 2003

Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1

Por Feather, Sally A., Malcolm, Sue, Woolf, Adrian S., Wright, Victoria, Blaydon, Diana, Reid, Christopher J. D., Flinter, Frances A., Proesmans, Willem, Devriendt, Koen, Carter, Joan, Warwicker, Paul, Goodship, Timothy H. J., Goodship, Judith A.
Publicado em 2000

Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

Por 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
Publicado em 2007

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

Por Richards, Anna, Kemp, Elizabeth J., Liszewski, M. Kathryn, Goodship, Judith A., Lampe, Anne K., Decorte, Ronny, Müslümanogğlu, M. Hamza, Kavukcu, Salih, Filler, Guido, Pirson, Yves, Wen, Leana S., Atkinson, John P., Goodship, Timothy H. J.
Publicado em 2003

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

Por Tan, Huay L, Glen, Elise, Töpf, Ana, Hall, Darroch, O'Sullivan, John J, Sneddon, Linda, Wren, Christopher, Avery, Peter, Lewis, Richard J, ten Dijke, Peter, Arthur, Helen M, Goodship, Judith A, Keavney, Bernard D
Publicado em 2012

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

Por 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.
Publicado em 2014

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for...

Por Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Publicado em 2010

Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene

Por 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
Publicado em 2006

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Por Twigg, Stephen R.F., Lloyd, Deborah, Jenkins, Dagan, Elçioglu, Nursel E., Cooper, Christopher D.O., Al-Sannaa, Nouriya, Annagür, Ali, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Knight, Samantha J.L., Goodship, Judith A., Keavney, Bernard D., Beales, Philip L., Gileadi, Opher, McGowan, Simon J., Wilkie, Andrew O.M.
Publicado em 2012