Family history in primary care: understanding GPs' resistance to clinical genetics — qualitative study

Por Mathers, Jonathan, Greenfield, Sheila, Metcalfe, Alison, Cole, Trevor, Flanagan, Sarah, Wilson, Sue
Publicado em 2010

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

Por Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Publicado em 2010

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Por Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina
Publicado em 2000

Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

Por Parks, Michael, Court, Samantha, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie
Publicado no Prenat Diagn (2016)

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

Por Parks, Michael, Court, Samantha, Bowns, Benjamin, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie
Publicado no Eur J Hum Genet (2017)

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Por Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R. P., Rahman, Nazneen
Publicado em 2003

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Por Trochet, Delphine, O’Brien, Louise M., Gozal, David, Trang, Ha, Nordenskjöld, Agneta, Laudier, Béatrice, Svensson, Pär-Johan, Uhrig, Sabine, Cole, Trevor, Munnich, Arnold, Gaultier, Claude, Lyonnet, Stanislas, Amiel, Jeanne
Publicado em 2005

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Por Nishimura, Gen, Nakashima, Eiji, Hirose, Yuichiro, Cole, Trevor, Cox, Phillip, Cohn, Daniel H, Rimoin, David L, Lachman, Ralph S, Miyamoto, Yoshinari, Kerr, Bronwyn, Unger, Sheila, Ohashi, Hirofumi, Superti‐Furga, Andrea, Ikegawa, Shiro
Publicado em 2007

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Por Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R. P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Publicado em 2005

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Por Hanson, Dan, Murray, Philip G., O'Sullivan, James, Urquhart, Jill, Daly, Sarah, Bhaskar, Sanjeev S., Biesecker, Leslie G., Skae, Mars, Smith, Claire, Cole, Trevor, Kirk, Jeremy, Chandler, Kate, Kingston, Helen, Donnai, Dian, Clayton, Peter E., Black, Graeme C.M.
Publicado em 2011

Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Por Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
Publicado em 2010

The Development of a Clinical Screening Instrument For Tumour Predisposition Syndromes In Childhood Cancer Patients

Por Hopman, Saskia M. J., Merks, Johannes H. M., de Borgie, Corianne A. J. M., Aalfs, C. M., Biesecker, Leslie G., Cole, Trevor, Eng, Charis, Legius, Eric, Maher, Eamonn R., van Noesel, Max M., Verloes, Alain, Viskochil, David H., Wagner, Anja, Weksberg, Rosanna, Caron, Huib N., Hennekam, Raoul C. M.
Publicado no Eur J Cancer (2013)

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado em 2011

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Por Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.
Publicado em 2004

TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

Por Gianetti, Elena, Tusset, Cintia, Noel, Sekoni D., Au, Margaret G., Dwyer, Andrew A., Hughes, Virginia A., Abreu, Ana Paula, Carroll, Jessica, Trarbach, Ericka, Silveira, Leticia F. G., Costa, Elaine M. F., de Mendonça, Berenice Bilharinho, de Castro, Margaret, Lofrano, Adriana, Hall, Janet E., Bolu, Erol, Ozata, Metin, Quinton, Richard, Amory, John K., Stewart, Susan E., Arlt, Wiebke, Cole, Trevor R., Crowley, William F., Kaiser, Ursula B., Latronico, Ana Claudia, Seminara, Stephanie B.
Publicado em 2010

Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer

Por Castro, Elena, Goh, Chee, Olmos, David, Saunders, Ed, Leongamornlert, Daniel, Tymrakiewicz, Malgorzata, Mahmud, Nadiya, Dadaev, Tokhir, Govindasami, Koveela, Guy, Michelle, Sawyer, Emma, Wilkinson, Rosemary, Ardern-Jones, Audrey, Ellis, Steve, Frost, Debra, Peock, Susan, Evans, D. Gareth, Tischkowitz, Marc, Cole, Trevor, Davidson, Rosemarie, Eccles, Diana, Brewer, Carole, Douglas, Fiona, Porteous, Mary E., Donaldson, Alan, Dorkins, Huw, Izatt, Louise, Cook, Jackie, Hodgson, Shirley, Kennedy, M. John, Side, Lucy E., Eason, Jacqueline, Murray, Alex, Antoniou, Antonis C., Easton, Douglas F., Kote-Jarai, Zsofia, Eeles, Rosalind
Publicado em 2013

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Por de Kock, Leanne, Sabbaghian, Nelly, Plourde, François, Srivastava, Archana, Weber, Evan, Soglio, Dorothée Bouron-Dal, Hamel, Nancy, Choi, Joon Hyuk, Park, Sung-Hye, Deal, Cheri L., Kelsey, Megan M., Dishop, Megan K., Esbenshade, Adam, Kuttesch, John F., Jacques, Thomas S., Perry, Arie, Leichter, Heinz, Maeder, Philippe, Brundler, Marie-Anne, Warner, Justin, Neal, James, Zacharin, Margaret, Korbonits, Márta, Cole, Trevor, Traunecker, Heidi, McLean, Thomas W., Rotondo, Fabio, Lepage, Pierre, Albrecht, Steffen, Horvath, Eva, Kovacs, Kalman, Priest, John R., Foulkes, William D.
Publicado em 2014

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

Por Raymond, F. Lucy, Tarpey, Patrick S., Edkins, Sarah, Tofts, Calli, O’Meara, Sarah, Teague, Jon, Butler, Adam, Stevens, Claire, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Dicks, Ed, Gray, Kristian, Halliday, Kelly, Hills, Katy, Hinton, Jonathon, Jones, David, Menzies, Andrew, Perry, Janet, Raine, Keiran, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Shaw, Marie, Boyle, Jackie, Kerr, Bronwyn, Turner, Gillian, Quarrell, Oliver, Cole, Trevor, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Futreal, P. Andrew
Publicado em 2007

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status

Por Pooley, Karen A., McGuffog, Lesley, Barrowdale, Daniel, Frost, Debra, Ellis, Steve D., Platte, Radka, Fineberg, Elena, Izatt, Louise, Adlard, Julian, Bardwell, Julian, Brewer, Carole, Cole, Trevor, Cook, Jackie, Davidson, Rosemary, Donaldson, Alan, Dorkins, Huw, Douglas, Fiona, Eason, Jacqueline, Houghton, Catherine, Kennedy, M. John, McCann, Emma, Miedzybrobzka, Zosia, Murray, Alex, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Tischkowitz, Marc, Walker, Lisa, Hodgson, Shirley, Eccles, Diana M., Morrison, Patrick J., Evans, D. Gareth, Eeles, Rosalind A., Antoniou, Antonis C., Easton, Douglas F., Dunning, Alison M.
Publicado no Cancer Epidemiol Biomarkers Prev (2014)

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

Por Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.
Publicado em 2012