Gorlin syndrome

بواسطة Hooper, Jane E, Schofield, Jonathan, Soran, Handrean, Whitehouse, Richard W
منشور في 2013

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

بواسطة Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R
منشور في 2013

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

بواسطة Saya, Sibel, Killick, Emma, Thomas, Sarah, Taylor, Natalie, Bancroft, Elizabeth K., Rothwell, Jeanette, Benafif, Sarah, Dias, Alexander, Mikropoulos, Christos, Pope, Jenny, Chamberlain, Anthony, Gunapala, Ranga, Izatt, Louise, Side, Lucy, Walker, Lisa, Tomkins, Susan, Cook, Jackie, Barwell, Julian, Wiles, Vicki, Limb, Lauren, Eccles, Diana, Leach, Martin O., Shanley, Susan, Gilbert, Fiona J., Hanson, Helen, Gallagher, David, Rajashanker, Bala, Whitehouse, Richard W., Koh, Dow-Mu, Sohaib, S. Aslam, Evans, D. Gareth, Eeles, Rosalind A.
الحاوية / القاعدة Fam Cancer (2017)

Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

بواسطة Bancroft, Elizabeth K, Saya, Sibel, Brown, Emma, Thomas, Sarah, Taylor, Natalie, Rothwell, Jeanette, Pope, Jennifer, Chamberlain, Anthony, Page, Elizabeth, Benafif, Sarah, Hanson, Helen, Dias, Alexander, Mikropoulos, Christos, Izatt, Louise, Side, Lucy, Walker, Lisa, Donaldson, Alan, Cook, Jackie A, Barwell, Julian, Wiles, Vicki, Limb, Lauren, Eccles, Diana M, Leach, Martin O, Shanley, Susan, Gilbert, Fiona J, Gallagher, David, Rajashanker, Balashanmugam, Whitehouse, Richard W, Koh, Dow-Mu, Sohaib, S Aslam, Evans, D Gareth, Eeles, Rosalind A, Walker, Leslie G
الحاوية / القاعدة J Med Genet (2020)

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

بواسطة Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
الحاوية / القاعدة Am J Med Genet A (2014)