new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene von Lim, Derek H.K, Rehal, Pauline K, Nahorski, Michael S, Macdonald, Fiona, Claessens, Tijs, Van Geel, Michel, Gijezen, Lieke, Gille, Johan J.P, Giraud, Sophie, Richard, Stephane, van Steensel, Maurice, Menko, Fred H, Maher, Eamonn R

Volltext

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology von Tee, Louise, Lim, Derek Hk, Dias, Renuka P, Baudement, Marie-Odile, Slater, Amy A, Kirby, Gail, Hancocks, Tom, Stewart, Helen, Hardy, Carol, Macdonald, Fiona, Maher, Eamonn R

Volltext

Human imprinting syndromes von Lim, Derek HK, Maher, Eamonn R

Volltext

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability von Nahorski, Michael S., Reiman, Anne, Lim, Derek H.K., Nookala, Ravi K., Seabra, Laurence, Lu, Xiaohong, Fenton, Janine, Boora, Uncaar, Nordenskjöld, Magnus, Latif, Farida, Hurst, Laurence D., Maher, Eamonn R.

Volltext

Abstract 1848: Folliculin ( FLCN) sequence variants involved in Birt-Hogg-Dube syndrome von Lim, Derek HK, Rehal, Pauline K., Nahorski, Michael S., Macdonald, Fiona, Claessens, Tijs, Geel, Michel Van, Gijezen, Lieke, Gille, Johan JP, Giraud, Sophie, Richard, Stephane, Steensel, Maurice Van, Menko, Fred, Maher, Eamonn

Volltext

Abstract 1851: Investigation of the Birt-Hogg-Dubé tumour suppressor gene ( FLCN ) in familial and sporadic colorectal cancer von Nahorski, Michael S., Lim, Derek Hk, Martin, Lynn, Gille, Johan JP, Mckay, Kirstin, Rehal, Pauline K., Ploeger, Martijn, van Steensel, Maurice, Tomlinson, Ian P., Latif, Farida, Menko, Fred H., Maher, Eamonn R.

Volltext

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing von Smith, Philip S, Whitworth, James, West, Hannah, Cook, Jacqueline, Gardiner, Carol, Lim, Derek HK, Morrison, Patrick J, Hislop, R Gordon, Murray, Emily, NIHR Rare Disease BioResource, Tischkowitz, Marc, Warren, Anne Y, Woodward, Emma R, Maher, Eamonn R

Volltext bestellen

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing von Innes, Josie, Reali, Lisa, Clayton-Smith, Jill, Hall, Georgina, Lim, Derek Hk, Burghel, George J, French, Kim, Khan, Unzela, Walker, Daniel, Lalloo, Fiona, Evans, D Gareth R, McMullan, Dominic, Maher, Eamonn R, Woodward, Emma R

Volltext bestellen