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1.

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze, Denny; Neubauer, Dorothée; Cormier-Daire, Valerie; Delrue, Marie-Ange; Dieux-Coeslier, Anne; Hasegawa, Tomonobu; Holmberg, Eva E; Koenig, Rainer; Krueger, Gabriele; Schanze, Ina; Seemanova, Eva; Shaw, Adam C; Vogt, Julie; Volleth, Marianne; Reis, André; Meinecke, Peter; Hennekam, Raoul C M; Zenker, Martin.

Hum Mutat; 35(9): 1092-100, 2014 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-24924640

2.

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.

McRonald, Fiona E; Pethick, Joanna; Santaniello, Francesco; Shand, Brian; Tyson, Adele; Tulloch, Oliver; Goel, Shilpi; Lüchtenborg, Margreet; Borthwick, Gillian M; Turnbull, Clare; Shaw, Adam C; Monahan, Kevin J; Frayling, Ian M; Hardy, Steven; Burn, John.

Eur J Hum Genet; 32(5): 529-538, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38355963

3.

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

Malan, Valérie; Rajan, Diana; Thomas, Sophie; Shaw, Adam C; Louis Dit Picard, Hélène; Layet, Valérie; Till, Marianne; van Haeringen, Arie; Mortier, Geert; Nampoothiri, Sheela; Puseljic, Silvija; Legeai-Mallet, Laurence; Carter, Nigel P; Vekemans, Michel; Munnich, Arnold; Hennekam, Raoul C; Colleaux, Laurence; Cormier-Daire, Valérie.

Am J Hum Genet; 87(2): 189-98, 2010 Aug 13.

Artículo en Inglés | MEDLINE | ID: mdl-20673863

4.

The face in congenital melanocytic nevus syndrome.

Kinsler, Veronica; Shaw, Adam C; Merks, Johannes H; Hennekam, Raoul C.

Am J Med Genet A; 158A(5): 1014-9, 2012 May.

Artículo en Inglés | MEDLINE | ID: mdl-22438093

5.

Phenotype and natural history in Marshall-Smith syndrome.

Shaw, Adam C; van Balkom, Inge D C; Bauer, Mislen; Cole, Trevor R P; Delrue, Marie-Ange; Van Haeringen, Arie; Holmberg, Eva; Knight, Samantha J L; Mortier, Geert; Nampoothiri, Sheela; Puseljic, Silvija; Zenker, Martin; Cormier-Daire, Valerie; Hennekam, Raoul C M.

Am J Med Genet A; 152A(11): 2714-26, 2010 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-20949508

6.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas, Saskia M; Shaw, Adam C; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R; Cobben, JanMaarten; de Man, Stella A; Den Hollander, Nicolette S; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C; Hoogeboom, A Jeannette M; Jamsheer, Aleksander; Latos-Bielenska, Anna; Maat-Kievit, Anneke; Magnani, Cinzia; Marcelis, Carlo; Mathijssen, Inge B; Nielsen, Maartje; Otten, Ellen; Ousager, Lilian B; Pilch, Jacek; Plomp, Astrid; Poke, Gemma; Poluha, Anna; Posmyk, Renata; Rieubland, Claudine; Silengo, Margharita; Simon, Marleen; Steichen, Elisabeth; Stumpel, Connie; Szakszon, Katalin; Polonkai, Edit; van den Ende, Jenneke; van der Steen, Antony; van Essen, Ton; van Haeringen, Arie; van Hagen, Johanna M; Verheij, Joke B G M; Mannens, Marcel M; Hennekam, Raoul C.

Eur J Med Genet; 58(5): 279-92, 2015 May.

Artículo en Inglés | MEDLINE | ID: mdl-25792522

7.

Interpreting humanity's genes.

Shaw, Adam C; Hennekam, Raoul C M.

Eur J Med Genet; 52(6): 379-80, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-19679203

8.

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas, Kamini; Shaw, Adam C; Crosby, Andrew H; Newbury-Ecob, Ruth; Greenhalgh, Lynn; Temple, Isabel K; Law, Caroline; Patel, Amisha; Patton, Michael A; Jeffery, Steve.

J Hum Genet; 50(1): 21-25, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-15690106

9.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion, Andra; Tartaglia, Marco; Song, Xiaoling; Kalidas, Kamini; van der Burgt, Ineke; Shaw, Adam C; Ming, Jeffrey E; Zampino, Giuseppe; Zackai, Elaine H; Dean, John C S; Somer, Mirja; Parenti, Giancarlo; Crosby, Andrew H; Patton, Michael A; Gelb, Bruce D; Jeffery, Steve.

Hum Genet; 111(4-5): 421-7, 2002 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-12384786

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