Publications 2010 - Professor Stephen Robertson

Yoshida A, Maoate K, Blakelock R, Robertson S, Beasley S (2010) Long-term functional outcomes in children with Currarino syndrome Pediatr Surg Int.26(7):677-81.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo I, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Velten N, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A (2010) Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features. Am J Med Genet 152A(10):2543-9

Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L (2010) Lung disease associated with periventricular nodular heterotopia and a FLNA mutation. Eur J Med Genet in press

Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N (2010)  Expansion of the spectrum of FLNA mutations associated with Melnick Needles syndrome. Molecular Syndromology 1(3):121-126.

Kapur RP, Robertson SP, Hannibal MC, Finn L, Morgan T, van Kogelenberg M, Loren DJ (2010) Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and X-linked intestinal pseudo-obstruction. Am J Surg Pathol.34(10):1528-43.

Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP (2010)  WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet 47 791-794.

Yu Sun Y, Almomani R, Aten E, Celli J,v an der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Ariyurek Y,den Dunnen J, Breuning M (2010). Terminal Osseous Dysplasia is Caused by a Single Recurrent Mutation in the FLNA Gene. Am J Hum Genet 87(1):146-53.

van Kogelenberg M, Ghedia S, McGillivray G,  Leventer R, MacDermot K, Nelson J, Nagarajan L, Veltman JA, de Brouwer APM, Gardner RJM,  van Bokhoven H, Kirk EP, Robertson SP(2010) Periventricular heterotopia in common microdeletion syndromes. Mol Syndromology 1:35-41.