-
Bowen, ME, Boyden, ED, Holm, IA, Campos-Xavier, B, Bonafé, L, Superti-Furga, A, Ikegawa, S, Cormier-Daire, V, Bovée, JV, Pansuriya, TC, et al.
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
PLOS Genetics
7(4)
:
e1002050
2011
view publication
-
Kannu, P, Bateman, JF, Savarirayan, R.
Reply.
Arthritis & Rheumatism
63(2)
:
569 -570
2011
view publication
-
Andreucci, E, Aftimos, S, Alcausin, M, Haan, E, Hunter, W, Kannu, P, Kerr, B, McGillivray, G, Gardner, RM, Patricelli, MG, et al.
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Orphanet Journal of Rare Diseases
6(1)
:
37
2011
view publication
-
Savarirayan, R.
Skeletal dysplasias in fetuses: perinatal presentations and the genetic approach.
Pathology
43:
s9
2011
view publication
-
Fukuzawa, R, Holman, SK, Chow, CW, Savarirayan, R, Reeve, AE, Robertson, SP.
WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.
Journal of Medical Genetics
47(11)
:
791
2010
view publication