-
2
-
-
0029761718
-
Fibrodysplasia ossificans progressiva-lessons from rare malides
-
JM Connor 1996 Fibrodysplasia ossificans progressiva-lessons from rare malides N Engl J Med 335 591 593
-
(1996)
N Engl J Med
, vol.335
, pp. 591-593
-
-
Connor, J.M.1
-
3
-
-
0031964091
-
Fibrodysplasia ossificans progressiva: Clinical lessons from a rare disease
-
R Smith 1998 Fibrodysplasia ossificans progressiva: clinical lessons from a rare disease Clin Orthop 346 7 13
-
(1998)
Clin Orthop
, vol.346
, pp. 7-13
-
-
Smith, R.1
-
6
-
-
33646348736
-
A recurrent mutation in the BMP type i receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
-
EM Shore M Xu GJ Feldman, et al. 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva Nat Genet 38 525 527
-
(2006)
Nat Genet
, vol.38
, pp. 525-527
-
-
Shore, E.M.1
Xu, M.2
Feldman, G.J.3
-
7
-
-
61649084689
-
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type i receptor ACVR1
-
FS Kaplan M Xu P Seemann, et al. 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 Hum Mutat 30 3 379 390
-
(2009)
Hum Mutat
, vol.30
, Issue.3
, pp. 379-390
-
-
Kaplan, F.S.1
Xu, M.2
Seemann, P.3
-
9
-
-
34247607292
-
The ACVR1 617G4A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva
-
M Nakajima N Haga K Takikawa, et al. 2007 The ACVR1 617G4A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva J Hum Genet 52 473 475
-
(2007)
J Hum Genet
, vol.52
, pp. 473-475
-
-
Nakajima, M.1
Haga, N.2
Takikawa, K.3
-
10
-
-
38849093307
-
A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
-
H Furuya K Ikezoe L Wang, et al. 2008 A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H) Am J Med Genet 146A 459 463
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 459-463
-
-
Furuya, H.1
Ikezoe, K.2
Wang, L.3
-
11
-
-
60749137428
-
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: Confirmations and advancements
-
R Bocciardi D Bordo M Di Duca, et al. 2009 Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements Eur J Hum Genet 17 3 311 318
-
(2009)
Eur J Hum Genet
, vol.17
, Issue.3
, pp. 311-318
-
-
Bocciardi, R.1
Bordo, D.2
Di Duca, M.3
-
12
-
-
0000163138
-
Isolation of DNA from mammalian cells
-
J. Sambrook E.F. Fritsch T. Maniatis (eds). Cold Spring Harbor Laboratory Press New York
-
Sambrook J, Fritsch EF, Maniatis T (1989) Isolation of DNA from mammalian cells. In: Sambrook J, Fritsch EF, Maniatis T (eds) Molecular cloning-a laboratory manual. Cold Spring Harbor Laboratory Press, New York
-
(1989)
Molecular Cloning-a Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
13
-
-
32244439511
-
Heritable diseases of connective tissue, epiphyseal dysplasias, and related conditions
-
D. Resnick (eds). W.B. Saunders Philadelphia
-
Goldman AB (2002) Heritable diseases of connective tissue, epiphyseal dysplasias, and related conditions. In: Resnick D (ed) Diagnosis of bone and joint disorders. W.B. Saunders, Philadelphia
-
(2002)
Diagnosis of Bone and Joint Disorders
-
-
Goldman, A.B.1
-
14
-
-
0033142884
-
Conductive hearing loss in individuals with fibrodyslasia ossificans progressive
-
CE Levy AT Lash HB Janoff FS Kaplan 1999 Conductive hearing loss in individuals with fibrodyslasia ossificans progressive Am J Audiol 8 29 33
-
(1999)
Am J Audiol
, vol.8
, pp. 29-33
-
-
Levy, C.E.1
Lash, A.T.2
Janoff, H.B.3
Kaplan, F.S.4
-
15
-
-
33751292150
-
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva
-
GT Lin HW Chang CS Liu, et al. 2006 De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva J Hum Genet 51 1083 1086
-
(2006)
J Hum Genet
, vol.51
, pp. 1083-1086
-
-
Lin, G.T.1
Chang, H.W.2
Liu, C.S.3
-
16
-
-
32244434877
-
Fibrodysplasia ossificans progressiva: A hereditary illness of multidisciplinary interest
-
PLR Delai S Kantanie C Santili, et al. 2004 Fibrodysplasia ossificans progressiva: a hereditary illness of multidisciplinary interest Rev Bras Ortop 39 205 213
-
(2004)
Rev Bras Ortop
, vol.39
, pp. 205-213
-
-
Delai, P.L.R.1
Kantanie, S.2
Santili, C.3
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