-
2
-
-
0034464005
-
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
-
Vajo Z, Francomano CA, Wilkin DJ: The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000; 21: 23-39.
-
(2000)
Endocr Rev
, vol.21
, pp. 23-39
-
-
Vajo, Z.1
Francomano, C.A.2
Wilkin, D.J.3
-
3
-
-
0028872752
-
Thanatophoric dysplasia (types i and II) caused by distinct mutations in fibroblast growth factor receptor 3
-
Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995; 9: 321-328.
-
(1995)
Nat Genet
, vol.9
, pp. 321-328
-
-
Tavormina, P.L.1
Shiang, R.2
Thompson, L.M.3
Zhu, Y.Z.4
Wilkin, D.J.5
Lachman, R.S.6
Wilcox, W.R.7
Rimoin, D.L.8
Cohn, D.H.9
Wasmuth, J.J.10
-
4
-
-
49649095917
-
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis
-
Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, et al: Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 2008; 146A:1917-1924.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1917-1924
-
-
Krakow, D.1
Alanay, Y.2
Rimoin, L.P.3
Lin, V.4
Wilcox, W.R.5
Lachman, R.S.6
-
5
-
-
0028046295
-
Clinical-molecular correlations in the skeletal dysplasias
-
Rimoin DL, Cohn DH, Eyre D: Clinical-molecular correlations in the skeletal dysplasias. Pediatr Radiol 1994; 24: 425-426.
-
(1994)
Pediatr Radiol
, vol.24
, pp. 425-426
-
-
Rimoin, D.L.1
Cohn, D.H.2
Eyre, D.3
-
6
-
-
36549047040
-
The skeletal dysplasias: Clinical-molecular correlations
-
Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y: The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci 2007; 1117: 302-309.
-
(2007)
Ann N y Acad Sci
, vol.1117
, pp. 302-309
-
-
Rimoin, D.L.1
Cohn, D.2
Krakow, D.3
Wilcox, W.4
Lachman, R.S.5
Alanay, Y.6
-
7
-
-
55149106566
-
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis
-
Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther 2008; 24: 420-424.
-
(2008)
Fetal Diagn Ther
, vol.24
, pp. 420-424
-
-
Tsutsumi, S.1
Sawai, H.2
Nishimura, G.3
Hayasaka, K.4
Kurachi, H.5
-
8
-
-
47549108111
-
A case of thanatopho ric dysplasia: The early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis
-
Wong HS, Kidd A, Zuccollo J, Tuohy J, Strand L, Tait J, Pringle KC: A case of thanatopho ric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis. Fetal Diagn Ther 2008; 24: 71-73.
-
(2008)
Fetal Diagn Ther
, vol.24
, pp. 71-73
-
-
Wong, H.S.1
Kidd, A.2
Zuccollo, J.3
Tuohy, J.4
Strand, L.5
Tait, J.6
Pringle, K.C.7
-
9
-
-
0035892809
-
Occurrence of thanatophoric dysplasia type i (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype
-
Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M: Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 2001; 104: 277-281.
-
(2001)
Am J Med Genet
, vol.104
, pp. 277-281
-
-
Camera, G.1
Baldi, M.2
Strisciuglio, G.3
Concolino, D.4
Mastroiacovo, P.5
Baffico, M.6
-
10
-
-
0030567966
-
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene
-
Pokharel RK, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, Onishi S, Matsuo M: Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. Biochem Biophys Res Commun 1996; 227: 236-239.
-
(1996)
Biochem Biophys Res Commun
, vol.227
, pp. 236-239
-
-
Pokharel, R.K.1
Alimsardjono, H.2
Takeshima, Y.3
Nakamura, H.4
Naritomi, K.5
Hirose, S.6
Onishi, S.7
Matsuo, M.8
|