-
1
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations of FGFR3
-
Bellus, G.A., Hefferon, T.W., Ortiz de Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., Kaitila, I., McIntosh, I., Francomano, C.A. (1995a). Achondroplasia is defined by recurrent G380R mutations of FGFR3, Am. J. Hum. Genet., 56, 368-373.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 368-373
-
-
Bellus, G.A.1
Hefferon, T.W.2
Ortiz de Luna, R.I.3
Hecht, J.T.4
Horton, W.A.5
Machado, M.6
Kaitila, I.7
Mcintosh, I.8
Francomano, C.A.9
-
2
-
-
0029032394
-
A recurrent mutation in the tyrosine kinase domain of the fibroblast growth factor receptor 3 causes hypochondroplasia
-
Bellus, G.A., McIntosh, I., Smith, E.A., Aylsworth, A.S., Kaitila, I., Horton, W.A., Greenhaw, G.A., Hecht, J.T., Francomano, C.A. (1995b). A recurrent mutation in the tyrosine kinase domain of the fibroblast growth factor receptor 3 causes hypochondroplasia, Nature Genet., 10, 357-359.
-
(1995)
Nature Genet.
, vol.10
, pp. 357-359
-
-
Bellus, G.A.1
McIntosh, I.2
Smith, E.A.3
Aylsworth, A.S.4
Kaitila, I.5
Horton, W.A.6
Greenhaw, G.A.7
Hecht, J.T.8
Francomano, C.A.9
-
3
-
-
0027289545
-
Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation
-
Cordone, M., Lituania, M., Bocchino, G., Passamonti, U., Toma, P., Camera, G. (1993). Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation, Prenat. Diagn., 13, 395-401.
-
(1993)
Prenat. Diagn.
, vol.13
, pp. 395-401
-
-
Cordone, M.1
Lituania, M.2
Bocchino, G.3
Passamonti, U.4
Toma, P.5
Camera, G.6
-
4
-
-
0025295670
-
Bone dysplasias; the prenatal diagnostic challenge
-
Escobar, L.M, Bixler, D., Weaver, D.D., Padilla, L.M., Golichowski, A. (1990). Bone dysplasias; the prenatal diagnostic challenge, Am. J. Med. Genet., 36, 488-494.
-
(1990)
Am. J. Med. Genet.
, vol.36
, pp. 488-494
-
-
Escobar, L.M.1
Bixler, D.2
Weaver, D.D.3
Padilla, L.M.4
Golichowski, A.5
-
5
-
-
0019812769
-
Short-limbed dwarfism: Ultrasonographic diagnosis by mensuration of fetal femoral length
-
Filly, R.A., Golbus, M.S., Carey, J.C., Hall, J.G. (1981). Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length, Radiology, 138, 653-656.
-
(1981)
Radiology
, vol.138
, pp. 653-656
-
-
Filly, R.A.1
Golbus, M.S.2
Carey, J.C.3
Hall, J.G.4
-
6
-
-
0022387122
-
Prenatal detection of fetal anomalies with sonography
-
Fleischer, A.C., Kirchner, S.G., Thieme, G.A. (1985). Prenatal detection of fetal anomalies with sonography, Pediatr. Clin. North. Am., 32, 1523-1536.
-
(1985)
Pediatr. Clin. North. Am.
, vol.32
, pp. 1523-1536
-
-
Fleischer, A.C.1
Kirchner, S.G.2
Thieme, G.A.3
-
7
-
-
0018400732
-
Invited editorial comment: Failure of early prenatal diagnosis in classic achondroplasia
-
Hall, J.G., Golbus, M.S., Graham, C.B., Pagon, R.A., Luthy, D.A., Filly, R.A. (1979). Invited editorial comment: failure of early prenatal diagnosis in classic achondroplasia, Am. J. Med. Genet., 3, 371-375.
-
(1979)
Am. J. Med. Genet.
, vol.3
, pp. 371-375
-
-
Hall, J.G.1
Golbus, M.S.2
Graham, C.B.3
Pagon, R.A.4
Luthy, D.A.5
Filly, R.A.6
-
8
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by finestructure linkage disequilibrium mapping
-
Hästbacka, J., de la Chapelle A., Mahtani, M.M., Clines, G., Reeve-Daly, M.P., Daly, M., Hamilton, B.A., Kusumi, K., Trivedi, B., Weaver, A., Coloma, A., Lovett, M., Buckler, A., Kaitila, I., Lander, E.S. (1994). The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by finestructure linkage disequilibrium mapping, Cell, 28, 1073-1087.
-
(1994)
Cell
, vol.28
, pp. 1073-1087
-
-
Hästbacka, J.1
De la Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
Coloma, A.11
Lovett, M.12
Buckler, A.13
Kaitila, I.14
Lander, E.S.15
-
9
-
-
0022654694
-
In utero analysis of heterozygous achondroplasia: Variable time of onset as detected by femur length measurements
-
Kurtz, A.B., Filly, R.A., Wapner, R.J., Golbus, M.S., Rifkin, M.R., Gallen, P.W., Pasto, M.E. (1986). In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements, J. Ultrasound Med., 5, 137-140.
-
(1986)
J. Ultrasound Med.
, vol.5
, pp. 137-140
-
-
Kurtz, A.B.1
Filly, R.A.2
Wapner, R.J.3
Golbus, M.S.4
Rifkin, M.R.5
Gallen, P.W.6
Pasto, M.E.7
-
10
-
-
0025118538
-
Usefulness of a short femur in the in utero detection of skeletal dysplasias
-
Kurtz, A.B., Needelman, L. Wapner, R.J., Hilpert, P., Kuhlman, K., Burns, P.N., Feld, R.I., Mitchell, D.G., Segal, S., Blum, L., Berkey, H., Goldberg, B.B. (1990). Usefulness of a short femur in the in utero detection of skeletal dysplasias, Radiology, 177, 197-200.
-
(1990)
Radiology
, vol.177
, pp. 197-200
-
-
Kurtz, A.B.1
Needelman, L.2
Wapner, R.J.3
Hilpert, P.4
Kuhlman, K.5
Burns, P.N.6
Feld, R.I.7
Mitchell, D.G.8
Segal, S.9
Blum, L.10
Berkey, H.11
Goldberg, B.B.12
-
11
-
-
0021999088
-
Ultrasonic demonstration of fetal skeletal dysplasia: Case reports
-
Muller, L.M., Cremin, B.J. (1985). Ultrasonic demonstration of fetal skeletal dysplasia: case reports, S. Afr. Med. J., 67, 222-226.
-
(1985)
S. Afr. Med. J.
, vol.67
, pp. 222-226
-
-
Muller, L.M.1
Cremin, B.J.2
-
12
-
-
0018379162
-
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiologic features in skull and spine
-
Oberklaid, F., Danks, D.M., Jensen, F., Stace, L., Rosshandler, S. (1979). Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiologic features in skull and spine, J. Med Genet., 16, 140-146.
-
(1979)
J. Med Genet.
, vol.16
, pp. 140-146
-
-
Oberklaid, F.1
Danks, D.M.2
Jensen, F.3
Stace, L.4
Rosshandler, S.5
-
13
-
-
0029125688
-
Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester
-
Patel, M.D., Filly, R.A. (1995). Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester, Radiology, 196, 541-545.
-
(1995)
Radiology
, vol.196
, pp. 541-545
-
-
Patel, M.D.1
Filly, R.A.2
-
14
-
-
0024804984
-
The prenatal diagnosis of skeletal dysplasias
-
Romero, R., Sirtori, M. (1989). The prenatal diagnosis of skeletal dysplasias. Clin. Diagn. Ultrasound, 25, 163-202.
-
(1989)
Clin. Diagn. Ultrasound
, vol.25
, pp. 163-202
-
-
Romero, R.1
Sirtori, M.2
-
15
-
-
0025020992
-
Short-limb skeletal dysplasias: Evaluation of the fetal spine with sonography and radiography
-
Rouse, G.A., Filly, R.A., Toomey, F., Grube, G.L. (1990). Short-limb skeletal dysplasias: evaluation of the fetal spine with sonography and radiography, Radiology, 174, 177-180.
-
(1990)
Radiology
, vol.174
, pp. 177-180
-
-
Rouse, G.A.1
Filly, R.A.2
Toomey, F.3
Grube, G.L.4
-
16
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
-
Rousseau, F., Bonaventure, J., Legeal-Mallet, L., Pelet, A., Rozet, J.M., Maroteaux, P., Merrer, M., Munnich, A. (1994). Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia, Nature, 371, 252-254.
-
(1994)
Nature
, vol.371
, pp. 252-254
-
-
Rousseau, F.1
Bonaventure, J.2
Legeal-Mallet, L.3
Pelet, A.4
Rozet, J.M.5
Maroteaux, P.6
Merrer, M.7
Munnich, A.8
-
17
-
-
0029298121
-
Stop codon FGFR3 mutations in thanatophoric dwarfism type I
-
Rousseau, F., Saugier, P., Le Merrer, M., Munnich, A., Delezoide, A., Maroteaux, P., Bonaventure, J., Narcy, F., Sanak, M. (1995). Stop codon FGFR3 mutations in thanatophoric dwarfism type I, Nature Genet., 10, 11-12.
-
(1995)
Nature Genet.
, vol.10
, pp. 11-12
-
-
Rousseau, F.1
Saugier, P.2
Le Merrer, M.3
Munnich, A.4
Delezoide, A.5
Maroteaux, P.6
Bonaventure, J.7
Narcy, F.8
Sanak, M.9
-
18
-
-
0027381853
-
Prenatal diagnosis of the skeletal dysplasias
-
Sharony, R., Browne, C., Lachman, R.S., Rimoin, D.L. (1993). Prenatal diagnosis of the skeletal dysplasias, Am. J. Obstet. Gynecol., 69, 668-675.
-
(1993)
Am. J. Obstet. Gynecol.
, vol.69
, pp. 668-675
-
-
Sharony, R.1
Browne, C.2
Lachman, R.S.3
Rimoin, D.L.4
-
19
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang, R., Thompson, L.M., Zhu, Y.Z., Church, D.M., Fielder, T.J., Bocian, M., Winokur, S.T., Wasmuth, J.J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia, Cell, 78, 335-342.
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
Church, D.M.4
Fielder, T.J.5
Bocian, M.6
Winokur, S.T.7
Wasmuth, J.J.8
-
20
-
-
0025392480
-
Prenatal sonographic evaluation of short-limbed dwarfism: An algorithmic approach
-
Spirt, B.A., Oliphant, M., Gottlieb, R.H., Gordon, L. (1990). Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approach. Radiographics, 10, 217-236.
-
(1990)
Radiographics
, vol.10
, pp. 217-236
-
-
Spirt, B.A.1
Oliphant, M.2
Gottlieb, R.H.3
Gordon, L.4
-
21
-
-
0028872752
-
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
-
Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.Z., Wilkins, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Wasmuth, J.J. (1995). Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3, Nature Genet., 9, 321-328.
-
(1995)
Nature Genet.
, vol.9
, pp. 321-328
-
-
Tavormina, P.L.1
Shiang, R.2
Thompson, L.M.3
Zhu, Y.Z.4
Wilkins, D.J.5
Lachman, R.S.6
Wilcox, W.R.7
Rimoin, D.L.8
Cohn, D.H.9
Wasmuth, J.J.10
-
22
-
-
0027316125
-
The facial profile in the diagnosis of achondroplasia
-
Turner, G.M., Twining, P. (1993). The facial profile in the diagnosis of achondroplasia, Clin. Radiol., 47, 389-395.
-
(1993)
Clin. Radiol.
, vol.47
, pp. 389-395
-
-
Turner, G.M.1
Twining, P.2
-
23
-
-
0022343492
-
Prenatal diagnosis of dwarfism by ultrasound screening
-
Weldner, B.M., Persson, P.H., Ivarsson, S.A. (1985). Prenatal diagnosis of dwarfism by ultrasound screening, Arch. Dis. Child., 60, 1070-1072.
-
(1985)
Arch. Dis. Child.
, vol.60
, pp. 1070-1072
-
-
Weldner, B.M.1
Persson, P.H.2
Ivarsson, S.A.3
|