-
2
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations of FGFR-3
-
Bellus G, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano C (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR-3, Am J Hum Genet 56:368-373
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368-373
-
-
Bellus, G.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.9
-
3
-
-
0029912958
-
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for chondroplasia, hypochondroplasia, and thanatophoric dwarfism
-
Bonaventure J, Rousseau F, Legeai-Mallet, Le Merrer M, Munnich M, Maroteaux P (1996) Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for chondroplasia, hypochondroplasia, and thanatophoric dwarfism. Am J Med Genet 63:148-154
-
(1996)
Am J Med Genet
, vol.63
, pp. 148-154
-
-
Bonaventure, J.1
Rousseau, F.2
Legeai-Mallet3
Le Merrer, M.4
Munnich, M.5
Maroteaux, P.6
-
4
-
-
0033753277
-
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
-
De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, Toma P, Venturini PL (2000) Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. Prenat Diagn 20:835-837
-
(2000)
Prenat Diagn
, vol.20
, pp. 835-837
-
-
De Biasio, P.1
Prefumo, F.2
Baffico, M.3
Baldi, M.4
Priolo, M.5
Lerone, M.6
Toma, P.7
Venturini, P.L.8
-
5
-
-
0025295670
-
Bone dysplasias: The prenatal diagnostic challenge
-
Escobar LF, Bixler D, Weaver DD, Padilla LM, 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.F.1
Bixler, D.2
Weaver, D.D.3
Padilla, L.M.4
Golichowski, A.5
-
6
-
-
0027050480
-
Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity
-
Givol D, Yayon A (1992) Complexity of FGF receptors: genetic basis for structural diversity and functional specificity. FASEB J 6:3362-3369
-
(1992)
FASEB J
, vol.6
, pp. 3362-3369
-
-
Givol, D.1
Yayon, A.2
-
7
-
-
0028609484
-
Fetal biometry of skeletal dysplasias: A multicentric study
-
Goncalves L, Jeanty P (1994) Fetal biometry of skeletal dysplasias: a multicentric study. J Ultrasound Med 13:767-775
-
(1994)
J Ultrasound Med
, vol.13
, pp. 767-775
-
-
Goncalves, L.1
Jeanty, P.2
-
8
-
-
0030239160
-
Second trimester of thanatophoric dysplasia
-
Guu WS, Hsu TT, Chang SY, Chang JC, Huang CC (1996) Second trimester of thanatophoric dysplasia. Chang Keng I Hsueh 19:258-263
-
(1996)
Chang Keng I Hsueh
, vol.19
, pp. 258-263
-
-
Guu, W.S.1
Hsu, T.T.2
Chang, S.Y.3
Chang, J.C.4
Huang, C.C.5
-
9
-
-
0031731839
-
Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia
-
Hersh JH, Angle B, Pietrantoni M, Cook VD, Spinnato JA, Clark AL, Kurtzman JT, Bendon RW, Gerassimides A (1998) Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia. South Med J 91:1137-1142
-
(1998)
South Med J
, vol.91
, pp. 1137-1142
-
-
Hersh, J.H.1
Angle, B.2
Pietrantoni, M.3
Cook, V.D.4
Spinnato, J.A.5
Clark, A.L.6
Kurtzman, J.T.7
Bendon, R.W.8
Gerassimides, A.9
-
10
-
-
0020645412
-
Discordance for the Kleeblattschaedel anomaly in monozygotic twins with thanatophoric dysplasia
-
Horton WA, Harris DJ, Collins DL (1983) Discordance for the Kleeblattschaedel anomaly in monozygotic twins with thanatophoric dysplasia. Am J Med Genet 15:97-101
-
(1983)
Am J Med Genet
, vol.15
, pp. 97-101
-
-
Horton, W.A.1
Harris, D.J.2
Collins, D.L.3
-
11
-
-
0027344852
-
Structural and functional diversity in the FGF receptor multigene family
-
Johnson DE, Williams LT (1993) Structural and functional diversity in the FGF receptor multigene family. Adv Cancer 60:1-41
-
(1993)
Adv Cancer
, vol.60
, pp. 1-41
-
-
Johnson, D.E.1
Williams, L.T.2
-
12
-
-
0023481995
-
Thanatophoric dysplasia and cloverleaf skull
-
Langer LO, Yang SS, Hall JG, Sommer A, Kottamasu SR, Golabi M, Krassikof N (1987) Thanatophoric dysplasia and cloverleaf skull [review]. Am J Med Genet 3:167-179
-
(1987)
Am J Med Genet
, vol.3
, pp. 167-179
-
-
Langer, L.O.1
Yang, S.S.2
Hall, J.G.3
Sommer, A.4
Kottamasu, S.R.5
Golabi, M.6
Krassikof, N.7
-
14
-
-
0029873142
-
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3
-
Nerlich AG, Freisinger P, Bonaventure J (1996) Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. Am L Med Genet 63:155-160
-
(1996)
Am L Med Genet
, vol.63
, pp. 155-160
-
-
Nerlich, A.G.1
Freisinger, P.2
Bonaventure, J.3
-
15
-
-
0004002828
-
-
Year Book, Chicago
-
Ornoy A, Borochowitz Z, Lachman R, Rimoin DL (1988) Atlas of fetal skeletal radiology. Year Book, Chicago, pp 19-94
-
(1988)
Atlas of Fetal Skeletal Radiology
, pp. 19-94
-
-
Ornoy, A.1
Borochowitz, Z.2
Lachman, R.3
Rimoin, D.L.4
-
16
-
-
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 (1996) 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 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
-
17
-
-
0030724573
-
Suspected skeletal dysplasia: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome
-
Rahemtullah A, McGillivray B, Wilson RD (1997) Suspected skeletal dysplasia: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gynecol 177:864-869
-
(1997)
Am J Obstet Gynecol
, vol.177
, pp. 864-869
-
-
Rahemtullah, A.1
McGillivray, B.2
Wilson, R.D.3
-
18
-
-
0031725983
-
Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio
-
Ramus RM, Martin LB, Twickler DM (1998) Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio. Am J Obstet Gynecol 179:1348-1352
-
(1998)
Am J Obstet Gynecol
, vol.179
, pp. 1348-1352
-
-
Ramus, R.M.1
Martin, L.B.2
Twickler, D.M.3
-
19
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J-M, Maroteaux P, Le 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
Legeai-Mallet, L.3
Pelet, A.4
Rozet, J.-M.5
Maroteaux, P.6
Le Merrer, M.7
Munnich, A.8
-
20
-
-
0029298121
-
Stop codon FGFR-3 mutations in thanatophoric dysplasia type I
-
Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide A-L, Maroteaux P, Bonaventure J (1995) Stop codon FGFR-3 mutations in thanatophoric dysplasia type I. Nat Genet 10: 11-12
-
(1995)
Nat Genet
, vol.10
, pp. 11-12
-
-
Rousseau, F.1
Saugier, P.2
Le Merrer, M.3
Munnich, A.4
Delezoide, A.-L.5
Maroteaux, P.6
Bonaventure, J.7
-
21
-
-
0032900368
-
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
-
Sawai H, Komori S, Ida A, Henmi T, Besso T, Koyama K (1999) Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn 19:21-24
-
(1999)
Prenat Diagn
, vol.19
, pp. 21-24
-
-
Sawai, H.1
Komori, S.2
Ida, A.3
Henmi, T.4
Besso, T.5
Koyama, K.6
-
22
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR-3 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
-
23
-
-
0028860562
-
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
-
Tavormina PL, Rimoin DL, Cohn DH, Zhu YZ, Shiang R, Wasmuth JJ (1995) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 4:2175-2177
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2175-2177
-
-
Tavormina, P.L.1
Rimoin, D.L.2
Cohn, D.H.3
Zhu, Y.Z.4
Shiang, R.5
Wasmuth, J.J.6
-
24
-
-
0003933193
-
-
Mosby, St. Louis
-
Taybi H, Lachman RS (1996) Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th edn. Mosby, St. Louis, pp 939-945
-
(1996)
Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 4th Edn.
, pp. 939-945
-
-
Taybi, H.1
Lachman, R.S.2
-
25
-
-
0032539523
-
Antenatal diagnosis of lethal dysplasias
-
Tretter AE, Saunders RC, Meyers CM, Dungan JS, Grumbach K, Sun CC, Campbell AB, Wulfsberg EA (1998) Antenatal diagnosis of lethal dysplasias. Am J Med Genet 75:518-522
-
(1998)
Am J Med Genet
, vol.75
, pp. 518-522
-
-
Tretter, A.E.1
Saunders, R.C.2
Meyers, C.M.3
Dungan, J.S.4
Grumbach, K.5
Sun, C.C.6
Campbell, A.B.7
Wulfsberg, E.A.8
-
26
-
-
0031779088
-
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
-
Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 78:274-281
-
(1998)
Am J Med Genet
, vol.78
, pp. 274-281
-
-
Wilcox, W.R.1
Tavormina, P.L.2
Krakow, D.3
Kitoh, H.4
Lachman, R.S.5
Wasmuth, J.J.6
Thompson, L.M.7
Rimoin, D.L.8
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