-
1
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
DOI 10.1016/0092-8674(94)90302-6
-
Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78:335-42. (Pubitemid 24241100)
-
(1994)
Cell
, vol.78
, Issue.2
, 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
-
2
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations of FGFR3
-
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995;56:368-73.
-
(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
-
3
-
-
0030021411
-
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, et al. Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. Horm Res. 1996;45:108-10. (Pubitemid 26034772)
-
(1996)
Hormone Research
, vol.45
, Issue.1-2
, pp. 108-110
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
Pelet, A.4
Rozet, J.-M.5
Maroteaux, P.6
Le, M.M.7
Munnich, A.8
-
4
-
-
72349083206
-
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: A 9-year experience: Prenatal diagnosis in FGFR3 gene
-
Trujillo-Tiebas MJ, Fenollar-Cortés M, Lorda-Sánchez I, Díaz- Recasens J, Carrillo Redondo A, Ramos-Corrales C, et al. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: prenatal diagnosis in FGFR3 gene. J Assist Reprod Genet. 2009;26:455-60.
-
(2009)
J Assist Reprod Genet
, vol.26
, pp. 455-460
-
-
Trujillo-Tiebas, M.J.1
Fenollar-Cortés, M.2
Lorda-Sánchez, I.3
Díaz-Recasens, J.4
Carrillo Redondo, A.5
Ramos-Corrales, C.6
-
5
-
-
0034734711
-
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
-
Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000;356:1170.
-
(2000)
Lancet
, vol.356
, pp. 1170
-
-
Saito, H.1
Sekizawa, A.2
Morimoto, T.3
Suzuki, M.4
Yanaihara, T.5
-
6
-
-
9644273981
-
Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma - Case report
-
DOI 10.1002/pd.1030
-
Li Y, Holzgreve W, Page-Christiaens GC, Gille JJ, Hahn S. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma-case report. Prenat Diagn. 2004;24:896-8. (Pubitemid 39576805)
-
(2004)
Prenatal Diagnosis
, vol.24
, Issue.11
, pp. 896-898
-
-
Li, Y.1
Holzgreve, W.2
Page-Christiaens, G.C.M.L.3
Gille, J.J.P.4
Hahn, S.5
-
7
-
-
33846449071
-
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay
-
DOI 10.1002/pd.1608
-
Li Y, Page-Christiaens GC, Gille JJ, Holzgreve W, Hahn S. Noninvasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn. 2007;27:11-7. (Pubitemid 46144334)
-
(2007)
Prenatal Diagnosis
, vol.27
, Issue.1
, pp. 11-17
-
-
Li, Y.1
Page-Christiaens, G.C.M.L.2
Gille, J.J.P.3
Holzgreve, W.4
Hahn, S.5
-
8
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
DOI 10.1016/S0140-6736(97)02174-0
-
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485-7. (Pubitemid 27343304)
-
(1997)
Lancet
, vol.350
, Issue.9076
, pp. 485-487
-
-
Dennis, L.Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
Redman, C.W.G.6
Wainscoat, J.S.7
-
9
-
-
0037190608
-
Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
-
DOI 10.1016/S0140-6736(02)11086-5
-
Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet. 2002;360:998-1000. (Pubitemid 35284114)
-
(2002)
Lancet
, vol.360
, Issue.9338
, pp. 998-1000
-
-
Chiu, R.W.K.1
Lau, T.K.2
Leung, T.N.3
Chow, K.C.K.4
Chui, D.H.K.5
Dennis, L.Y.M.6
-
10
-
-
1642574222
-
Size Distributions of Maternal and Fetal DNA in Maternal Plasma
-
DOI 10.1373/clinchem.2003.024893
-
Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004;50:88-92. (Pubitemid 38125703)
-
(2004)
Clinical Chemistry
, vol.50
, Issue.1
, pp. 88-92
-
-
Chan, K.C.A.1
Zhang, J.2
Hui, A.B.Y.3
Wong, N.4
Lau, T.K.5
Leung, T.N.6
Lo, K.-W.7
Huang, D.W.S.8
Lo, Y.M.D.9
-
11
-
-
0346458745
-
Earliest gestational age for fetal sexing in cell-free maternal plasma
-
DOI 10.1002/pd.750
-
Rijnders RJ, Van Der Luijt RB, Peters ED,Goeree JK,VanDer Schoot CE, Ploos Van Amstel JK, et al. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn. 2003;23:1042-4. (Pubitemid 38084143)
-
(2003)
Prenatal Diagnosis
, vol.23
, Issue.13
, pp. 1042-1044
-
-
Rijnders, R.J.P.1
Van Der, L.R.B.2
Peters, E.D.J.3
Goeree, J.K.4
Van Der, S.C.E.5
Ploos, V.A.J.K.6
Christiaens, G.C.M.L.7
-
12
-
-
28544450725
-
Reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women
-
DOI 10.1002/pd.1248
-
Clausen FB, Krog GR, Rieneck K, Nielsen LK, Lundquist R, Finning K, et al. Reliable test for prenatal prediction of fetal RhD type using plasma from RhD negative women. Prenat Diagn. 2005;25:1040-4. (Pubitemid 41745684)
-
(2005)
Prenatal Diagnosis
, vol.25
, Issue.11
, pp. 1040-1044
-
-
Clausen, F.B.1
Krog, G.R.2
Rieneck, K.3
Nielsen, L.K.4
Lundquist, R.5
Finning, K.6
Dickmeiss, E.7
Hedegaard, M.8
Dziegiel, M.H.9
-
13
-
-
34548757303
-
Workshop report on the extraction of foetal DNA from maternal plasma
-
DOI 10.1002/pd.1783
-
Legler TJ, Liu Z, Mavrou A, Finning K, Hromadnikova I, Galbiati S, et al. Workshop report on the extraction of foetal DNA from maternal plasma. Prenat Diagn. 2007;27:824-9. (Pubitemid 47425400)
-
(2007)
Prenatal Diagnosis
, vol.27
, Issue.9
, pp. 824-829
-
-
Legler, T.J.1
Liu, Z.2
Mavrou, A.3
Finning, K.4
Hromadnikova, I.5
Galbiati, S.6
Meaney, C.7
Hulten, M.A.8
Crea, F.9
Olsson, M.L.10
Maddocks, D.G.11
Huang, D.12
Fisher, S.A.13
Sprenger-Haussels, M.14
Soussan, A.A.15
Van Der, S.C.E.16
-
14
-
-
0034789823
-
Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
-
Cirigliano V, Ejarque M, Cañadas MP, Lloveras E, Plaja A, Perez MM, et al. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod. 2001;7:1001-6. (Pubitemid 32952183)
-
(2001)
Molecular Human Reproduction
, vol.7
, Issue.10
, pp. 1001-1006
-
-
Cirigliano, V.1
Ejarque, M.2
Canadas, M.P.3
Lloveras, E.4
Plaja, A.5
Del, M.P.M.6
Fuster, C.7
Egozcue, J.8
-
15
-
-
0032904353
-
Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: First application on 247 chorionic villus samples
-
Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet. 1999;36:300-3. (Pubitemid 29161062)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.4
, pp. 300-303
-
-
Pertl, B.1
Kopp, S.2
Kroisel, P.M.3
Tului, L.4
Brambati, B.5
Adinolfi, M.6
-
16
-
-
0033841101
-
Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk
-
Schmidt W, Jenderny J, Hecher K, Hackelöer BJ, Kerber S, Kochhan L, et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod. 2000;6:855-60.
-
(2000)
Mol Hum Reprod
, vol.6
, pp. 855-860
-
-
Schmidt, W.1
Jenderny, J.2
Hecher, K.3
Hackelöer, B.J.4
Kerber, S.5
Kochhan, L.6
-
17
-
-
20044379214
-
Application of fetal DNA detection in maternal plasma: A prenatal diagnosis unit experience
-
DOI 10.1369/jhc.4A6400.2005
-
González-González C, Garcia-Hoyos M, Trujillo-Tiebas MJ, Lorda-Sanchez I, de Alba MR, Infantes F, et al. Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience. J Histochem Cytochem. 2005;53:307-14. (Pubitemid 40344063)
-
(2005)
Journal of Histochemistry and Cytochemistry
, vol.53
, Issue.3
, pp. 307-314
-
-
Gonzalez-Gonzalez, C.1
Garcia-Hoyos, M.2
Trujillo-Tiebas, M.J.3
Lorda-Sanchez, I.4
Rodriguez, D.A.M.5
Infantes, F.6
Gallego, J.7
Diaz-Recasens, J.8
Ayuso, C.9
Ramos, C.10
-
18
-
-
55549147876
-
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
-
González-González MC, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, et al. Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease. J Assist Reprod Genet. 2008;25:477-81.
-
(2008)
J Assist Reprod Genet
, vol.25
, pp. 477-481
-
-
González-González, M.C.1
Garcia-Hoyos, M.2
Trujillo-Tiebas, M.J.3
Bustamante Aragonés, A.4
Rodriguez De Alba, M.5
Diego Alvarez, D.6
|