-
2
-
-
13044316569
-
Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects
-
Blake D, Tan SL, Ao A. 1999. Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects. Mol Hum Reprod 5: 1166-1175.
-
(1999)
Mol Hum Reprod
, vol.5
, pp. 1166-1175
-
-
Blake, D.1
Tan, S.L.2
Ao, A.3
-
3
-
-
0034848136
-
The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application
-
Dean NL, Tan SL, Ao A. 2001. The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application. Mol Hum Reprod 7: 895-901.
-
(2001)
Mol Hum Reprod
, vol.7
, pp. 895-901
-
-
Dean, N.L.1
Tan, S.L.2
Ao, A.3
-
4
-
-
0028059646
-
Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients
-
Deleuze JF, Hazan J, Dhorne S, Weissenbach J, Hadchouel M. 1994. Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients. Eur J Hum Genet 2: 185-190.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 185-190
-
-
Deleuze, J.F.1
Hazan, J.2
Dhorne, S.3
Weissenbach, J.4
Hadchouel, M.5
-
5
-
-
0026713048
-
Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
-
Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. 1992. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327: 905-909.
-
(1992)
N Engl J Med
, vol.327
, pp. 905-909
-
-
Handyside, A.H.1
Lesko, J.G.2
Tarin, J.J.3
Winston, R.M.4
Hughes, M.R.5
-
6
-
-
18444405832
-
Preimplantation genetic diagnosis for single gene disorders: Experience with five single gene disorders
-
Harper JC, Wells D, Piyamongkol W, et al. 2002. Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. Prenat Diagn 22: 525-533.
-
(2002)
Prenat Diagn
, vol.22
, pp. 525-533
-
-
Harper, J.C.1
Wells, D.2
Piyamongkol, W.3
-
7
-
-
29144459963
-
ESHRE PGD Consortium data collection V: Cycles from January to December 2002 with pregnancy follow-up to October 2003
-
Harper JC, Boelaert K, Geraedts J, et al. 2006. ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod 21: 3-21.
-
(2006)
Hum Reprod
, vol.21
, pp. 3-21
-
-
Harper, J.C.1
Boelaert, K.2
Geraedts, J.3
-
8
-
-
0029902080
-
Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)
-
Li PH, Shu SG, Yang CH, et al. 1996. Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). Am J Med Genet 63: 537-541.
-
(1996)
Am J Med Genet
, vol.63
, pp. 537-541
-
-
Li, P.H.1
Shu, S.G.2
Yang, C.H.3
-
9
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li L, Krantz ID, Deng Y, et al. 1997. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16: 243-251.
-
(1997)
Nat Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
-
10
-
-
0037383967
-
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage
-
Lu F, Morrissette JJ, Spinner NB. 2003. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am J Hum Genet 72: 1065-1070.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1065-1070
-
-
Lu, F.1
Morrissette, J.J.2
Spinner, N.B.3
-
11
-
-
2442598189
-
The combination of polar body and embryo biopsy does not affect embryo viability
-
Magli MC, Gianaroli L, Ferraretti AP, et al. 2004. The combination of polar body and embryo biopsy does not affect embryo viability. Hum Reprod 19: 1163-1169.
-
(2004)
Hum Reprod
, vol.19
, pp. 1163-1169
-
-
Magli, M.C.1
Gianaroli, L.2
Ferraretti, A.P.3
-
12
-
-
17844367601
-
Orthotopic liver transplantation for Alagille syndrome
-
Maldini G, Torri E, Lucianetti A, et al. 2005. Orthotopic liver transplantation for Alagille syndrome. Transplant Proc 37: 1174-1176.
-
(2005)
Transplant Proc
, vol.37
, pp. 1174-1176
-
-
Maldini, G.1
Torri, E.2
Lucianetti, A.3
-
13
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
14
-
-
0023636637
-
The Alagille syndrome (arteriohepatic dysplasia)
-
Mueller RF. 1987. The Alagille syndrome (arteriohepatic dysplasia). J Med Genet 24: 621-626.
-
(1987)
J Med Genet
, vol.24
, pp. 621-626
-
-
Mueller, R.F.1
-
15
-
-
0021341222
-
Arteriohepatic dysplasia: Phenotypic features and family studies
-
Mueller RF, Pagon RA, Pepin MG, et al. 1984. Arteriohepatic dysplasia: phenotypic features and family studies. Clin Genet 25: 323-331.
-
(1984)
Clin Genet
, vol.25
, pp. 323-331
-
-
Mueller, R.F.1
Pagon, R.A.2
Pepin, M.G.3
-
17
-
-
0019187730
-
Arteriohepatic dysplasia: Radiologic features of a new syndrome
-
Rosenfield NS, Kelley MJ, Jensen PS, et al. 1980. Arteriohepatic dysplasia: radiologic features of a new syndrome. AJR Am J Roentgenol 135: 1217-1223.
-
(1980)
AJR Am J Roentgenol
, vol.135
, pp. 1217-1223
-
-
Rosenfield, N.S.1
Kelley, M.J.2
Jensen, P.S.3
-
19
-
-
0034919617
-
A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis
-
Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH. 2001. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn 21: 490-497.
-
(2001)
Prenat Diagn
, vol.21
, pp. 490-497
-
-
Thornhill, A.R.1
McGrath, J.A.2
Eady, R.A.3
Braude, P.R.4
Handyside, A.H.5
-
20
-
-
19944432386
-
ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'
-
Thornhill AR, de Die-Smulders CE, Geraedts JP, et al. 2005. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 20: 35-48.
-
(2005)
Hum Reprod
, vol.20
, pp. 35-48
-
-
Thornhill, A.R.1
de Die-Smulders, C.E.2
Geraedts, J.P.3
-
22
-
-
0141627570
-
Current status of preimplantation diagnosis for single gene disorders
-
Verlinsky Y, Kuliev A. 2003. Current status of preimplantation diagnosis for single gene disorders. Reprod Biomed Online 7: 145-150.
-
(2003)
Reprod Biomed Online
, vol.7
, pp. 145-150
-
-
Verlinsky, Y.1
Kuliev, A.2
-
24
-
-
3242796599
-
Over a decade of experience with preimplantation genetic diagnosis: A multicenter report
-
Verlinsky Y, Cohen J, Munne S, et al. 2004a. Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. Fertil Steril 82: 292-294.
-
(2004)
Fertil Steril
, vol.82
, pp. 292-294
-
-
Verlinsky, Y.1
Cohen, J.2
Munne, S.3
-
26
-
-
2942575921
-
Advances in preimplantation genetic diagnosis
-
Wells D. 2004. Advances in preimplantation genetic diagnosis. Eur J Obstet Gynecol Reprod Biol 115(Suppl. 1): S97-101.
-
(2004)
Eur J Obstet Gynecol Reprod Biol
, vol.115
, Issue.SUPPL. 1
-
-
Wells, D.1
-
27
-
-
0031705770
-
Mutational analysis of the Jagged 1 gene in Alagille syndrome families
-
Yuan ZR, Kohsaka T, Ikegaya T, et al. 1998. Mutational analysis of the Jagged 1 gene in Alagille syndrome families. Hum Mol Genet 7: 1363-1369.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1363-1369
-
-
Yuan, Z.R.1
Kohsaka, T.2
Ikegaya, T.3
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