-
1
-
-
0034921796
-
Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers
-
Apessos A, Abou-Sleiman PM, Harper JC and Delhanty JD (2001). Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat. Diagn. 21: 504-511.
-
(2001)
Prenat. Diagn
, vol.21
, pp. 504-511
-
-
Apessos, A.1
Abou-Sleiman, P.M.2
Harper, J.C.3
Delhanty, J.D.4
-
2
-
-
33750211837
-
Multiple displacement amplification improves PGD for fragile X syndrome
-
Burlet P, Frydman N, Gigarel N, Kerbrat V, et al. (2006). Multiple displacement amplification improves PGD for fragile X syndrome. Mol. Hum. Reprod. 12: 647-652.
-
(2006)
Mol. Hum. Reprod
, vol.12
, pp. 647-652
-
-
Burlet, P.1
Frydman, N.2
Gigarel, N.3
Kerbrat, V.4
-
3
-
-
16944362509
-
Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative fragile X study group
-
de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, et al. (1997). Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative fragile X study group. Am. J. Hum. Genet. 61: 660-667.
-
(1997)
Am. J. Hum. Genet
, vol.61
, pp. 660-667
-
-
de Vries, B.B.1
van den Ouweland, A.M.2
Mohkamsing, S.3
Duivenvoorden, H.J.4
-
4
-
-
18344396798
-
Comprehensive human genome amplification using multiple displacement amplification
-
Dean FB, Hosono S, Fang L, Wu X, et al. (2002). Comprehensive human genome amplification using multiple displacement amplification. Proc. Natl. Acad. Sci. U. S. A. 99: 5261-5266.
-
(2002)
Proc. Natl. Acad. Sci. U. S. A
, vol.99
, pp. 5261-5266
-
-
Dean, F.B.1
Hosono, S.2
Fang, L.3
Wu, X.4
-
5
-
-
33750930661
-
Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: Clinical considerations affecting outcome
-
Grace J, El-Toukhy T, Scriven P, Ogilvie C, et al. (2006). Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome. BJOG 113: 1393-1401.
-
(2006)
BJOG
, vol.113
, pp. 1393-1401
-
-
Grace, J.1
El-Toukhy, T.2
Scriven, P.3
Ogilvie, C.4
-
6
-
-
0028231090
-
The 1993-94 genethon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, et al. (1994). The 1993-94 genethon human genetic linkage map. Nat. Genet. 7: 246-339.
-
(1994)
Nat. Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
-
7
-
-
0001966753
-
Physical and Behavioral Phenotype
-
(Hagerman RJ and Silverman AC, eds.). John Hopkins University Press, Baltimore and London
-
Hagerman RJ (1996). Physical and Behavioral Phenotype. In: Fragile X Syndrome: Diagnosis, Treatment and Research (Hagerman RJ and Silverman AC, eds.). John Hopkins University Press, Baltimore and London, 3-87.
-
(1996)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 3-87
-
-
Hagerman, R.J.1
-
8
-
-
5044247324
-
Isothermal whole genome amplification from single and small numbers of cells: A new era for preimplantation genetic diagnosis of inherited disease
-
Handyside AH, Robinson MD, Simpson RJ, Omar MB, et al. (2004). Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol. Hum. Reprod. 10: 767-772.
-
(2004)
Mol. Hum. Reprod
, vol.10
, pp. 767-772
-
-
Handyside, A.H.1
Robinson, M.D.2
Simpson, R.J.3
Omar, M.B.4
-
9
-
-
11044230538
-
Multiple displacement amplification on single cell and possible PGD applications
-
Hellani A, Coskun S, Benkhalifa M, Tbakhi A, et al. (2004). Multiple displacement amplification on single cell and possible PGD applications. Mol. Hum. Reprod. 10: 847-852.
-
(2004)
Mol. Hum. Reprod
, vol.10
, pp. 847-852
-
-
Hellani, A.1
Coskun, S.2
Benkhalifa, M.3
Tbakhi, A.4
-
10
-
-
14944358730
-
Clinical application of multiple displacement amplification in preimplantation genetic diagnosis
-
Hellani A, Coskun S, Tbakhi A and Al-Hassan S (2005). Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod. Biomed. Online 10: 376-380.
-
(2005)
Reprod. Biomed. Online
, vol.10
, pp. 376-380
-
-
Hellani, A.1
Coskun, S.2
Tbakhi, A.3
Al-Hassan, S.4
-
11
-
-
4043154186
-
Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: The Korean experience
-
Kyu LC, Hyun JJ, Mi MD, Lee HS, et al. (2004). Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat. Diagn. 24: 556-561.
-
(2004)
Prenat. Diagn
, vol.24
, pp. 556-561
-
-
Kyu, L.C.1
Hyun, J.J.2
Mi, M.D.3
Lee, H.S.4
-
12
-
-
33750244626
-
Efficacy of duplex-nested PCR and fluorescent PCR in the preimplantation genetic diagnosis for Duchenne muscular dystrophy
-
Lee HS, Choi HW, Lim CK, Park SY, et al. (2005). Efficacy of duplex-nested PCR and fluorescent PCR in the preimplantation genetic diagnosis for Duchenne muscular dystrophy. Korean J. Fertil. Steril. 32: 17-26.
-
(2005)
Korean J. Fertil. Steril
, vol.32
, pp. 17-26
-
-
Lee, H.S.1
Choi, H.W.2
Lim, C.K.3
Park, S.Y.4
-
13
-
-
33750238436
-
Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis
-
Lee HS, Choi HW, Lim CK, Koong MK, et al. (2006). Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis. J. Korean Med. Sci. 21: 794-799.
-
(2006)
J. Korean Med. Sci
, vol.21
, pp. 794-799
-
-
Lee, H.S.1
Choi, H.W.2
Lim, C.K.3
Koong, M.K.4
-
14
-
-
34447114505
-
Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: A case report
-
Lee HS, Jun JH, Choi HW, Lim CK, et al. (2007). Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report. J. Korean Med. Sci. 22: 572-576.
-
(2007)
J. Korean Med. Sci
, vol.22
, pp. 572-576
-
-
Lee, H.S.1
Jun, J.H.2
Choi, H.W.3
Lim, C.K.4
-
15
-
-
35648942732
-
Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification
-
Lledo B, Bernabeu R, Ten J, Galan FM, et al. (2007). Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification. Fertil. Steril. 88: 1327-1333.
-
(2007)
Fertil. Steril
, vol.88
, pp. 1327-1333
-
-
Lledo, B.1
Bernabeu, R.2
Ten, J.3
Galan, F.M.4
-
16
-
-
0035697478
-
The fragile X gene and its function
-
Oostra BA and Chiurazzi P (2001). The fragile X gene and its function. Clin. Genet. 60: 399-408.
-
(2001)
Clin. Genet
, vol.60
, pp. 399-408
-
-
Oostra, B.A.1
Chiurazzi, P.2
-
17
-
-
0026316183
-
Fragile X syndrome: Genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site
-
Richards RI, Holman K, Kozman H, Kremer E, et al. (1991). Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J. Med. Genet. 28: 818-823.
-
(1991)
J. Med. Genet
, vol.28
, pp. 818-823
-
-
Richards, R.I.1
Holman, K.2
Kozman, H.3
Kremer, E.4
-
18
-
-
0033402877
-
Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG
-
Sermon K, Seneca S, Vanderfaeillie A, Lissens W, et al. (1999). Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. Prenat. Diagn. 19: 1223-1230.
-
(1999)
Prenat. Diagn
, vol.19
, pp. 1223-1230
-
-
Sermon, K.1
Seneca, S.2
Vanderfaeillie, A.3
Lissens, W.4
-
19
-
-
0026736251
-
Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
-
Telenius H, Carter NP, Bebb CE, Nordenskjold M, et al. (1992). Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13: 718-725.
-
(1992)
Genomics
, vol.13
, pp. 718-725
-
-
Telenius, H.1
Carter, N.P.2
Bebb, C.E.3
Nordenskjold, M.4
-
21
-
-
0026755807
-
Whole genome amplification from a single cell: Implications for genetic analysis
-
Zhang L, Cui X, Schmitt K, Hubert R, et al. (1992). Whole genome amplification from a single cell: implications for genetic analysis. Proc. Natl. Acad. Sci. U. S. A. 89: 5847-5851.
-
(1992)
Proc. Natl. Acad. Sci. U. S. A
, vol.89
, pp. 5847-5851
-
-
Zhang, L.1
Cui, X.2
Schmitt, K.3
Hubert, R.4
|