-
1
-
-
34547440291
-
Simultaneous preimplantation genetic diagnosis (PGD) for Tay Sachs and Gaucher disease
-
Altarescu G, Brooks B, Margalioth E, Eldar Geva T, Levy-Lahad E, Renbaum P. 2007. Simultaneous preimplantation genetic diagnosis (PGD) for Tay Sachs and Gaucher disease. Reprod Biomed Online 15: 83-88.
-
(2007)
Reprod Biomed Online
, vol.15
, pp. 83-88
-
-
Altarescu, G.1
Brooks, B.2
Margalioth, E.3
Eldar Geva, T.4
Levy-Lahad, E.5
Renbaum, P.6
-
2
-
-
39749167997
-
Successful polar body based preimplantation genetic diagnosis (PGD) for Achondroplasia
-
Altarescu G, Renbaum P, Brooks B, et al. 2008. Successful polar body based preimplantation genetic diagnosis (PGD) for Achondroplasia. Reprod Biomed Online 16: 276-282.
-
(2008)
Reprod Biomed Online
, vol.16
, pp. 276-282
-
-
Altarescu, G.1
Renbaum, P.2
Brooks, B.3
-
3
-
-
72949085329
-
Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis (PGD) in female carriers of de novo mutations
-
Altarescu G, Eldar-Geva T, Varshower I, et al. 2009. Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis (PGD) in female carriers of de novo mutations. Hum Reprod 24: 3225-3229.
-
(2009)
Hum Reprod
, vol.24
, pp. 3225-3229
-
-
Altarescu, G.1
Eldar-Geva, T.2
Varshower, I.3
-
4
-
-
84897920741
-
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome)
-
Epub ahead of print].
-
Davison JE, Hendriksz CJ, Sun Y, Davies NP, Gissen P, Peet AC. 2010. Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). J Inherit Metab Dis [Epub ahead of print].
-
(2010)
J Inherit Metab Dis
-
-
Davison, J.E.1
Hendriksz, C.J.2
Sun, Y.3
Davies, N.P.4
Gissen, P.5
Peet, A.C.6
-
5
-
-
35848937244
-
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
-
Eiges R, Urbach A, Malcov M, et al. 2007. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 1: 568-577.
-
(2007)
Cell Stem Cell
, vol.1
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
-
6
-
-
75649131512
-
Genetic manipulation of human embryonic stem cells
-
Epsztejn-Litman S, Eiges R. 2010. Genetic manipulation of human embryonic stem cells. Methods Mol Biol 584: 387-411.
-
(2010)
Methods Mol Biol
, vol.584
, pp. 387-411
-
-
Epsztejn-Litman, S.1
Eiges, R.2
-
7
-
-
79952853431
-
Treating women under 36 years old without top-quality embryos on day 2: a prospective study comparing double embryo transfer with single blastocyst transfer
-
Guerif F, Frapsauce C, Chavez C, Cadoret V, Royere D. 2011. Treating women under 36 years old without top-quality embryos on day 2: a prospective study comparing double embryo transfer with single blastocyst transfer. Hum Reprod 26: 775-781..
-
(2011)
Hum Reprod
, vol.26
, pp. 775-781
-
-
Guerif, F.1
Frapsauce, C.2
Chavez, C.3
Cadoret, V.4
Royere, D.5
-
8
-
-
0025307919
-
Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
-
Handyside AH, Kontogianni EH, Hardy K, Winston RM. 1990. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768-770.
-
(1990)
Nature
, vol.344
, pp. 768-770
-
-
Handyside, A.H.1
Kontogianni, E.H.2
Hardy, K.3
Winston, R.M.4
-
9
-
-
0000013140
-
A rare disease in two brothers
-
Hunter CA. 1917. A rare disease in two brothers. Proc R Soc Med London 10: 104-116.
-
(1917)
Proc R Soc Med London
, vol.10
, pp. 104-116
-
-
Hunter, C.A.1
-
10
-
-
0034136393
-
Differentiation of human embryonic stem cells into embryoid bodies compromising the three embryonic germ layers
-
Itskovitz-Eldor J, Schuldiner M, Karsenti D, et al. 2000. Differentiation of human embryonic stem cells into embryoid bodies compromising the three embryonic germ layers. Mol Med 6: 88-95.
-
(2000)
Mol Med
, vol.6
, pp. 88-95
-
-
Itskovitz-Eldor, J.1
Schuldiner, M.2
Karsenti, D.3
-
12
-
-
79956269619
-
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution
-
Epub ahead of print].
-
Manara R, Rampazzo A, Cananzi M, et al. 2010. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J Inherit Metab Dis [Epub ahead of print].
-
(2010)
J Inherit Metab Dis
-
-
Manara, R.1
Rampazzo, A.2
Cananzi, M.3
-
13
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
-
Martin R, Beck M, Eng C, et al. 2008. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121: e377-e386.
-
(2008)
Pediatrics
, vol.121
-
-
Martin, R.1
Beck, M.2
Eng, C.3
-
14
-
-
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
-
15
-
-
0034752278
-
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations
-
Moreira da Silva I, Froissart R, Marques dos Santos H, Caseiro C, Maire I, Bozon D. 2001. Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. Clin Genet 60: 316-318.
-
(2001)
Clin Genet
, vol.60
, pp. 316-318
-
-
Moreira da Silva, I.1
Froissart, R.2
Marques dos Santos, H.3
Caseiro, C.4
Maire, I.5
Bozon, D.6
-
16
-
-
0016910061
-
Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state
-
Neufeld EF, Liebaers I, Lim TW. 1976. Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state. Adv Exp Med Biol 68: 253-260.
-
(1976)
Adv Exp Med Biol
, vol.68
, pp. 253-260
-
-
Neufeld, E.F.1
Liebaers, I.2
Lim, T.W.3
-
17
-
-
4344698469
-
Preimplantation genetic diagnosis with HLA matching
-
Rechitsky S, Kuliev A, Tur-Kaspa I, Morris R, Verlinsky Y. 2004. Preimplantation genetic diagnosis with HLA matching. Reprod Biomed Online 9: 210-221.
-
(2004)
Reprod Biomed Online
, vol.9
, pp. 210-221
-
-
Rechitsky, S.1
Kuliev, A.2
Tur-Kaspa, I.3
Morris, R.4
Verlinsky, Y.5
-
18
-
-
24944560641
-
Multiple mutation analysis of the cystic fibrosis gene in single cells
-
Sánchez-García JF, Benet J, Gutiérrez-Mateo C, Luís Séculi J, Monrós E, Navarro J. 2005. Multiple mutation analysis of the cystic fibrosis gene in single cells. Mol Hum Reprod 11: 463-468.
-
(2005)
Mol Hum Reprod
, vol.11
, pp. 463-468
-
-
Sánchez-García, J.F.1
Benet, J.2
Gutiérrez-Mateo, C.3
Luís Séculi, J.4
Monrós, E.5
Navarro, J.6
-
19
-
-
0035929503
-
Induced neuronal differentiation of human embryonic stem cells
-
Schuldiner M, Eiges R, Eden A, et al. 2001. Induced neuronal differentiation of human embryonic stem cells. Brain Res 913: 201-205.
-
(2001)
Brain Res
, vol.913
, pp. 201-205
-
-
Schuldiner, M.1
Eiges, R.2
Eden, A.3
-
20
-
-
78649641874
-
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis
-
Sohn YB, Kim SJ, Park SW, et al. 2010. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. Am J Med Genet A 152A: 3129-3132.
-
(2010)
Am J Med Genet A
, vol.152
, pp. 3129-3132
-
-
Sohn, Y.B.1
Kim, S.J.2
Park, S.W.3
-
21
-
-
0015447601
-
Giemsa banding of meiotic chromosomes with description of a procedure for cytological preparations from solid tissues
-
Stock AD, Burnham DB, Hsu TC. 1972. Giemsa banding of meiotic chromosomes with description of a procedure for cytological preparations from solid tissues. Cytogenetics 11: 534-539.
-
(1972)
Cytogenetics
, vol.11
, pp. 534-539
-
-
Stock, A.D.1
Burnham, D.B.2
Hsu, T.C.3
-
22
-
-
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
-
23
-
-
0031664386
-
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)
-
Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE. 1998. Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch Dis Child 79: 237-241.
-
(1998)
Arch Dis Child
, vol.79
, pp. 237-241
-
-
Vafiadaki, E.1
Cooper, A.2
Heptinstall, L.E.3
Hatton, C.E.4
Thornley, M.5
Wraith, J.E.6
-
24
-
-
0031404915
-
Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body
-
Verlinsky Y, Rechitsky S, Cieslak J, et al. 1997. Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body. Biochem Mol Med 62: 182-187.
-
(1997)
Biochem Mol Med
, vol.62
, pp. 182-187
-
-
Verlinsky, Y.1
Rechitsky, S.2
Cieslak, J.3
-
25
-
-
2342622091
-
Preimplantation HLA testing
-
Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A. 2004. Preimplantation HLA testing. JAMA 291: 2079-2085.
-
(2004)
JAMA
, vol.291
, pp. 2079-2085
-
-
Verlinsky, Y.1
Rechitsky, S.2
Sharapova, T.3
Morris, R.4
Taranissi, M.5
Kuliev, A.6
-
26
-
-
52049124506
-
Initial report from the Hunter Outcome Survey
-
Wraith JE, Beck M, Giugliani R, et al. 2008a. Initial report from the Hunter Outcome Survey. Genet Med 10: 508-516.
-
(2008)
Genet Med
, vol.10
, pp. 508-516
-
-
Wraith, J.E.1
Beck, M.2
Giugliani, R.3
-
27
-
-
39149118050
-
"Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy"
-
Wraith JE, Scarpa M, Beck M, et al. 2008b. "Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy". Eur J Pediatr 167: 267-277.
-
(2008)
Eur J Pediatr
, vol.167
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
-
28
-
-
0017724070
-
Mild and severe Hunter syndrome (MPS II) within the same sibships
-
Yatziv S, Erickson RP, Epstein CJ. 1977. Mild and severe Hunter syndrome (MPS II) within the same sibships. Clin Genet 11: 319-326.
-
(1977)
Clin Genet
, vol.11
, pp. 319-326
-
-
Yatziv, S.1
Erickson, R.P.2
Epstein, C.J.3
-
29
-
-
0019990520
-
Incidence of Hunter's syndrome
-
Young ID, Harper PS. 1982. Incidence of Hunter's syndrome. Hum Genet 60: 391-392.
-
(1982)
Hum Genet
, vol.60
, pp. 391-392
-
-
Young, I.D.1
Harper, P.S.2
-
30
-
-
0020613358
-
The natural history of the severe form of Hunter's syndrome: a study based on 52 cases
-
Young ID, Harper PS. 1983. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol 25: 481-489.
-
(1983)
Dev Med Child Neurol
, vol.25
, pp. 481-489
-
-
Young, I.D.1
Harper, P.S.2
-
31
-
-
0020419764
-
A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms
-
Young ID, Harper PS, Newcombe RG, Archer IM. 1982. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet 19: 408-411.
-
(1982)
J Med Genet
, vol.19
, pp. 408-411
-
-
Young, I.D.1
Harper, P.S.2
Newcombe, R.G.3
Archer, I.M.4
-
32
-
-
70449130567
-
Vitrification of biopsied embryos at cleavage, morula and blastocyst stage
-
Zhang X, Trokoudes KM, Pavlides C. 2009. Vitrification of biopsied embryos at cleavage, morula and blastocyst stage. Reprod Biomed Online 19: 526-531.
-
(2009)
Reprod Biomed Online
, vol.19
, pp. 526-531
-
-
Zhang, X.1
Trokoudes, K.M.2
Pavlides, C.3
|