-
1
-
-
0025921769
-
Chromosome abnormalities found among 34910 newborn children: Results from 13-year incidence study in Arhus, Denmark
-
2037286 10.1007/BF01213097 1:STN:280:DyaK3M3ksVaruw%3D%3D
-
J Nielsen M Wohlert 1991 Chromosome abnormalities found among 34910 newborn children: results from 13-year incidence study in Arhus, Denmark Hum Genet 87 81 3 2037286 10.1007/BF01213097 1:STN:280:DyaK3M3ksVaruw%3D%3D
-
(1991)
Hum Genet
, vol.87
, pp. 81-3
-
-
Nielsen, J.1
Wohlert, M.2
-
2
-
-
0029053229
-
Human ribosomal RNA gene cluster: Identification of the proximal end containing a novel tandem repeat sequence
-
7607675 10.1016/0888-7543(95)80170-Q 1:CAS:528:DyaK2MXltlOitrg%3D
-
K Sakai T Ohta S Minoshima J Kudoh Y Wang PJ de Jong, et al. 1995 Human ribosomal RNA gene cluster: identification of the proximal end containing a novel tandem repeat sequence Genomics 26 3 521 6 7607675 10.1016/0888-7543(95) 80170-Q 1:CAS:528:DyaK2MXltlOitrg%3D
-
(1995)
Genomics
, vol.26
, Issue.3
, pp. 521-6
-
-
Sakai, K.1
Ohta, T.2
Minoshima, S.3
Kudoh, J.4
Wang, Y.5
De Jong, P.J.6
-
3
-
-
0035157468
-
Robertsonian translocations - Reproductive risks and indications for preimplantation genetic diagnosis
-
PN Scriven FA Flinter PR Braude CM Ogilvie 2001 Robertsonian translocations-reproductive risks and indications for preimplantation genetic diagnosis Hum Reprod 16 2267 73 11679502 10.1093/humrep/16.11.2267 1:STN:280:DC%2BD3MnmvFersQ%3D%3D (Pubitemid 33054120)
-
(2001)
Human Reproduction
, vol.16
, Issue.11
, pp. 2267-2273
-
-
Scriven, P.N.1
Flinter, F.A.2
Braude, P.R.3
Ogilvie, C.M.4
-
5
-
-
0021229266
-
A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses
-
A Boue P Gallano 1984 A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses Prenat Diagn 4 45 67 6463033 10.1002/pd.1970040705 (Pubitemid 14058140)
-
(1984)
Prenatal Diagnosis
, vol.4
, Issue.SPEC. ISSUE
, pp. 45-67
-
-
Boue, A.1
Gallano, P.2
-
6
-
-
0030893234
-
Paternal uniparental disomy for chromosome 14: A case report and review
-
DOI 10.1002/(SICI)1096-8628(19970502) 70:1<74::AID-AJMG14>3.0.CO;2- U
-
PD Cotter S Kaffe LD McCurdy M Jhaveri JP Willner K Hirschhorn 1997 Paternal uniparental disomy for chromosome 14: a case report and review Am J Med Genet 70 74 9 9129745 10.1002/(SICI)1096-8628(19970502)70:1<74::AID- AJMG14>3.0.CO;2-U 1:STN:280:DyaK2s3nsF2rtg%3D%3D (Pubitemid 27183880)
-
(1997)
American Journal of Medical Genetics
, vol.70
, Issue.1
, pp. 74-79
-
-
Cotter, P.D.1
Kaffe, S.2
McCurdy, L.D.3
Jhaveri, M.4
Willner, J.P.5
Hirschhorn, K.6
-
7
-
-
10844293482
-
Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations
-
DOI 10.1002/pd.961
-
A Ruggeri F Dulcetti M Miozzo FR Grati B Grimi S Bellato, et al. 2004 Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations Prenat Diagn 24 997 1000 15614836 10.1002/pd.961 1:CAS:528:DC%2BD2MXmvVWjsQ%3D%3D (Pubitemid 39664713)
-
(2004)
Prenatal Diagnosis
, vol.24
, Issue.12
, pp. 997-1000
-
-
Ruggeri, A.1
Dulcetti, F.2
Miozzo, M.3
Grati, F.R.4
Grimi, B.5
Bellato, S.6
Natacci, F.7
Maggi, F.8
Simoni, G.9
-
8
-
-
33646041295
-
Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation
-
16491515 10.1002/pd.1384
-
LG Shaffer 2006 Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation Prenat Diagn 26 303 7 16491515 10.1002/pd.1384
-
(2006)
Prenat Diagn
, vol.26
, pp. 303-7
-
-
Shaffer, L.G.1
-
9
-
-
0030016132
-
Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty
-
DJ Tomkins AF Roux J Waye VC Freeman DW Cox DT Whelan 1996 Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty Eur J Hum Genet 4 153 9 8840115 1:STN:280:DyaK28vjslequg%3D%3D (Pubitemid 26232486)
-
(1996)
European Journal of Human Genetics
, vol.4
, Issue.3
, pp. 153-159
-
-
Tomkins, D.J.1
-
10
-
-
0030893234
-
Paternal uniparental disomy for chromosome 14: A case report and review
-
DOI 10.1002/(SICI)1096-8628(19970502) 70:1<74::AID-AJMG14>3.0.CO;2- U
-
PD Cotter S Kaffe LD McCurdy M Jhaveri JP Willner K Hirschhorn 1997 Paternal uniparental disomy for chromosome 14: a case report and review Am J Med Genet 70 74 9 9129745 10.1002/(SICI)1096-8628(19970502)70:1<74::AID- AJMG14>3.0.CO;2-U 1:STN:280:DyaK2s3nsF2rtg%3D%3D (Pubitemid 27183880)
-
(1997)
American Journal of Medical Genetics
, vol.70
, Issue.1
, pp. 74-79
-
-
Cotter, P.D.1
Kaffe, S.2
McCurdy, L.D.3
Jhaveri, M.4
Willner, J.P.5
Hirschhorn, K.6
-
11
-
-
18444391186
-
Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations
-
H Malmgren S Sahlén J Inzunza M Aho B Rosenlund M Fridström, et al. 2002 Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations Mol Hum Reprod 8 502 10 11994548 10.1093/molehr/8.5.502 1:CAS:528:DC%2BD38XkvVGqurc%3D (Pubitemid 34567929)
-
(2002)
Molecular Human Reproduction
, vol.8
, Issue.5
, pp. 502-510
-
-
Malmgren, H.1
Sahlen, S.2
Inzunza, J.3
Aho, M.4
Rosenlund, B.5
Fridstrom, M.6
Hovatta, O.7
Ahrlund-Richter, L.8
Nordenskjold, M.9
Blennow, E.10
-
12
-
-
4043178128
-
Preimplantalion genetic diagnosis for carriers of reciprocal translocations
-
15213418
-
PN Scriven 2003 Preimplantalion genetic diagnosis for carriers of reciprocal translocations J Assoc Genet Technol 29 49 59 15213418
-
(2003)
J Assoc Genet Technol
, vol.29
, pp. 49-59
-
-
Scriven, P.N.1
-
13
-
-
0035157468
-
Robertsonian translocations - Reproductive risks and indications for preimplantation genetic diagnosis
-
PN Scriven FA Flinter PR Braude CM Ogilvie 2001 Robertsonian translocations-reproductive risks and indications for preimplantation genetic diagnosis Hum Reprod 16 2267 73 11679502 10.1093/humrep/16.11.2267 1:STN:280:DC%2BD3MnmvFersQ%3D%3D (Pubitemid 33054120)
-
(2001)
Human Reproduction
, vol.16
, Issue.11
, pp. 2267-2273
-
-
Scriven, P.N.1
Flinter, F.A.2
Braude, P.R.3
Ogilvie, C.M.4
-
14
-
-
0034075712
-
Outcome of preimplantation genetic diagnosis of translocations
-
DOI 10.1016/S0015-0282(00)00495-7, PII S0015028200004957
-
S Munné M Sandalinas T Escudero J Fung L Gianaroli J Cohen 2000 Outcome of preimplantation genetic diagnosis of translocations Fertil Steril 73 1209 18 10856485 10.1016/S0015-0282(00)00495-7 (Pubitemid 30336771)
-
(2000)
Fertility and Sterility
, vol.73
, Issue.6
, pp. 1209-1218
-
-
Munne, S.1
Sandalinas, M.2
Escudero, T.3
Fung, J.4
Gianaroli, L.5
Cohen, J.6
-
15
-
-
0031716088
-
Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21
-
DOI 10.1093/molehr/4.9.863
-
S Munné C Maquez C Magli, et al. 1998 Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 12, 16, 18 and 21 Mol Hum Reprod 4 863 70 9783846 10.1093/molehr/4.9.863 (Pubitemid 28430649)
-
(1998)
Molecular Human Reproduction
, vol.4
, Issue.9
, pp. 863-870
-
-
Munne, S.1
Marquez, C.2
Magli, C.3
Morton, P.4
Morrison, L.5
-
16
-
-
0031716088
-
Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21
-
DOI 10.1093/molehr/4.9.863
-
S Munné C Márquez C Magli P Morton L Morrison 1998 Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21 Mol Hum Reprod 4 863 70 9783846 10.1093/molehr/4.9.863 (Pubitemid 28430649)
-
(1998)
Molecular Human Reproduction
, vol.4
, Issue.9
, pp. 863-870
-
-
Munne, S.1
Marquez, C.2
Magli, C.3
Morton, P.4
Morrison, L.5
-
17
-
-
33947683902
-
Distribution of the D15Z1 copy number polymorphism
-
DOI 10.1038/sj.ejhg.5201780, PII 5201780
-
AE Cockwell PA Jacobs JA Crolla 2007 Distribution of the D15Z1 copy number polymorphism Eur J Hum Genet 15 441 5 17311084 10.1038/sj.ejhg.5201780 1:CAS:528:DC%2BD2sXjtlWnsr8%3D (Pubitemid 46499173)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.4
, pp. 441-445
-
-
Cockwell, A.E.1
Jacobs, P.A.2
Crolla, J.A.3
-
18
-
-
0036835854
-
Nuclear transfer for full karyotyping and preimplantation diagnosis for translocations
-
12470530 10.1016/S1472-6483(10)61836-6
-
Y Verlinsky J Cieslak S Evsikov V Galat A Kuliev 2002 Nuclear transfer for full karyotyping and preimplantation diagnosis for translocations Reprod Biomed Online 5 300 5 12470530 10.1016/S1472-6483(10)61836-6
-
(2002)
Reprod Biomed Online
, vol.5
, pp. 300-5
-
-
Verlinsky, Y.1
Cieslak, J.2
Evsikov, S.3
Galat, V.4
Kuliev, A.5
-
19
-
-
34247237758
-
The clinical application of whole chromosome painting probes in preimplantation genetic diagnosis for translocation carriers
-
XL Ren YW Xu GL Zhuang CQ Zhou Y Liu JP Ou, et al. 2007 The clinical application of whole chromosome painting probes in preimplantation genetic diagnosis for translocation carriers Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24 140 3 17407068 (Pubitemid 46624784)
-
(2007)
Chinese Journal of Medical Genetics
, vol.24
, Issue.2
, pp. 140-143
-
-
Ren, X.-L.1
Xu, Y.-W.2
Zhuang, G.-L.3
Zhou, C.-Q.4
Liu, Y.5
Ou, J.-P.6
Li, S.-P.7
-
20
-
-
0033695670
-
Case-specific, breakpoint-spanning DNA probes for analysis of single interphase cells
-
11142758 10.1089/10906570050501498 1:CAS:528:DC%2BD3cXovVKjtL0%3D
-
RA Lersch J Fung S Munné RA Pedersen HU Weier 2000 Case-specific, breakpoint-spanning DNA probes for analysis of single interphase cells Genet Test 4 273 8 11142758 10.1089/10906570050501498 1:CAS:528:DC%2BD3cXovVKjtL0%3D
-
(2000)
Genet Test
, vol.4
, pp. 273-8
-
-
Lersch, R.A.1
Fung, J.2
Munné, S.3
Pedersen, R.A.4
Weier, H.U.5
-
21
-
-
78650176238
-
Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles
-
(Epub ahead of print) 2010 Apr 4
-
Kuliev A, Janzen JC, Zlatopolsky Z, Kirillova I, Ilkevitch Y, Verlinsky Y. Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles. Reprod Biomed Online. (Epub ahead of print) 2010 Apr 4
-
Reprod Biomed Online
-
-
Kuliev, A.1
Janzen, J.C.2
Zlatopolsky, Z.3
Kirillova, I.4
Ilkevitch, Y.5
Verlinsky, Y.6
-
22
-
-
67651100796
-
ESHRE PGD Consortium data collection IX: Cycles from January to December 2006 with pregnancy follow-up to October 2007
-
19403563 10.1093/humrep/dep059 1:STN:280:DC%2BD1MvosVSlsA%3D%3D
-
V Goossens G Harton C Moutou J Traeger-Synodinos M Van Rij JC Harper 2009 ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007 Hum Reprod 24 1786 810 19403563 10.1093/humrep/dep059 1:STN:280:DC%2BD1MvosVSlsA%3D%3D
-
(2009)
Hum Reprod
, vol.24
, pp. 1786-810
-
-
Goossens, V.1
Harton, G.2
Moutou, C.3
Traeger-Synodinos, J.4
Van Rij, M.5
Harper, J.C.6
-
23
-
-
4344636975
-
Isothermal multiple displacement amplification: A highly reliable approach for generating unlimited high molecular weight genomic DNA from clinical specimens
-
R Luthra 2004 Isothermal multiple displacement amplification a highly reliable approach for generating unlimited high molecular weight genomic DNA from clinical specimens J Mol Diagn 6 236 42 15269301 10.1016/S1525-1578(10) 60516-8 1:CAS:528:DC%2BD2cXmvVWru7w%3D (Pubitemid 39136652)
-
(2004)
Journal of Molecular Diagnostics
, vol.6
, Issue.3
, pp. 236-242
-
-
Luthra, R.1
Medeiros, L.J.2
-
24
-
-
33745935434
-
Proof of principle and first cases using preimplantation genetic haplotyping - A paradigm shift for embryo diagnosis
-
10.1016/S1472-6483(10)62024-X
-
PJ Renwick J Trussler E Ostad-Saffari H Fassihi C Black P Braude, et al. 2006 Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis Reprod Biomed Online 13 10 119 10.1016/S1472-6483(10)62024-X
-
(2006)
Reprod Biomed Online
, vol.13
, pp. 10-119
-
-
Renwick, P.J.1
Trussler, J.2
Ostad-Saffari, E.3
Fassihi, H.4
Black, C.5
Braude, P.6
-
25
-
-
77952046831
-
Advance molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers
-
20172975 10.1093/molehr/gaq013 1:CAS:528:DC%2BC3cXlt1Gnsrg%3D
-
MV Traversa L Carey D Leigh 2010 Advance molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers Mol Hum Reprod 16 329 37 20172975 10.1093/molehr/gaq013 1:CAS:528:DC%2BC3cXlt1Gnsrg%3D
-
(2010)
Mol Hum Reprod
, vol.16
, pp. 329-37
-
-
Traversa, M.V.1
Carey, L.2
Leigh, D.3
|