Zobrazeno 1 - 10
of 36
pro vyhledávání: '"T Mamas"'
Publikováno v:
International Journal of Laboratory Hematology. 40:74-82
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3070d8b88b6c06e579011935171d5f07
https://doi.org/10.1111/ijlh.12823
https://doi.org/10.1111/ijlh.12823
Akademický článek
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Publikováno v:
OBM Genetics. 3:1-1
Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0301c992eabeae68a702790d256f7db
https://doi.org/10.21926/obm.genet.1903084
https://doi.org/10.21926/obm.genet.1903084
Publikováno v:
Fertility and Sterility. 94:1674-1679
Objective To overcome problems associated with the use of triplet repeat primed polymerase chain reaction (TP-PCR) in preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1). Design Clinical research study. Setting UCL Centre for P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8090b0c572967c8e2d36e6e76578de2
https://doi.org/10.1016/j.fertnstert.2009.10.050
https://doi.org/10.1016/j.fertnstert.2009.10.050
Autor:
M. Vega, M. Keltz, A. Breborowicz, F. Fiorentino, L. Rienzi, S. Bono, A. Capalbo, L. Spizzichino, E. Baroni, G. Harton, A. Biricik, F. M. Ubaldi, H. Ghevaria, T. Mamas, T. Sabhnani, U. Sarna, P. Serhal, J. D. A. Delhanty, S. Alfarawati, K. Spath, P. Colls, D. Wells, E. Fragouli, S. Morin, K. Melzer, J. Grifo, Z. Zheng, S. Munne, P. Mir, L. Rodrigo, E. Mateu, V. Peinado, M. Milan-Sanchez, N. Al-Asmar, S. Garcia-Herrero, I. Campos-Galindo, A. Mercader, M. E. Poo, C. Simon, C. Rubio
Publikováno v:
Human Reproduction. 28:i49-i51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52f48824ba8282275d6ca4ec6d2d0995
https://doi.org/10.1093/humrep/det164
https://doi.org/10.1093/humrep/det164
Publikováno v:
Fertility and sterility. 97(4)
Objective To examine the effect of mosaicism in the array comparative genomic hybridization result during preimplantation genetic screening after blastocyst biopsy. Design Experimental study. Setting University laboratory. Material(s) Epithelial cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6348ea6c9d714ea7e1548eccafbb1cbb
https://pubmed.ncbi.nlm.nih.gov/22277764
https://pubmed.ncbi.nlm.nih.gov/22277764
Autor:
T Mamas, Joy D. A. Delhanty, A Mantzouratou, Paul Serhal, A. Mania, L. Xanthopoulou, Sioban SenGupta
Publikováno v:
Reproductive biomedicine online. 22(4)
Cleavage-stage embryos often have nuclear abnormalities, one of the most common being binucleate blastomeres, which may contain two diploid or two haploid nuclei. Biopsied cells from preimplantation genetic diagnosis (PGD) and preimplantation genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1550d9f82a322ed5d62b2c693fbfd863
https://pubmed.ncbi.nlm.nih.gov/21324746
https://pubmed.ncbi.nlm.nih.gov/21324746
Autor:
Joyce C. Harper, A Doshi, Sioban SenGupta, Paul Serhal, S Dhanjal, Georgia Kakourou, T Mamas, Joy D. A. Delhanty, Karen Fordham, Sarah Gotts, Domenico M. Ranieri
Publikováno v:
Neuromuscular disorders : NMD. 18(2)
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is diffi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68159247afef6893821963a5771b210
https://pubmed.ncbi.nlm.nih.gov/18053720
https://pubmed.ncbi.nlm.nih.gov/18053720
Autor:
Paul Serhal, Joyce C. Harper, T Mamas, Karen Fordham, S Dhanjal, S Nuttall, Sarah Gotts, Natasha Saleh, Joy D. A. Delhanty, Georgia Kakourou, A Doshi, Sioban SenGupta
Publikováno v:
British Journal of Ophthalmology. 91:1090-1091
Heritable mutations in the RB1 gene cause an autosomal dominant condition resulting in retinoblastoma1,2 and an increased risk of malignancies including pineoblastoma, neuroblastoma, chondrosarcoma, rhabdomyosarcoma, glioma, leukaemia, sebaceous carc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb59e64cd2ac31f5a73dd2cabfe79ba9
https://doi.org/10.1136/bjo.2006.108597
https://doi.org/10.1136/bjo.2006.108597
Publikováno v:
Reproductive BioMedicine Online. 24:S54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f630e06fe0609f1499e2d2ab0fcc735
https://doi.org/10.1016/s1472-6483(12)60240-5
https://doi.org/10.1016/s1472-6483(12)60240-5