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PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.
Genes (Basel). 2023 Dec 19;15(1):6. doi: 10.3390/genes15010006. PMID: 38275588
Calosci D, Passaglia L, Gabbiato I, Cartisano F, Affuso R, Sorrentino U, Zuccarello D.
Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes.
Genes (Basel). 2023 Nov; 14(11): 2069. doi:10.3390/genes14112069. PMID: 38003012
Giuliano R; Maione A, Vallefuoco A, Sorrentino U, Zuccarello D.
Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.
Genes (Basel). 2023 Nov 17;14(11):2095. doi: 10.3390/genes14112095. PMID: 38003038
ESHRE Working Group on Chromosomal Mosaicism; De Rycke M, Capalbo A, Coonen E, Coticchio G, Fiorentino F, Goossens V, Mcheik S, Rubio C, Sermon K, Sfontouris I, Spits C, Vermeesch JR, Vermeulen N, Wells D, Zambelli F, Kakourou G.
ESHRE survey results and good practice recommendations on managing chromosomal mosaicism.
Hum Reprod Open. 2022 Nov 7;2022(4):hoac044. doi: 10.1093/hropen/hoac044. PMID: 36349144; PMCID: PMC9637425.
Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR.
On the reproductive capabilities of aneuploid human preimplantation embryos.
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Ovarian Stimulation in Assisted Reproductive Technology Cycles for Varied Patient Profiles: An Indian Perspective.
J Hum Reprod Sci. 2022 Apr-Jun;15(2):112-125. doi: 10.4103/jhrs.jhrs_59_22. Epub 2022 Jun 30. PMID: 35928474; PMCID: PMC9345274.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C.
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Am J Hum Genet. 2021 Dec 2;108(12):2238-2247. doi: 10.1016/j.ajhg.2021.11.002. Epub 2021 Nov 18. PMID: 34798051; PMCID: PMC8715143.
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Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S.
Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation.
Cochrane Database Syst Rev. 2020 Sep 8;9(9):CD005291. doi: 10.1002/14651858.CD005291.pub3. PMID: 32898291; PMCID: PMC8094272.
De Rycke M, Berckmoes V.
Preimplantation Genetic Testing for Monogenic Disorders.
Genes (Basel). 2020 Jul 31;11(8):871. doi: 10.3390/genes11080871. PMID: 32752000; PMCID: PMC7463885.
ESHRE PGT Consortium and SIG-Embryology Biopsy Working Group; Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V, Liss J, Nunes S, Sfontouris I, Vermeulen N, Zakharova E, De Rycke M.
ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT.
Hum Reprod Open. 2020 May 29;2020(3):hoaa020. doi: 10.1093/hropen/hoaa020. PMID: 32500104; PMCID: PMC7257009.
ESHRE PGT Consortium Steering Committee; Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, Meijer-Hoogeveen M, Moutou C, Vermeulen N, De Rycke M.
ESHRE PGT Consortium good practice recommendations for the organisation of PGT.
Hum Reprod Open. 2020 May 29;2020(3):hoaa021. doi: 10.1093/hropen/hoaa021. PMID: 32524036; PMCID: PMC7257038.
ESHRE PGT-M Working Group; Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Giménez C, Goossens V, Kakourou G, Vermeulen N, Zuccarello D, De Rycke M.
ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders.
Hum Reprod Open. 2020 May 29;2020(3):hoaa018. doi: 10.1093/hropen/hoaa018. PMID: 32500103; PMCID: PMC7257022.
ESHRE PGT-SR/PGT-A Working Group; Coonen E, Rubio C, Christopikou D, Dimitriadou E, Gontar J, Goossens V, Maurer M, Spinella F, Vermeulen N, De Rycke M.
ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations.
Hum Reprod Open. 2020 May 29;2020(3):hoaa017. doi: 10.1093/hropen/hoaa017. PMID: 32500102; PMCID: PMC7257111.
ESHRE Working Group on Ultrasound in ART; D'Angelo A, Panayotidis C, Amso N, Marci R, Matorras R, Onofriescu M, Turp AB, Vandekerckhove F, Veleva Z, Vermeulen N, Vlaisavljevic V.
Recommendations for good practice in ultrasound: oocyte pick up†.
Hum Reprod Open. 2019 Dec 10;2019(4):hoz025. doi: 10.1093/hropen/hoz025. PMID: 31844683; PMCID: PMC6903452.
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Human Blastocyst Biopsy and Vitrification.
J Vis Exp. 2019 Jul 26;(149). doi: 10.3791/59625. PMID: 31403619.
Cimadomo D, Soscia D, Vaiarelli A, Maggiulli R, Capalbo A, Ubaldi FM, Rienzi L.
Looking past the appearance: a comprehensive description of the clinical contribution of poor-quality blastocysts to increase live birth rates during cycles with aneuploidy testing.
Hum Reprod. 2019 Jul 8;34(7):1206-1214. doi: 10.1093/humrep/dez078. PMID: 31247100.
Cimadomo D, Capalbo A, Levi-Setti PE, Soscia D, Orlando G, Albani E, Parini V, Stoppa M, Dovere L, Tacconi L, Ievoli E, Maggiulli R, Ubaldi FM, Rienzi L.
Associations of blastocyst features, trophectoderm biopsy and other laboratory practice with post-warming behavior and implantation.
Hum Reprod. 2018 Nov 1;33(11):1992-2001. doi: 10.1093/humrep/dey291. PMID: 30265329.
Diagnosi Genetica Preimpianto - PGT
Raccomandazioni SIGU 2017 per la pratica clinica https://sigu.net/wp-content/uploads/2020/11/2043-2017_08_09_Raccomandazioni-PGT2017-ApprovatoCDSIGU.pdf
Cimadomo D, Capalbo A, Ubaldi FM, Scarica C, Palagiano A, Canipari R, Rienzi L.
The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis.
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Capalbo A, Rienzi L, Cimadomo D, Maggiulli R, Elliott T, Wright G, Nagy ZP, Ubaldi FM.
Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts.
Hum Reprod. 2014 Jun;29(6):1173-81. doi: 10.1093/humrep/deu033. Epub 2014 Feb 26. PMID: 24578475.
Capalbo A, Rienzi L, Cimadomo D, Maggiulli R, Elliott T, Wright G, Nagy ZP, Ubaldi FM.
Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts.
Hum Reprod. 2014 Jun;29(6):1173-81. doi: 10.1093/humrep/deu033. Epub 2014 Feb 26. PMID: 24578475.
Scott RT Jr, Upham KM, Forman EJ, Zhao T, Treff NR.
Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial.
Fertil Steril. 2013 Sep;100(3):624-30. doi: 10.1016/j.fertnstert.2013.04.039. Epub 2013 Jun 15. PMID: 23773313.
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