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Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population

Human reproduction (Oxford), 2021-07, Vol.36 (7), p.2050-2061

2021

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Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

Human reproduction (Oxford), 2023-04, Vol.38 (4), p.762-775

2023

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O-209 The incidence of different ploidy alterations in abnormally fertilized oocytes (AFO)-derived embryos

Human reproduction (Oxford), 2023-06, Vol.38 (Supplement_1)

2023

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Seminal and molecular evidence that sauna exposure affects human spermatogenesis

Human reproduction (Oxford), 2013-04, Vol.28 (4), p.877-885

2013

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Human papilloma virus in the sperm cryobank: an emerging problem?

International journal of andrology, 2011-06, Vol.34 (3), p.242-246

2011

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P-505 Clinical rescue rate of abnormally fertilized oocytes and the relationship with patient, embryo and laboratory features

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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Ploidy results distribution in blastocysts derived from normally and abnormally fertilized oocytes and the correlation with time-lapse assessment

Reproductive biomedicine online, 2024-05, Vol.48, p.104020, Article 104020

2024

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P–530 The use of wide thresholds for detecting intermediate chromosomal CNV up to 80% doesn’t improve PGT-A ability to discriminate true mosaic from uniformly aneuploid embryos

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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P-536 Pre-selected for an award: Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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P–536 Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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8. SEGMENTAL ANEUPLOIDIES SHOW MOSAIC PATTERN REDUCING PREDICTIVE VALUE COMPARED TO HIGH WHOLE CHROMOSOME ANEUPLOIDIES REPRESENTATIVENESS

Reproductive biomedicine online, 2019-08, Vol.39, p.e18-e19

2019

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Session 68: The impact of genetics in andrology

Human reproduction (Oxford), 2013-06, Vol.28 (suppl_1), p.i108-i110

2013

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Human papilloma virus in the sperm cryobank: an emerging problem?: Human papillomavirus in the sperm cryobank

International journal of andrology, 2011-06, Vol.34 (3), p.242-246

2011

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Beneficial effects of rolipram in the R6/2 mouse model of Huntington's disease

Neurobiology of disease, 2008-06, Vol.30 (3), p.375-387

2008

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Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (52), p.E11293-E11302

2017

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Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model

Human molecular genetics, 2024-05, Vol.33 (17), p.1524-1539

2024

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Chronic administration of cholesterol oximes in mice increases transcription of cytoprotective genes and improves transcriptome alterations induced by alpha-synuclein overexpression in nigrostriatal dopaminergic neurons

Neurobiology of disease, 2014-09, Vol.69, p.263-275

2014

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Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates

PloS one, 2017-06, Vol.12 (6), p.e0178556-e0178556

2017

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Metabolic disruption identified in the Huntington’s disease transgenic sheep model

Scientific reports, 2016-02, Vol.6 (1), p.20681-20681, Article 20681

2016

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Plasma metals as potential biomarkers in dementia: a case–control study in patients with sporadic Alzheimer’s disease

Biometals, 2018-04, Vol.31 (2), p.267-276

2018

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Granny trips down: is she carrying the big bad wolf?

Neurological sciences, 2013-11, Vol.34 (11), p.2077-2079

2013

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Cortical expression of brain derived neurotrophic factor and type-1 cannabinoid receptor after striatal excitotoxic lesions

Neuroscience, 2008-03, Vol.152 (3), p.734-740

2008

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18 F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Revista española de medicina nuclear e imagen molecular, 2017-07, Vol.36 (4), p.269-270

2017

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18F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

Revista española de medicina nuclear e imagen molecular, 2017-07, Vol.36 (4), p.269-270

2017

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Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

O-209 The incidence of different ploidy alterations in abnormally fertilized oocytes (AFO)-derived embryos

Seminal and molecular evidence that sauna exposure affects human spermatogenesis

Human papilloma virus in the sperm cryobank: an emerging problem?

P-505 Clinical rescue rate of abnormally fertilized oocytes and the relationship with patient, embryo and laboratory features

Ploidy results distribution in blastocysts derived from normally and abnormally fertilized oocytes and the correlation with time-lapse assessment

P–530 The use of wide thresholds for detecting intermediate chromosomal CNV up to 80% doesn’t improve PGT-A ability to discriminate true mosaic from uniformly aneuploid embryos

P-536 Pre-selected for an award: Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

P–536 Validation of a Next Generation Sequencing (NGS) workflow integrating simultaneous analysis of ploidy, microdeletions and de novo monogenic diseases for expanded preimplantation genetic testing (PGT)

8. SEGMENTAL ANEUPLOIDIES SHOW MOSAIC PATTERN REDUCING PREDICTIVE VALUE COMPARED TO HIGH WHOLE CHROMOSOME ANEUPLOIDIES REPRESENTATIVENESS

Session 68: The impact of genetics in andrology

Human papilloma virus in the sperm cryobank: an emerging problem?: Human papillomavirus in the sperm cryobank

Beneficial effects of rolipram in the R6/2 mouse model of Huntington's disease

Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model

Chronic administration of cholesterol oximes in mice increases transcription of cytoprotective genes and improves transcriptome alterations induced by alpha-synuclein overexpression in nigrostriatal dopaminergic neurons

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates

Elevation of brain glucose and polyol-pathway intermediates with accompanying brain-copper deficiency in patients with Alzheimer’s disease: metabolic basis for dementia

Metabolic disruption identified in the Huntington’s disease transgenic sheep model

Plasma metals as potential biomarkers in dementia: a case–control study in patients with sporadic Alzheimer’s disease

Granny trips down: is she carrying the big bad wolf?

Cortical expression of brain derived neurotrophic factor and type-1 cannabinoid receptor after striatal excitotoxic lesions

18 F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

18F-FDG-PET/CT guiding to diagnosis of neurosarcoidosis

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