A standardized approach for case selection and genomic data analysis of maternal exomes for the diagnosis of oocyte maturation and early embryonic developmental arrest in IVF

Autor: A. Capalbo, S. Buonaiuto, M. Figliuzzi, G. Damaggio, L. Girardi, S. Caroselli, M. Poli, C. Patassini, M. Cetinkaya, B. Yuksel, A. Azad, M. L. Grøndahl, E. R. Hoffmann, C. Simón, V. Colonna, S. Kahraman

OBJECTIVETo develop a methodology for case selection and whole-exome sequencing (WES) analysis in infertile women due to recurrent oocyte maturation defects(OOMD) and/or preimplantation embryo lethality (PREMBL).DESIGNRetrospective cohort study.SETTI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4bd6d7184beb9b45fa8d4fc836d21126
https://doi.org/10.1101/2021.12.09.21266949

O-115 Parental whole-exome sequencing allows the discovery of genetic causes of extreme IVF phenotypes such as oocyte/embryo developmental arrest and recurrent low fertilization

Autor: G Damaggio, Colonna, Semra Kahraman, Carlos Simón, Murat Cetinkaya, Beril Yuksel, Antonio Capalbo, S Buonaiuto

Publikováno v: Human Reproduction. 36

Study question Do whole-exome sequencing (WES) data from infertile women provide valuable information for the discovery of genes/pathways involved in extreme IVF phenotypes, i.e. oocyte/embryo developmental arrest? Summary answer The development of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5f636f2b9a9b022e142cf3bfaee618b
https://doi.org/10.1093/humrep/deab126.024

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Predictive medicine in a testis trio-family through a combined multi-omics approach.

Autor: Di Maggio F; CEINGE - Biotecnologie Avanzate Franco Salvatore, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy., Damaggio G; Institute of Genetics and Biophysics 'A. Buzzati-Traverso', National Research Council (CNR), Naples, Italy., Nunziato M; CEINGE - Biotecnologie Avanzate Franco Salvatore, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy., Buonaiuto S; Institute of Genetics and Biophysics 'A. Buzzati-Traverso', National Research Council (CNR), Naples, Italy., Crocetto F; Department of Neurosciences, Human Reproduction and Odontostomatology, University of Naples Federico II, Naples, Italy., Calabrese A; Department of Breast Disease, Division of Breast Surgery, National Cancer Institute, IRCCS 'Fondazione G. Pascale', Naples, Italy., Aveta A; Department of Neurosciences, Human Reproduction and Odontostomatology, University of Naples Federico II, Naples, Italy., Vino G; Bari Department, INFN (National Institute for Nuclear Physics), Bari, Italy., Donvito G; Bari Department, INFN (National Institute for Nuclear Physics), Bari, Italy., Pandolfo SD; Department of Neurosciences, Human Reproduction and Odontostomatology, University of Naples Federico II, Naples, Italy., Imbimbo C; Department of Neurosciences, Human Reproduction and Odontostomatology, University of Naples Federico II, Naples, Italy., Colonna V; Institute of Genetics and Biophysics 'A. Buzzati-Traverso', National Research Council (CNR), Naples, Italy.; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, College of Medicine, Memphis, USA., Salvatore F; CEINGE - Biotecnologie Avanzate Franco Salvatore, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.

Publikováno v: Clinical and translational medicine [Clin Transl Med] 2024 Apr; Vol. 14 (4), pp. e1643.