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Embryo Implantation and Placental Development
| Embryo Implantation and Placental Development |
| Autore | Campagnolo Luisa |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (342 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences |
| Soggetto non controllato |
fetuin-A
GDM cell growth centrosome primary cilium autophagy implantation endometrium blastocyst embryo chorionic gonadotropin progesterone Notch cytokines placenta amino acid transporter mammalian target of rapamycin gestational diabetes trophectoderm cell proliferation let-7 miRNAs gene regulation fractalkine trophoblast bilaminar co-culture miRNA trophoblast cells ARID3B complex decidualization adverse pregnancy outcome preconception preimplantation genetic screening in-vitro fertilization biopsy euploid embryo pregnancy mosaicism development flow culture KIT receptor KITD816V placental development premature differentiation trophoblast stem cell trophoblast giant cell spongiotrophoblast invasion embryonic growth retardation Jag1 Dll4 endothelial cells decidua angiogenesis capillaries spiral arteries Stabilin-1 Stabilin-2 double knockout hemorrhage RNA-seq ChIP-seq enhancers transcription factors PLAGL1 tube formation blood vessel development PlGF Flt-1/VEGFR1 immune modulation human placenta lopinavir mitochondria Mfn2 UPR IRE1α placental dysfunction assisted reproduction techniques infertility preeclampsia intrauterine growth restriction trophoblast invasion sFLT-1 EGFL7 placenta-derived mesenchymal stromal cells mouse model |
| ISBN | 3-0365-5853-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910639986303321 |
Campagnolo Luisa
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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EmbryoGenetics
| EmbryoGenetics |
| Autore | Simón Carlos |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (176 p.) |
| Soggetto topico | Research and information: general |
| Soggetto non controllato |
advanced maternal age
aneuploidies aneuploidy apoptotic bodies Autosomal dominant polycystic kidney disease (ADPKD) blastocyst chromosomal abnormality combined preimplantation genetic testing DNA embryo embryo genetics embryos endometrium exosomes extracellular vesicles female age genetic diseases genetic testing genome editing genomic index implantation infertility male infertility microvesicles monogenic disease mosaicism multiplex PCR murine blastocysts next-generation sequencing NGS ovarian response perinatal care PGT-A PGT-P PGT-SR polygenic disease polygenic risk scoring preimplantation embryos preimplantation genetic testing Preimplantation genetic testing for aneuploidy assessment (PGT-A) Preimplantation genetic testing for monogenic disorders (PGT-M) relative risk reduction reproductive health segmental SNP array translocations uterus vitrification whole exome sequencing window of implantation |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557725303321 |
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Simón Carlos
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Genetic Testing for Rare Diseases
| Genetic Testing for Rare Diseases |
| Autore | Millán José |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (144 p.) |
| Soggetto topico | Medicine and Nursing |
| Soggetto non controllato |
ACTG1
Altaians ataxia bioinformatics child clinical genetics DFNA5 DFNB4 dystonia early onset ataxia familial hearing loss genetic counselling genetic diagnosis genetic testing growth hormone deficiency GSDME hearing loss HMG-CoA lyase deficiency HMGCL HMGLD imprinting disorder inborn errors of metabolism inherited metabolic diseases inherited retinal diseases insulin-like growth factor 1 lysosomal disorders mosaicism multiple diagnoses MYH9 n/a network analysis neurodevelopment neuromuscular disease next generation sequencing NGS non-syndromic hearing loss phenotype pituitary microadenoma Prader-Willi syndrome professional recognition rare diseases recombinant human growth hormone retina ring chromosomes Russia single-exon CNV SLC26A4 Southern Siberia syndrome Turner syndrome Tuvinians whole exome sequencing |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
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Millán José
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019
| Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019 |
| Autore | Butler Merlin G |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (256 p.) |
| Soggetto topico |
Biology, life sciences
Genetics (non-medical) Research & information: general |
| Soggetto non controllato |
15q11.2 BP1-BP2 microdeletion (Burnside-Butler syndrome)
15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome AMPA receptors AmplideX animal model ASD autism autism candidate genes autism spectrum disorder Autism spectrum disorder autism spectrum disorders autism spectrum disorders (ASD) biological networks BMI Body mass index cancer case-control association analysis collapsin response mediator protein 4 CYFIP1 cytokine data integration developmental delays DNA methylation epigenetics expression profile fragile X syndrome gene expression genetics genomics guanine nucleotide exchange factor gut gut-brain interaction heterogeneity reduction IL-6 imprinting intellectual disability leaky gut magnesium transporters and supplementation maternal immune activation mice microbiome microRNA- interactions molecular functions and processes monocyte mosaicism motor delays MS-QMA multi-omics nanostring network diffusion neurodevelopmental disorder NIPA1 NIPA2 NMDA receptors Obesity overlapping genes and gene profiling Overweight parent-of-origin effects pediatrics Phelan McDermid Syndrome phenotype-genotype correlation phenotypes and diseases postnatal VPA injection potential treatment options Prader-Willi and Angelman syndromes ProSAP2 quantitative traits RNA toxicity SAM sex different phenotypes SHANK stratification by trait severity STRING-protein-protein interaction super-pathways synaptic plasticity synaptotagmin-like protein 4 (SYTL4) SYTL4-protein structure T cell cytokine trained immunity transmembrane protein 187 (TMEM187) TUBGCP5 genes whole-exome sequencing β-glucan |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566483203321 |
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Butler Merlin G
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Towards Mechanism-based Treatments for Fragile X Syndrome / Inbal Gazy, Daman Kumari
| Towards Mechanism-based Treatments for Fragile X Syndrome / Inbal Gazy, Daman Kumari |
| Autore | Gazy Inbal |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (250 p.) |
| Soggetto topico | Biology, life sciences |
| Soggetto non controllato |
lymphoblast
pluripotent stem cells FMR1 Gene editing X chromosome Fmr1 epigenetic gene silencing FMR1 gene Fragile X syndrome 1 repeat instability characteristics that have the greatest impact DNA instability working memory language development mosaicism CRISPR 3 clinical trials autism spectrum disorders Fmr1 KO mouse automated vocal analysis base excision repair (BER) inhibitory control cerebral spinal fluid iPSC drug development targeted treatments molecular biomarkers viral vector avoidance biomarker set-shifting early identification expansion anxiety planning voice of the person mismatch repair (MMR) gene reactivation double-strand break repair (DSBR) newborn screening intellectual disability processing speed voice of the patient fragile X syndrome adeno-associated virus neurodevelopmental disorders histone methylation Non-homologous end-joining (NHEJ) ASD Fxr2 Fragile X-associated Tremor/Ataxia Syndrome 2 Trinucleotide Repeat 4 CGG Repeat Expansion Disease DNA methylation contraction fragile X mental retardation protein RNA:DNA hybrid behavior developmental disorders cognition females FMRP Fragile X Syndrome unstable repeat diseases protein synthesis brain cognitive flexibility treatment development fibroblast PRC2 transcription coupled repair (TCR) best practices attention Fragile X executive function |
| ISBN |
9783039215065
303921506X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367759103321 |
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Gazy Inbal
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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