المؤلفون: Catia Mio, Federica Baldan, Giuseppe Damante

المصدر: Genes & Diseases.

مصطلحات موضوعية: Homeotic genes, Evolutionary conservation, Drosophila melanogaster, Homeobox, NK2 genes, Cell Biology, Molecular Biology, Biochemistry, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83155fd350422833e775c0a8e620ef2Test
https://doi.org/10.1016/j.gendis.2022.10.001Test

المؤلفون: Cosimo Durante, Giorgio Grani, Giuseppe Damante, Catia Mio

المصدر: Clinical Genetics. 97:222-231

مصطلحات موضوعية: congenital hypothyroidism, next-generation sequencing, null mice, thyroid dysgenesis, 0301 basic medicine, endocrine system, Genotype, endocrine system diseases, Thyroid Gland, 030105 genetics & heredity, Biology, medicine.disease_cause, Thyroid dysgenesis, Mice, 03 medical and health sciences, Congenital Hypothyroidism, Genetics, medicine, Animals, Humans, Endocrine system, Gene, Genetics (clinical), Genetic testing, Mutation, medicine.diagnostic_test, Thyroid, High-Throughput Nucleotide Sequencing, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, medicine.anatomical_structure, Thyroid Dysgenesis, PAX8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad498417dff6b7f9e35918905591a6c3Test
https://doi.org/10.1111/cge.13627Test

المؤلفون: Federico Fogolari, Dora Fabbro, Giuseppe Damante, Catia Mio

المصدر: Journal of human genetics. 66(12)

مصطلحات موضوعية: 0301 basic medicine, Adult, Genotype, Endosome, Hereditary spastic paraplegia, Magnesium transporter, Mutation, Missense, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, Mutation, Spastic Paraplegia, Hereditary, Membrane Proteins, medicine.disease, Transmembrane domain, 030104 developmental biology, Phenotype, Amino Acid Substitution, Female, Signal transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bddd6d0099fa4a2b1c0bae53e21068f9Test
https://pubmed.ncbi.nlm.nih.gov/34108639Test

المؤلفون: Catia Mio, Federico Fogolari, Nadia Passon, Antonio Novelli, Carla Pittini, Giuseppe Damante, Claudia Cesario

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: medicine.medical_specialty, Cornelia De Lange syndrome, Cornelia de Lange Syndrome, Protein Conformation, Mutation, Missense, Genomics, Biology, QH426-470, trio-based exome sequencing, Histone Deacetylases, Clinical Reports, HDAC8, molecular modeling, De Lange Syndrome, medicine, Genetics, Humans, Missense mutation, Molecular Biology, Genetics (clinical), Exome sequencing, trio‐based exome sequencing, Clinical Report, Molecular pathology, medicine.disease, Repressor Proteins, Child, Preschool, Mutation (genetic algorithm), Medical genetics, Female, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a7f20269a03ed23a9ad5622e8db1f2dTest
http://hdl.handle.net/11390/1209421Test

المؤلفون: Angela Valentina D'Elia, Giuseppe Damante, Maria Iascone, Laura Pezzoli, Federico Fogolari, Catia Mio

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Adolescent, BBSOAS, monozygotic twins, NR2F1, whole exome sequencing, Mutation, Missense, Genomics, 030105 genetics & heredity, Biology, medicine.disease_cause, Clinical Reports, DNA sequencing, 03 medical and health sciences, Optic Atrophy, Autosomal Dominant, Genetics, medicine, Humans, Missense mutation, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Mutation, Binding Sites, COUP Transcription Factor I, Clinical Report, DNA, Twins, Monozygotic, DNA-binding domain, lcsh:Genetics, 030104 developmental biology, Medical genetics, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bcf88b2faab8428ed9c9e8a32b6a15aTest
https://doi.org/10.1002/mgg3.1278Test

المؤلفون: Nadia Passon, Giuseppe Damante, Lorenzo Allegri, Elisa Bregant, Alessandra Franzoni, Andrea Riccio, Catia Mio, Eliana Demori, Daniela Driul, Federica Baldan

المساهمون: Mio, C., Allegri, L., Passon, N., Bregant, E., Demori, E., Franzoni, A., Driul, D., Riccio, A., Damante, G., Baldan, F.

المصدر: Eur J Hum Genet
European journal of human genetics (Online) (2020). doi:10.1038/s41431-020-00753-1
info:cnr-pdr/source/autori:Mio C.; Allegri L.; Passon N.; Bregant E.; Demori E.; Franzoni A.; Driul D.; Riccio A.; Damante G.; Baldan F./titolo:A paternally inherited 1.4 kb deletion of the 11p15.5 Imprinting Center 2 is associated with a mild familial Silver-Russell syndrome phenotype/doi:10.1038%2Fs41431-020-00753-1/rivista:European journal of human genetics (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: Proband, Body asymmetry, Biology, Short stature, Article, Genomic Imprinting, parasitic diseases, Genetics, medicine, Humans, Imprinting (psychology), Child, Genetics (clinical), Silver–Russell syndrome, Chromosomes, Human, Pair 11, Chromosome, medicine.disease, Phenotype, Silver-Russell Syndrome, Paternal Inheritance, Female, medicine.symptom, Chromosome Deletion, Silver-Russell syndrome phenotype, Genomic imprinting

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62330f2d2ee9cf91c84268b480e9b06dTest
https://pubmed.ncbi.nlm.nih.gov/33177595Test

المؤلفون: Loretta Mancini, Giuseppe Damante, Nadia Passon, Federica Baldan, Catia Mio, Elisa Bregant, Elisabetta Monaco, Eliana Demori

مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Monosomy, Expressive language defects, Calcium Channels, L-Type, Timothy syndrome, Haploinsufficiency, 030105 genetics & heredity, CGH array, 03 medical and health sciences, Genetics, medicine, Humans, Bipolar disorder, Child, Genetics (clinical), Chromosomes, Human, Pair 12, business.industry, 12p13.33 micro-deletion, Visual-motor integration delay, General Medicine, medicine.disease, 030104 developmental biology, CACNA1C, Schizophrenia, Autism spectrum disorder, Female, Chromosome Deletion, business, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb98943e6197c7d33701605a9b5fca2Test
http://hdl.handle.net/11390/1174714Test

المؤلفون: Lorenzo Allegri, Catia Mio, Mario De Felice, Federica Baldan, Giuseppe Damante, Elena Amendola

المصدر: European journal of medical genetics (2020). doi:10.1016/j.ejmg.2020.103894
info:cnr-pdr/source/autori:Allegri L.; Baldan F.; Mio C.; De Felice M.; Amendola E.; Damante G./titolo:BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome/doi:10.1016%2Fj.ejmg.2020.103894/rivista:European journal of medical genetics/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: 0301 basic medicine, endocrine system, Candidate gene, endocrine system diseases, Williams syndrome, BAZ1B, Hypothyroidism, Down-Regulation, 030105 genetics & heredity, Biology, Thyroid dysgenesis, Cell Line, 03 medical and health sciences, Neurodevelopmental disorder, Downregulation and upregulation, Genetics, medicine, Humans, Gene, Genetics (clinical), Thyroid, Chromosome, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Thyroid Epithelial Cells, Cancer research, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d42332c3df5c80f1671c8c6da8abf3Test
https://doi.org/10.1016/j.ejmg.2020.103894Test