نتائج البحث - "Diana Postorivo"

المساهمون: Turco, E, Vinci, E, Altieri, F, Ferrari, D, Torres, B, Goldoni, M, Lamorte, G, Tata, A, Mazzoccoli, G, Postorivo, D, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J

المصدر: Stem Cell Research, Vol 32, Iss, Pp 73-77 (2018)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8ed77e4e003cb9730fac781f59e106Test
http://www.sciencedirect.com/science/article/pii/S187350611830223XTest

6

Small 4p16.3 deletions: Three additional patients and review of the literature

المؤلفون: Diana Postorivo, Barbara Torres, Matteo Della Monica, Antonio Novelli, Anna Maria Nardone, Laura Bernardini, Francesca Clementina Radio, Bruno Dallapiccola, Cristina Gorgone, Gioacchino Scarano, Teresa Mattina, Claudia Cesario, Fabio Acquaviva, Monia Magliozzi, Viola Alesi, Fortunato Lonardo, Maria Cristina Digilio

المصدر: American Journal of Medical Genetics Part A. 176:2501-2508

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc38b4b0575bf6d38b6a87c9e93087bTest
https://doi.org/10.1002/ajmg.a.40512Test

7

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, detection rate, medicine.medical_specialty, lcsh:QH426-470, DNA Copy Number Variations, Developmental Disabilities, Genetics, Medical, 030105 genetics & heredity, Sensitivity and Specificity, Chromosomal microarray analysis (CMA), pathogenic CNV, 03 medical and health sciences, clinical marker identification, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Copy-number variation, Molecular Biology, Societies, Medical, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, business.industry, Microarray analysis techniques, Retrospective cohort study, Congenital malformations, Original Articles, Phenotype, Human genetics, lcsh:Genetics, 030104 developmental biology, Italy, Practice Guidelines as Topic, Original Article, Detection rate, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b6658258edd9595ab4d3e15be67e45Test
https://doi.org/10.1002/mgg3.1056Test

8

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

المؤلفون: Isabella Mammi, Diana Postorivo, Aminta Varricchio, Maria Garzo, Elisa Nalesso, Teresa Mattina, Ilaria Catusi, Maria Paola Recalcati, Laura Cardarelli, Nicola Beltrami, Anna Sajeva, Maria Teresa Bonati, Daniela Giardino, Annapia Verri, Lidia Larizza, Asia Costa, Nicoletta Villa, Anna Maria Nardone

المصدر: European Journal of Medical Genetics. 61:173-180

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee44c49bf4aa6e1d6440e91216290a5Test
https://doi.org/10.1016/j.ejmg.2017.11.007Test

9

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype

المؤلفون: Diana Postorivo, Anna Maria Nardone, Mariabernarda Pitzianti, Letizia Camerota, Augusto Pasini, Francesco Brancati, Costanzo Moretti, Claudio Ligas

المصدر: Cytogenetic and Genome Research. 153:22-28

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b1168c3edce22be39f893535b70e6b1Test
https://doi.org/10.1159/000481331Test

10

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

المؤلفون: Maria Iascone, Diana Postorivo, Michele Pinelli, Maria Teresa Falco, Maria Elena Sana, Fabio Acquaviva, Anna Maria Nardone, Paolo Fontana, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano

المصدر: American Journal of Medical Genetics Part A. 173:231-238

مصطلحات موضوعية: Adult, 0301 basic medicine, Offspring, Retinoic acid induced 1, media_common.quotation_subject, Genetic counseling, Mothers, 030105 genetics & heredity, Nuclear Family, Frameshift mutation, 03 medical and health sciences, Genetics, Humans, Medicine, Exome, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, media_common, Comparative Genomic Hybridization, Daughter, business.industry, Intracellular Signaling Peptides and Proteins, Genetic disorder, Facies, High-Throughput Nucleotide Sequencing, Reproducibility of Results, medicine.disease, Smith–Magenis syndrome, Pedigree, Repressor Proteins, Phenotype, 030104 developmental biology, Mutation, Female, Smith-Magenis Syndrome, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e4f7284b6b21ac2cb25ed2cda4a3d1Test
https://doi.org/10.1002/ajmg.a.37989Test

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