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Year | Number of Results |
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2020 | 1 |
2021 | 2 |
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Page 1
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
Biomolecules. 2023 Apr 23;13(5):725. doi: 10.3390/biom13050725.
Biomolecules. 2023.
PMID: 37238595
Free PMC article.
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases.
Rossi S, Barresi S, Colafati GS, Genovese S, Tancredi C, Costabile V, Patrizi S, Giovannoni I, Asioli S, Poliani PL, Gardiman MP, Cardoni A, Del Baldo G, Antonelli M, Gianno F, Piccirilli E, Catino G, Martucci L, Quacquarini D, Toni F, Melchionda F, Viscardi E, Zucchelli M, Dal Pos S, Gatti E, Liserre R, Schiavello E, Diomedi-Camassei F, Carai A, Mastronuzzi A, Gessi M, Giannini C, Novelli A, Onetti Muda A, Miele E, Alesi V, Alaggio R.
Rossi S, et al. Among authors: catino g.
Mod Pathol. 2024 Feb;37(2):100387. doi: 10.1016/j.modpat.2023.100387. Epub 2023 Nov 23.
Mod Pathol. 2024.
PMID: 38007157
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Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Catino G, Genovese S, Di Tommaso S, Orlando V, Petti MT, De Bernardi ML, Dallapiccola B, Novelli A, Ulgheri L, Piscopo C, Alesi V.
Catino G, et al.
Am J Med Genet A. 2022 Jun;188(6):1836-1847. doi: 10.1002/ajmg.a.62694. Epub 2022 Mar 3.
Am J Med Genet A. 2022.
PMID: 35238482
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Orlando V, Di Tommaso S, Alesi V, Loddo S, Genovese S, Catino G, Martucci L, Roberti MC, Trivisano M, Dentici ML, Specchio N, Dallapiccola B, Ferretti A, Novelli A.
Orlando V, et al. Among authors: catino g.
Int J Mol Sci. 2022 Oct 26;23(21):12900. doi: 10.3390/ijms232112900.
Int J Mol Sci. 2022.
PMID: 36361691
Free PMC article.
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Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B.
Alesi V, et al. Among authors: catino g.
Am J Med Genet A. 2021 Jan;185(1):242-249. doi: 10.1002/ajmg.a.61937. Epub 2020 Oct 24.
Am J Med Genet A. 2021.
PMID: 33098373
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Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Alesi V, Dentici ML, Genovese S, Loddo S, Bellacchio E, Orlando V, Di Tommaso S, Catino G, Calacci C, Calvieri G, Pompili D, Ubertini G, Dallapiccola B, Capolino R, Novelli A.
Alesi V, et al. Among authors: catino g.
Int J Mol Sci. 2021 Jan 13;22(2):750. doi: 10.3390/ijms22020750.
Int J Mol Sci. 2021.
PMID: 33451138
Free PMC article.
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Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
Politi C, Grillone K, Nocera D, Colao E, Bellisario ML, Loddo S, Catino G, Novelli A, Perrotti N, Rodolfo I, Malatesta P.
Politi C, et al. Among authors: catino g.
Genes (Basel). 2024 Jan 16;15(1):103. doi: 10.3390/genes15010103.
Genes (Basel). 2024.
PMID: 38254992
Free PMC article.
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