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Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
J Bone Miner Res. 2022 Mar;37(3):465-474. doi: 10.1002/jbmr.4490. Epub 2022 Jan 17.
J Bone Miner Res. 2022.
PMID: 34897794
Free PMC article.
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
Moresco G, Costanza J, Santaniello C, Rondinone O, Grilli F, Prada E, Orcesi S, Coro I, Pichiecchio A, Marchisio P, Miozzo M, Fontana L, Milani D.
Moresco G, et al. Among authors: santaniello c.
Ital J Pediatr. 2021 Mar 31;47(1):81. doi: 10.1186/s13052-021-01033-4.
Ital J Pediatr. 2021.
PMID: 33789733
Free PMC article.
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Extensive Placental Methylation Profiling in Normal Pregnancies.
Rondinone O, Murgia A, Costanza J, Tabano S, Camanni M, Corsaro L, Fontana L, Colapietro P, Calzari L, Motta S, Santaniello C, Radaelli T, Ferrazzi E, Bosari S, Gentilini D, Sirchia SM, Miozzo M.
Rondinone O, et al. Among authors: santaniello c.
Int J Mol Sci. 2021 Feb 21;22(4):2136. doi: 10.3390/ijms22042136.
Int J Mol Sci. 2021.
PMID: 33669975
Free PMC article.
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(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Fontana L, Bedeschi MF, Cagnoli GA, Costanza J, Persico N, Gangi S, Porro M, Ajmone PF, Colapietro P, Santaniello C, Crippa M, Sirchia SM, Miozzo M, Tabano S.
Fontana L, et al. Among authors: santaniello c.
Mol Genet Genomic Med. 2020 Sep;8(9):e1386. doi: 10.1002/mgg3.1386. Epub 2020 Jul 6.
Mol Genet Genomic Med. 2020.
PMID: 32627967
Free PMC article.
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Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22, 2136.
Rondinone O, Murgia A, Costanza J, Tabano S, Camanni M, Corsaro L, Fontana L, Colapietro P, Calzari L, Motta S, Santaniello C, Radaelli T, Ferrazzi E, Bosari S, Gentilini D, Sirchia SM, Miozzo M.
Rondinone O, et al. Among authors: santaniello c.
Int J Mol Sci. 2022 May 10;23(10):5298. doi: 10.3390/ijms23105298.
Int J Mol Sci. 2022.
PMID: 35628670
Free PMC article.
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Rare ATG7 genetic variants predispose patients to severe fatty liver disease.
Baselli GA, Jamialahmadi O, Pelusi S, Ciociola E, Malvestiti F, Saracino M, Santoro L, Cherubini A, Dongiovanni P, Maggioni M, Bianco C, Tavaglione F, Cespiati A, Mancina RM, D'Ambrosio R, Vaira V, Petta S, Miele L, Vespasiani-Gentilucci U, Federico A, Pihlajamaki J, Bugianesi E, Fracanzani AL, Reeves HL, Soardo G, Prati D, Romeo S, Valenti LV; EPIDEMIC Study Investigators.
Baselli GA, et al.
J Hepatol. 2022 Sep;77(3):596-606. doi: 10.1016/j.jhep.2022.03.031. Epub 2022 Apr 9.
J Hepatol. 2022.
PMID: 35405176
Free article.
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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L.
Moresco G, et al. Among authors: santaniello c.
Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1.
Genes Genomics. 2023.
PMID: 36454368
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