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Year Number of Results
2015 1
2016 1
2017 1
2018 3
2019 3
2020 6
2021 8
2022 5
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23 results
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Page 1
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: caraffi sg. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
Biomarkers of cancer angioprevention for clinical studies.
Albini A, Bertolini F, Bassani B, Bruno A, Gallo C, Caraffi SG, Maramotti S, Noonan DM. Albini A, et al. Among authors: caraffi sg. Ecancermedicalscience. 2015 Nov 24;9:600. doi: 10.3332/ecancer.2015.600. eCollection 2015. Ecancermedicalscience. 2015. PMID: 26635904 Free PMC article. Review.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Among authors: caraffi sg. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I, Errichiello E, Caraffi SG, Rosato S, Bizzarri V, Pollazzon M, Trimarchi G, Contrò G, Cavirani B, Gelmini C, Napoli M, Moratti C, Pascarella R, Rizzi S, Fusco C, Zuffardi O, Garavelli L. Maini I, et al. Among authors: caraffi sg. Neurogenetics. 2021 Mar;22(1):19-25. doi: 10.1007/s10048-020-00625-2. Epub 2020 Aug 20. Neurogenetics. 2021. PMID: 32816121
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F, Caraffi SG, Zuntini R, Trimarchi G, Ivanovski I, Valeri L, Barbieri V, Marinelli M, Pancaldi A, Melli N, Cesario C, Agolini E, Cellini E, Radio FC, Crisafi A, Napoli M, Guerrini R, Tartaglia M, Novelli A, Gargano G, Zuffardi O, Garavelli L. Peluso F, et al. Among authors: caraffi sg. Genes (Basel). 2021 Jun 24;12(7):962. doi: 10.3390/genes12070962. Genes (Basel). 2021. PMID: 34202629 Free PMC article.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Among authors: caraffi sg. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study.
Di Pisa V, Provini F, Ubertiello S, Bonetti S, Ricci E, Ivanovski I, Caraffi SG, Giordano L, Accorsi P, Savasta S, Raviglione F, Boni A, Grioni D, Graziano C, Garavelli L, Cordelli DM. Di Pisa V, et al. Among authors: caraffi sg. Sleep Med. 2019 Sep;61:44-51. doi: 10.1016/j.sleep.2019.04.011. Epub 2019 Apr 26. Sleep Med. 2019. PMID: 31285160
Alazami syndrome: the first case of papillary thyroid carcinoma.
Ivanovski I, Caraffi SG, Magnani E, Rosato S, Pollazzon M, Matalonga L, Piana S, Nicoli D, Baldo C, Bernasconi S, Frasoldati A, Zuffardi O, Garavelli L. Ivanovski I, et al. Among authors: caraffi sg. J Hum Genet. 2020 Jan;65(2):133-141. doi: 10.1038/s10038-019-0682-5. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656314
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran C, Turolla L, Ballhausen D, Buros SC, Teav T, Gallart-Ayala H, Ivanisevic J, Faouzi M, Lefeber DJ, Ivanovski I, Giangiobbe S, Caraffi SG, Garavelli L, Superti-Furga A. Tran C, et al. Among authors: caraffi sg. Mol Genet Metab Rep. 2021 Jun 26;28:100777. doi: 10.1016/j.ymgmr.2021.100777. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34258226 Free PMC article.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Trimarchi G, et al. Among authors: caraffi sg. Genes (Basel). 2021 Jun 22;12(7):950. doi: 10.3390/genes12070950. Genes (Basel). 2021. PMID: 34206215 Free PMC article.
23 results