Onesimo R - Search Results

1

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Onesimo R, Versacci P, Delogu AB, De Rosa G, Pugnaloni F, Blandino R, Leoni C, Calcagni G, Digilio MC, Zollino M, Marino B, Zampino G. Onesimo R, et al. Am J Med Genet A. 2021 Jul;185(7):2003-2011. doi: 10.1002/ajmg.a.62196. Epub 2021 Apr 3. Am J Med Genet A. 2021. PMID: 33811726

2

Incomplete Kawasaki syndrome followed by systemic onset-juvenile idiopathic arthritis mimicking Kawasaki syndrome.

Rigante D, Valentini P, Onesimo R, Angelone DF, De Nisco A, Bersani G, Delogu AB. Rigante D, et al. Among authors: onesimo r. Rheumatol Int. 2010 Feb;30(4):535-9. doi: 10.1007/s00296-009-0960-1. Epub 2009 May 20. Rheumatol Int. 2010. PMID: 19455336

3

Responsiveness to intravenous immunoglobulins and occurrence of coronary artery abnormalities in a single-center cohort of Italian patients with Kawasaki syndrome.

Rigante D, Valentini P, Rizzo D, Leo A, De Rosa G, Onesimo R, De Nisco A, Angelone DF, Compagnone A, Delogu AB. Rigante D, et al. Among authors: onesimo r. Rheumatol Int. 2010 Apr;30(6):841-6. doi: 10.1007/s00296-009-1337-1. Epub 2010 Jan 5. Rheumatol Int. 2010. PMID: 20049445 Free article.

4

Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.

Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, Marrocco G, Battaglia D, Fundarò C, Neri G. Onesimo R, et al. Am J Med Genet A. 2012 Sep;158A(9):2266-71. doi: 10.1002/ajmg.a.35489. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821627

5

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

Leoni C, Onesimo R, Giorgio V, Diamanti A, Giorgio D, Martini L, Rossodivita A, Tartaglia M, Zampino G. Leoni C, et al. Among authors: onesimo r. J Pediatr. 2016 Mar;170:322-4. doi: 10.1016/j.jpeds.2015.11.076. Epub 2016 Jan 9. J Pediatr. 2016. PMID: 26778095

6

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G. Leoni C, et al. Among authors: onesimo r. Am J Med Genet A. 2016 Jun;170(6):1471-8. doi: 10.1002/ajmg.a.37625. Epub 2016 Mar 23. Am J Med Genet A. 2016. PMID: 27007857

7

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Stellacci E, Onesimo R, Bruselles A, Pizzi S, Battaglia D, Leoni C, Zampino G, Tartaglia M. Stellacci E, et al. Among authors: onesimo r. Am J Med Genet A. 2016 Sep;170(9):2389-93. doi: 10.1002/ajmg.a.37681. Epub 2016 Jun 20. Am J Med Genet A. 2016. PMID: 27320412 Review.

8

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G. Gatto A, et al. Among authors: onesimo r. Am J Med Genet A. 2018 Feb;176(2):409-414. doi: 10.1002/ajmg.a.38554. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193639

9

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Leoni C, Triumbari EKA, Vollono C, Onesimo R, Podagrosi M, Giorgio V, Kuczynska E, Veltri S, Tartaglia M, Zampino G. Leoni C, et al. Among authors: onesimo r. Am J Med Genet A. 2019 Jun;179(6):940-947. doi: 10.1002/ajmg.a.61111. Epub 2019 Mar 10. Am J Med Genet A. 2019. PMID: 30854769

10

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Leoni C, Onesimo R, Resta N, Patti ML, De Santis R, Bagnulo R, Russo L, Manfredi R, Genuardi M, Zampino G. Leoni C, et al. Among authors: onesimo r. Clin Genet. 2019 Jul;96(1):102-103. doi: 10.1111/cge.13550. Epub 2019 Apr 22. Clin Genet. 2019. PMID: 31012097

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