Onesimo R - Search Results

1

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Motta M, Solman M, Bonnard AA, Kuechler A, Pantaleoni F, Priolo M, Chandramouli B, Coppola S, Pizzi S, Zara E, Ferilli M, Kayserili H, Onesimo R, Leoni C, Brinkmann J, Vial Y, Kamphausen SB, Thomas-Teinturier C, Guimier A, Cordeddu V, Mazzanti L, Zampino G, Chillemi G, Zenker M, Cavé H, den Hertog J, Tartaglia M. Motta M, et al. Among authors: onesimo r. Hum Mol Genet. 2022 Aug 23;31(16):2766-2778. doi: 10.1093/hmg/ddac071. Hum Mol Genet. 2022. PMID: 35348676 Free PMC article.

2

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

3

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

4

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.

5

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

6

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

7

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

8

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Leoni C, Gullo G, Resta N, Fagotti A, Onesimo R, Schwartz B, Kazakin J, Abbadessa G, Crown J, Collins CD, Ranieri C, Scambia G, Zampino G. Leoni C, et al. Among authors: onesimo r. Am J Med Genet A. 2019 Jul;179(7):1319-1324. doi: 10.1002/ajmg.a.61160. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31058421

9

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

Onesimo R, De Rose C, Delogu AB, Battista A, Leoni C, Veltri S, De Rosa G, Zampino G. Onesimo R, et al. Ital J Pediatr. 2019 Dec 19;45(1):167. doi: 10.1186/s13052-019-0759-y. Ital J Pediatr. 2019. PMID: 31856879 Free PMC article.

10

One case of anetoderma post-vitamin K₁ injection in a newborn.

Esposito I, Guerriero C, Leoni C, Onesimo R, Zampino G, Peris K. Esposito I, et al. Among authors: onesimo r. Int J Dermatol. 2020 May;59(5):e168-e169. doi: 10.1111/ijd.14779. Epub 2020 Jan 20. Int J Dermatol. 2020. PMID: 31957865 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

123 results

Search Page

Filters