Onesimo R - Search Results

1

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: onesimo r. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.

2

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Maghnie M, et al. Among authors: onesimo r. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.

3

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

4

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

5

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.

6

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

7

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

8

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

9

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

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.

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