Leoni C - Search Results

1

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Among authors: leoni c. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.

2

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

Leoni C, Cesarini L, Dittoni S, Battaglia D, Novelli A, Bernardini L, Losurdo A, Vollono C, Testani E, Della Marca G, Zampino G. Leoni C, et al. Am J Med Genet A. 2010 Mar;152A(3):708-12. doi: 10.1002/ajmg.a.32700. Am J Med Genet A. 2010. PMID: 20186811

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. 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

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: leoni c. 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: leoni c. 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. 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

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. Among authors: leoni c. 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.

8

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: leoni c. 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.

9

The dark side of COVID-19: The need of integrated medicine for children with special care needs.

Leoni C, Giorgio V, Onesimo R, Tarani L, Celli M, Selicorni A, Zampino G. Leoni C, et al. Am J Med Genet A. 2020 Aug;182(8):1988-1989. doi: 10.1002/ajmg.a.61722. Epub 2020 Jun 24. Am J Med Genet A. 2020. PMID: 32578344 Free PMC article. No abstract available.

10

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

Rigante D, Stellacci E, Leoni C, Onesimo R, Radio FC, Pizzi S, Giorgio V, Tornesello A, Tartaglia M, Zampino G. Rigante D, et al. Among authors: leoni c. Immunol Lett. 2020 Sep;225:64-65. doi: 10.1016/j.imlet.2020.06.012. Epub 2020 Jun 24. Immunol Lett. 2020. PMID: 32592741 No abstract available.

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