Carli D - Search Results

1

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD. Gazzin A, et al. Among authors: carli d. Front Immunol. 2023 Dec 5;14:1303251. doi: 10.3389/fimmu.2023.1303251. eCollection 2023. Front Immunol. 2023. PMID: 38116000 Free PMC article. Review.

2

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Valente FM, Sparago A, Freschi A, Hill-Harfe K, Maas SM, Frints SGM, Alders M, Pignata L, Franzese M, Angelini C, Carli D, Mussa A, Gazzin A, Gabbarini F, Acurzio B, Ferrero GB, Bliek J, Williams CA, Riccio A, Cerrato F. Valente FM, et al. Among authors: carli d. Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12. Genet Med. 2019. PMID: 30635621 Free PMC article.

3

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.

4

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

Gazzin A, Carli D, Sirchia F, Molinatto C, Cardaropoli S, Palumbo G, Zampino G, Ferrero GB, Mussa A. Gazzin A, et al. Among authors: carli d. Am J Med Genet A. 2019 Sep;179(9):1691-1702. doi: 10.1002/ajmg.a.61301. Epub 2019 Jul 24. Am J Med Genet A. 2019. PMID: 31339634

5

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome.

Carli D, Gazzin A, Bongioanni MR, Bergui M, Mussa A, Ferrero GB. Carli D, et al. Am J Med Genet A. 2020 Dec;182(12):3052-3055. doi: 10.1002/ajmg.a.61900. Epub 2020 Oct 14. Am J Med Genet A. 2020. PMID: 33052010

6

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

Carli D, Moroni A, Eleonora DG, Zonta A, Montin D, Licciardi F, Aidala E, Bordese R, Carlo PN, Brusco A, Giovanni Battista F, Mussa A. Carli D, et al. J Genet. 2021;100:5. J Genet. 2021. PMID: 33707356 Free article.

7

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.

Quarello P, Perotti D, Carli D, Giorgio E, Sirchia F, Brusco A, Ferrero GB, Mussa A, Spadea M, Ciceri S, Spreafico F, Fagioli F. Quarello P, et al. Among authors: carli d. Pediatr Blood Cancer. 2021 Sep;68(9):e29132. doi: 10.1002/pbc.29132. Epub 2021 May 24. Pediatr Blood Cancer. 2021. PMID: 34028980 No abstract available.

8

Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies.

Quarello P, Carli D, Biasoni D, Gerocarni Nappo S, Morosi C, Cotti R, Garelli E, Zucchetti G, Spadea M, Tirtei E, Spreafico F, Fagioli F. Quarello P, et al. Among authors: carli d. Cancers (Basel). 2023 Feb 17;15(4):1292. doi: 10.3390/cancers15041292. Cancers (Basel). 2023. PMID: 36831633 Free PMC article. Review.

9

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: carli d. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400

10

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.

Carli D, Resta N, Ferrero GB, Ruggieri M, Mussa A. Carli D, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):520-529. doi: 10.1002/ajmg.c.32021. Epub 2022 Dec 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 36461154 Review.

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