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

VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.

Carli D, Garagnani L, Lando M, Fairplay T, Bernasconi S, Landi A, Percesepe A. Carli D, et al. J Pediatr. 2014 Mar;164(3):458-62.e1-2. doi: 10.1016/j.jpeds.2013.09.033. Epub 2013 Nov 7. J Pediatr. 2014. PMID: 24210691

3

A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.

Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, Fini S, Ferrari F, Percesepe A. Elmakky A, et al. Among authors: carli d. Eur J Med Genet. 2014 Mar;57(4):145-50. doi: 10.1016/j.ejmg.2014.02.005. Epub 2014 Feb 18. Eur J Med Genet. 2014. PMID: 24556499

4

Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.

Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB. Bergallo M, et al. Among authors: carli d. Pathobiology. 2019;86(4):217-224. doi: 10.1159/000500627. Epub 2019 Jun 25. Pathobiology. 2019. PMID: 31238307

5

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.

6

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.

7

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

8

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

9

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.

10

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.

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

115 results

Search Page

Filters