Melloni G - Search Results

1

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Bianchessi D, Ibba MC, Saletti V, Blasa S, Langella T, Paterra R, Cagnoli GA, Melloni G, Scuvera G, Natacci F, Cesaretti C, Finocchiaro G, Eoli M. Bianchessi D, et al. Among authors: melloni g. Genes (Basel). 2020 Jun 19;11(6):671. doi: 10.3390/genes11060671. Genes (Basel). 2020. PMID: 32575496 Free PMC article.

2

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

Cesaretti C, Gentilin B, Bianchi V, Melloni G, Bonaguro M, Rossi C, Meazzini C, Brusati R, Lalatta F. Cesaretti C, et al. Among authors: melloni g. Clin Dysmorphol. 2011 Oct;20(4):229-231. doi: 10.1097/MCD.0b013e3283491725. Clin Dysmorphol. 2011. PMID: 21772136 No abstract available.

3

Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.

Viola F, Villani E, Natacci F, Selicorni A, Melloni G, Vezzola D, Barteselli G, Mapelli C, Pirondini C, Ratiglia R. Viola F, et al. Among authors: melloni g. Ophthalmology. 2012 Feb;119(2):369-75. doi: 10.1016/j.ophtha.2011.07.046. Epub 2011 Oct 2. Ophthalmology. 2012. PMID: 21963267 Free article.

4

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Cesaretti C, Melloni G, Quagliarini D, Fogliani R, Zaina B, Bedeschi MF, Lalatta F, Trespidi L, Natacci F. Cesaretti C, et al. Among authors: melloni g. Am J Med Genet A. 2013 Feb;161A(2):386-8. doi: 10.1002/ajmg.a.35720. Epub 2013 Jan 16. Am J Med Genet A. 2013. PMID: 23325535 No abstract available.

5

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue.

Natacci F, Melloni G, Motta F, Silipigni R, Doniselli F, Rizzuti T, Frigerio M, Guerneri S. Natacci F, et al. Among authors: melloni g. Cytogenet Genome Res. 2015;146(1):44-50. doi: 10.1159/000435796. Epub 2015 Jul 22. Cytogenet Genome Res. 2015. PMID: 26201389

6

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F. Tucci A, et al. Among authors: melloni g. J Hum Genet. 2017 Nov;62(11):1001-1004. doi: 10.1038/jhg.2017.78. Epub 2017 Jul 27. J Hum Genet. 2017. PMID: 28747691

7

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F. Tucci A, et al. Among authors: melloni g. J Hum Genet. 2018 Mar;63(3):391. doi: 10.1038/s10038-017-0369-8. Epub 2018 Feb 7. J Hum Genet. 2018. PMID: 29479078

8

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Saletti V, Viganò I, Melloni G, Pantaleoni C, Vetrano IG, Valentini LG. Saletti V, et al. Among authors: melloni g. Childs Nerv Syst. 2019 Oct;35(10):1727-1739. doi: 10.1007/s00381-019-04319-5. Epub 2019 Jul 30. Childs Nerv Syst. 2019. PMID: 31363831

9

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G, Eoli M, Cesaretti C, Bianchessi D, Ibba MC, Esposito S, Scuvera G, Morcaldi G, Micheli R, Piozzi E, Avignone S, Chiapparini L, Pantaleoni C, Natacci F, Finocchiaro G, Saletti V. Melloni G, et al. Cancers (Basel). 2019 Nov 21;11(12):1838. doi: 10.3390/cancers11121838. Cancers (Basel). 2019. PMID: 31766501 Free PMC article.

10

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Santaniello C, Faversani A, Corsaro L, Melloni G, Motta S, Mandorino E, Sacco D, Stioui S, Ferrara F, Barteselli D, De Vita D, Manuelli D, Costantino L. Santaniello C, et al. Among authors: melloni g. Genes (Basel). 2024 Apr 24;15(5):536. doi: 10.3390/genes15050536. Genes (Basel). 2024. PMID: 38790165 Free PMC article.

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