Peron A - Search Results

1

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogné B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M. Niceta M, et al. Among authors: peron a. Clin Genet. 2023 Feb;103(2):156-166. doi: 10.1111/cge.14247. Epub 2022 Nov 24. Clin Genet. 2023. PMID: 36224108 Free PMC article.

2

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Caselli R, Ballarati L, Vignoli A, Peron A, Recalcati MP, Catusi I, Larizza L, Giardino D. Caselli R, et al. Among authors: peron a. Eur J Med Genet. 2015 Nov;58(11):578-83. doi: 10.1016/j.ejmg.2015.08.003. Epub 2015 Aug 19. Eur J Med Genet. 2015. PMID: 26297194 Review.

3

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

Ronzoni L, Novelli A, Brisighelli G, Peron A, Triulzi F, Bianchi V, Leva E, Bedeschi MF. Ronzoni L, et al. Among authors: peron a. Cytogenet Genome Res. 2016;150(1):23-28. doi: 10.1159/000452090. Epub 2016 Dec 3. Cytogenet Genome Res. 2016. PMID: 27915340

4

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.

Peron A, Canevini MP, Ghelma F, Arancio R, Savini MN, Vignoli A. Peron A, et al. J Med Genet. 2022 Jan;59(1):39-45. doi: 10.1136/jmedgenet-2020-107333. Epub 2020 Oct 26. J Med Genet. 2022. PMID: 33106377 Free PMC article.

5

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.

Peron A, Catusi I, Recalcati MP, Calzari L, Larizza L, Vignoli A, Canevini MP. Peron A, et al. Front Neurol. 2020 Dec 8;11:613035. doi: 10.3389/fneur.2020.613035. eCollection 2020. Front Neurol. 2020. PMID: 33363513 Free PMC article. Review.

6

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

Catusi I, Garzo M, Capra AP, Briuglia S, Baldo C, Canevini MP, Cantone R, Elia F, Forzano F, Galesi O, Grosso E, Malacarne M, Peron A, Romano C, Saccani M, Larizza L, Recalcati MP. Catusi I, et al. Among authors: peron a. Genes (Basel). 2021 Apr 27;12(5):652. doi: 10.3390/genes12050652. Genes (Basel). 2021. PMID: 33925474 Free PMC article.

7

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Among authors: peron a. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725

8

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Ronzoni L, Peron A, Bianchi V, Baccarin M, Guerneri S, Silipigni R, Lalatta F, Bedeschi MF. Ronzoni L, et al. Among authors: peron a. Am J Med Genet A. 2015 Jul;167(7):1551-9. doi: 10.1002/ajmg.a.37063. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25851921

9

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.

Peron A, Vignoli A, Briola F, Morenghi E, Tansini L, Alfano RM, Bulfamante G, Terraneo S, Ghelma F, Banderali G, Viskochil DH, Carey JC, Canevini MP; TSC Study Group of the San Paolo Hospital of Milan. Peron A, et al. Eur J Med Genet. 2018 Jul;61(7):403-410. doi: 10.1016/j.ejmg.2018.02.005. Epub 2018 Feb 9. Eur J Med Genet. 2018. PMID: 29432982

10

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.

Peron A, Au KS, Northrup H. Peron A, et al. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):281-290. doi: 10.1002/ajmg.c.31651. Epub 2018 Sep 26. Am J Med Genet C Semin Med Genet. 2018. PMID: 30255984 Review.

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