Rinaldi B - Search Results

1

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF. Cogliati F, et al. Among authors: rinaldi b. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32976. doi: 10.1002/ajmg.b.32976. Epub 2024 Feb 22. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38385826

2

Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.

Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D. Rosina E, et al. Among authors: rinaldi b. Ital J Pediatr. 2021 Feb 15;47(1):31. doi: 10.1186/s13052-021-00969-x. Ital J Pediatr. 2021. PMID: 33588901 Free PMC article.

3

Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.

Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D. Rosina E, et al. Among authors: rinaldi b. Ital J Pediatr. 2021 Sep 14;47(1):185. doi: 10.1186/s13052-021-01135-z. Ital J Pediatr. 2021. PMID: 34521463 Free PMC article. No abstract available.

4

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Rinaldi B, Ge YH, Freri E, Tucci A, Granata T, Estienne M, Sun JH, Gérard B, Bayat A, Efthymiou S, Gervasini C, Shi YS, Houlden H, Marchisio P, Milani D. Rinaldi B, et al. Neurogenetics. 2022 Jan;23(1):27-35. doi: 10.1007/s10048-021-00666-1. Epub 2021 Nov 3. Neurogenetics. 2022. PMID: 34731330 Free PMC article.

5

Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Rinaldi B, Ge YH, Freri E, Tucci A, Granata T, Estienne M, Sun JH, Gérard B, Bayat A, Efthymiou S, Gervasini C, Shi YS, Houlden H, Marchisio P, Milani D. Rinaldi B, et al. Neurogenetics. 2022 Jan;23(1):81. doi: 10.1007/s10048-021-00678-x. Neurogenetics. 2022. PMID: 34837146 Free PMC article. No abstract available.

6

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF. Rinaldi B, et al. Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335. Genes (Basel). 2022. PMID: 35205380 Free PMC article. Review.

7

Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.

Peng SX, Pei J, Rinaldi B, Chen J, Ge YH, Jia M, Wang J, Delahaye-Duriez A, Sun JH, Zang YY, Shi YY, Zhang N, Gao X, Milani D, Xu X, Sheng N, Gerard B, Zhang C, Bayat A, Liu N, Yang JJ, Shi YS. Peng SX, et al. Among authors: rinaldi b. Mol Psychiatry. 2022 Oct;27(10):4092-4102. doi: 10.1038/s41380-022-01659-8. Epub 2022 Jun 13. Mol Psychiatry. 2022. PMID: 35697757

8

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.

Rimoldi M, Rinaldi B, Villa R, Cerasani J, Beltrami B, Iascone M, Silipigni R, Boito S, Gangi S, Colombo L, Porro M, Cesaretti C, Bedeschi MF. Rimoldi M, et al. Among authors: rinaldi b. Am J Med Genet A. 2023 Feb;191(2):605-611. doi: 10.1002/ajmg.a.63054. Epub 2022 Nov 23. Am J Med Genet A. 2023. PMID: 36416235

9

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: rinaldi b. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368

10

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Conti B, Rinaldi B, Rimoldi M, Villa R, Iascone M, Gangi S, Porro M, Ajmone PF, Colli AM, Mosca F, Bedeschi MF. Conti B, et al. Among authors: rinaldi b. Am J Med Genet A. 2023 Jun;191(6):1586-1592. doi: 10.1002/ajmg.a.63164. Epub 2023 Feb 26. Am J Med Genet A. 2023. PMID: 36843271 Free article.

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