Rinaldi B - Search Results

1

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.

2

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.

3

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.

4

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.

5

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

Rinaldi B, Cesaretti C, Boito S, Villa R, Guerneri S, Borzani I, Rizzuti T, Marchetti D, Conte G, Cinnante C, Triulzi F, Persico N, Iascone M, Natacci F. Rinaldi B, et al. Prenat Diagn. 2022 Jun;42(7):927-933. doi: 10.1002/pd.6171. Epub 2022 May 27. Prenat Diagn. 2022. PMID: 35584264

6

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Ronzoni L, Boito S, Meossi C, Cesaretti C, Rinaldi B, Agolini E, Rizzuti T, Pezzoli L, Silipigni R, Novelli A, Iascone M, Persico N, Natacci F. Ronzoni L, et al. Among authors: rinaldi b. Prenat Diagn. 2022 Nov;42(12):1493-1502. doi: 10.1002/pd.6204. Epub 2022 Jul 19. Prenat Diagn. 2022. PMID: 35788948 Review.

7

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

8

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

9

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.

10

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

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