Rinaldi B - Search Results

1

Ocular features in Williams-Beuren syndrome: a review of the literature.

Nassisi M, Mainetti C, Aretti A, Sperti A, Nicotra V, Rinaldi B, Natacci F, Bedeschi MF, Viola F. Nassisi M, et al. Among authors: rinaldi b. Curr Opin Ophthalmol. 2023 Nov 1;34(6):514-521. doi: 10.1097/ICU.0000000000000990. Epub 2023 Aug 17. Curr Opin Ophthalmol. 2023. PMID: 37589562 Review.

2

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area.

Malaspina P, Tsopanomichalou M, Duman T, Stefan M, Silvestri A, Rinaldi B, Garcia O, Giparaki M, Plata E, Kozlov AI, Barbujani G, Vernesi C, Papola F, Ciavarella G, Kovatchev D, Kerimova MG, Anagnou N, Gavrila L, Veneziano L, Akar N, Loutradis A, Michalodimitrakis EN, Terrenato L, Novelletto A. Malaspina P, et al. Among authors: rinaldi b. Ann Hum Genet. 2001 Jul;65(Pt 4):339-49. doi: 10.1017/S0003480001008727. Ann Hum Genet. 2001. PMID: 11592923

3

BCAP31-related syndrome: The first de novo report.

Rinaldi B, Van Hoof E, Corveleyn A, Van Cauter A, de Ravel T. Rinaldi B, et al. Eur J Med Genet. 2020 Feb;63(2):103732. doi: 10.1016/j.ejmg.2019.103732. Epub 2019 Jul 19. Eur J Med Genet. 2020. PMID: 31330203

4

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

Errichiello E, Mustafa N, Vetro A, Notarangelo LD, de Jonge H, Rinaldi B, Vergani D, Giglio SR, Morbini P, Zuffardi O. Errichiello E, et al. Among authors: rinaldi b. J Pathol. 2017 Sep;243(1):9-15. doi: 10.1002/path.4926. Epub 2017 Jul 25. J Pathol. 2017. PMID: 28608987 Free PMC article.

5

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.

6

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

7

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.

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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