Parmeggiani G - Search Results

1

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.

Parmeggiani G, Minardi R, Boni A, Pruccoli J, Pini A, Licchetta L, Bisulli F, Graziano C, Seri M. Parmeggiani G, et al. Mol Syndromol. 2024 Mar;15(2):114-118. doi: 10.1159/000535144. Epub 2023 Dec 6. Mol Syndromol. 2024. PMID: 38585543 Free PMC article.

2

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.

Innoceta AM, Olivucci G, Parmeggiani G, Scarano E, Pragliola A, Graziano C. Innoceta AM, et al. Among authors: parmeggiani g. Genes (Basel). 2023 Jan 19;14(2):258. doi: 10.3390/genes14020258. Genes (Basel). 2023. PMID: 36833185 Free PMC article. Review.

3

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.

Parmeggiani G, Buldrini B, Fini S, Ferlini A, Bigoni S. Parmeggiani G, et al. Mol Syndromol. 2018 Jul;9(4):175-181. doi: 10.1159/000489842. Epub 2018 May 30. Mol Syndromol. 2018. PMID: 30140195 Free PMC article.

4

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.

Parmeggiani G, Bigoni S, Buldrini B, Garani G, Clauser L, Galiè M, Ferlini A, Fini S. Parmeggiani G, et al. Mol Syndromol. 2017 Dec;9(1):30-37. doi: 10.1159/000480159. Epub 2017 Sep 13. Mol Syndromol. 2017. PMID: 29456481 Free PMC article.

5

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

Pompilii E, Astolfi G, Calabrese O, Calzolari E, Ferlini A, Lucci M, Parmeggiani G, Seri M, Baroncini A. Pompilii E, et al. Among authors: parmeggiani g. Prenat Diagn. 2014 Jan;34(1):71-4. doi: 10.1002/pd.4257. Prenat Diagn. 2014. PMID: 24166136

6

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Ghiselli S, Parmeggiani G, Zambonini G, Cuda D. Ghiselli S, et al. Among authors: parmeggiani g. J Clin Med. 2024 Mar 5;13(5):1500. doi: 10.3390/jcm13051500. J Clin Med. 2024. PMID: 38592426 Free PMC article. Review.

7

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.

Zago S, Silvestri E, Arcangeli T, Calisesi M, Romeo C, Parmeggiani G, Parrini E, Cetica V, Guerrini R, Palicelli A, Bonasoni MP. Zago S, et al. Among authors: parmeggiani g. Fetal Pediatr Pathol. 2023 Apr;42(2):334-341. doi: 10.1080/15513815.2022.2116620. Epub 2022 Sep 1. Fetal Pediatr Pathol. 2023. PMID: 36048137

8

A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant.

Parmeggiani G, Gualandi F, Limarzi M, Ferlini A, Brotto D, Martini A, Sensi A. Parmeggiani G, et al. Clin Dysmorphol. 2022 Oct 1;31(4):185-190. doi: 10.1097/MCD.0000000000000427. Epub 2022 Jul 14. Clin Dysmorphol. 2022. PMID: 36004948 No abstract available.

9

SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.

Tonelli L, Balla C, Farnè M, Margutti A, Maniscalchi ET, De Feo G, Di Domenico A, De Raffele M, Percesepe A, Uliana V, Barili V, Serra W, Sassone B, Virzì S, De Maria E, Parmeggiani G, Assenza GE, Biagini E, Parisi V, Biffi M, Carinci V, Perugini E, Imbrici P, Ferlini A, Bertini M, Selvatici R, Gualandi F. Tonelli L, et al. Among authors: parmeggiani g. J Cardiovasc Med (Hagerstown). 2023 Dec 1;24(12):864-870. doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30. J Cardiovasc Med (Hagerstown). 2023. PMID: 37942788

10

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.

Gualandi F, Zaraket F, Malagù M, Parmeggiani G, Trabanelli C, Fini S, Dang X, Wei X, Fang M, Bertini M, Ferrari R, Ferlini A. Gualandi F, et al. Among authors: parmeggiani g. Cardiology. 2017;137(4):256-260. doi: 10.1159/000471792. Epub 2017 May 12. Cardiology. 2017. PMID: 28494446

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