Di Muro E - Search Results

1

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.

Palumbo O, Palumbo P, Di Muro E, Cinque L, Petracca A, Carella M, Castori M. Palumbo O, et al. Among authors: di muro e. Genes (Basel). 2020 Jun 26;11(6):707. doi: 10.3390/genes11060707. Genes (Basel). 2020. PMID: 32604767 Free PMC article.

2

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M. Palumbo P, et al. Among authors: di muro e. Genes (Basel). 2020 Mar 31;11(4):379. doi: 10.3390/genes11040379. Genes (Basel). 2020. PMID: 32244554 Free PMC article.

3

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: di muro e. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.

4

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.

Palumbo P, Di Muro E, Accadia M, Benvenuto M, Di Giacomo MC, Castellana S, Mazza T, Castori M, Palumbo O, Carella M. Palumbo P, et al. Among authors: di muro e. Genes (Basel). 2021 Feb 5;12(2):229. doi: 10.3390/genes12020229. Genes (Basel). 2021. PMID: 33562463 Free PMC article.

5

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

Di Muro E, Palumbo P, Benvenuto M, Accadia M, Di Giacomo MC, Manieri S, Abate R, Tagliente M, Castellana S, Mazza T, Carella M, Palumbo O. Di Muro E, et al. Genes (Basel). 2021 Jul 23;12(8):1116. doi: 10.3390/genes12081116. Genes (Basel). 2021. PMID: 34440290 Free PMC article.

6

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.

d'Orsi G, Farolfi A, Muccioli L, Palumbo O, Palumbo P, Modoni S, Allegri V, Garibotto V, Di Claudio MT, Di Muro E, Benvenuto M, Bisulli F, Carella M. d'Orsi G, et al. Among authors: di muro e. Front Neurol. 2023 Jun 28;14:1202971. doi: 10.3389/fneur.2023.1202971. eCollection 2023. Front Neurol. 2023. PMID: 37448753 Free PMC article.

7

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Benvenuto M, Palumbo P, Di Muro E, Perrotta CS, Mazza T, Mandarà GML, Palumbo O, Carella M. Benvenuto M, et al. Among authors: di muro e. Genes (Basel). 2023 Oct 18;14(10):1958. doi: 10.3390/genes14101958. Genes (Basel). 2023. PMID: 37895307 Free PMC article.

8

Gonadal Mosaicism for an ASH1L Intragenic Deletion Makes a Bridge Between MRD52 and 1q22 Microdeletion.

Di Muro E, Petracca A, Castori M, Palumbo O. Di Muro E, et al. Am J Med Genet A. 2024 Dec 10:e63960. doi: 10.1002/ajmg.a.63960. Online ahead of print. Am J Med Genet A. 2024. PMID: 39655631

9

The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.

Dinoi G, Conte E, Palumbo O, Benvenuto M, Coppola MA, Palumbo P, Lastella P, Boccanegra B, Di Muro E, Castori M, Carella M, Sciruicchio V, de Tommaso M, Liantonio A, De Luca A, La Neve A, Imbrici P. Dinoi G, et al. Among authors: di muro e. Biomedicines. 2024 Jul 31;12(8):1698. doi: 10.3390/biomedicines12081698. Biomedicines. 2024. PMID: 39200163 Free PMC article.

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