Giacomini T - Search Results

1

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: giacomini t. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.

2

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Cytogenet Genome Res. 2017;152(1):22-28. doi: 10.1159/000477292. Epub 2017 Jun 13. Cytogenet Genome Res. 2017. PMID: 28605748

3

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501613

4

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Pisciotta L, et al. Among authors: giacomini t. Neuropediatrics. 2018 Jun;49(3):217-221. doi: 10.1055/s-0038-1639372. Epub 2018 Apr 9. Neuropediatrics. 2018. PMID: 29631299

5

Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia.

Severino M, Giacomini T, Verrina E, Prato G, Rossi A. Severino M, et al. Among authors: giacomini t. Neuroradiology. 2018 Sep;60(9):885-888. doi: 10.1007/s00234-018-2052-y. Epub 2018 Jul 6. Neuroradiology. 2018. PMID: 29978300 No abstract available.

6

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Tassano E, Uccella S, Giacomini T, Striano P, Severino M, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Cytogenet Genome Res. 2018;156(1):14-21. doi: 10.1159/000491871. Epub 2018 Aug 8. Cytogenet Genome Res. 2018. PMID: 30086552 Review.

7

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Cataldi M, Nobili L, Zara F, Combi R, Prato G, Giacomini T, Capra V, De Marco P, Ferini-Strambi L, Mancardi MM. Cataldi M, et al. Among authors: giacomini t. Seizure. 2019 Apr;67:57-60. doi: 10.1016/j.seizure.2019.02.019. Epub 2019 Mar 7. Seizure. 2019. PMID: 30903923 Free article. No abstract available.

8

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.

Giacomini T, Pisciotta L, Prato G, Meola I, Zara F, Fiorillo C, Baratto S, Severino M, De Grandis E, Mancardi MM. Giacomini T, et al. Seizure. 2019 Aug;70:56-58. doi: 10.1016/j.seizure.2019.06.029. Epub 2019 Jun 27. Seizure. 2019. PMID: 31279168 Free article. Review. No abstract available.

9

Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.

Giacomini T, Vari MS, Janis S, Prato G, Pisciotta L, Rocchi A, Michelucci A, Di Rocco M, Gandullia P, Mattioli G, Sacco O, Morana G, Mancardi MM. Giacomini T, et al. Neuropediatrics. 2019 Oct;50(5):327-331. doi: 10.1055/s-0039-1692141. Epub 2019 Jul 18. Neuropediatrics. 2019. PMID: 31319423

10

Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients.

Giacomini T, Foiadelli T, Annovazzi P, Nosadini M, Gastaldi M, Franciotta D, Panarese C, Capris P, Camicione P, Lanteri P, De Grandis E, Prato G, Cordani R, Nobili L, Morana G, Rossi A, Pistorio A, Cellerino M, Uccelli A, Sartori S, Savasta S, Mancardi MM. Giacomini T, et al. Mult Scler Relat Disord. 2020 Apr;39:101917. doi: 10.1016/j.msard.2019.101917. Epub 2019 Dec 24. Mult Scler Relat Disord. 2020. PMID: 31896061

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