Orsini AV - Search Results

1

Case of Myhre syndrome with autism and peculiar skin histological findings.

Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G. Titomanlio L, et al. Among authors: orsini av. Am J Med Genet. 2001 Oct 1;103(2):163-5. doi: 10.1002/ajmg.1517. Am J Med Genet. 2001. PMID: 11568925

2

A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females.

Pastore L, Caporaso MG, Frisso G, Orsini A, Santoro L, Sacchetti L, Salvatore F. Pastore L, et al. Mol Cell Probes. 1996 Apr;10(2):129-37. doi: 10.1006/mcpr.1996.0018. Mol Cell Probes. 1996. PMID: 8737397

3

CTG repeat number in the nonaffected allele of myotonic dystrophy patients is not critical for disease expression.

Cipollaro M, Galderisi U, Iacomino G, Galano G, Di Bernardo G, Lus G, Cotrufo R, Orsini A, Santoro L, Pastore L, Sarrantonio C, Salvatore F, Cascino A. Cipollaro M, et al. Hum Biol. 1997 Dec;69(6):887-90. Hum Biol. 1997. PMID: 9353981

4

Dystrophinopathy in a young boy with Klinefelter's syndrome.

Santoro L, Pastore L, Rippa PG, Orsini AV, Del Giudice E, Vita G, Frisso G, Salvatore F. Santoro L, et al. Among authors: orsini av. Muscle Nerve. 1998 Jun;21(6):792-5. doi: 10.1002/(sici)1097-4598(199806)21:6<792::aid-mus12>3.0.co;2-v. Muscle Nerve. 1998. PMID: 9585334

5

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Valetto A, et al. Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24. Eur J Med Genet. 2012. PMID: 22548977

6

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E. Taddeucci G, et al. Ital J Pediatr. 2010 Feb 2;36:12. doi: 10.1186/1824-7288-36-12. Ital J Pediatr. 2010. PMID: 20205897 Free PMC article.

7

17q12 microduplications: a challenge for clinicians.

Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A. Bertini V, et al. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905. Am J Med Genet A. 2015. PMID: 25691423

8

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.

Bertini V, Orsini A, Mazza R, Mandava V, Saggese G, Azzara' A, Bonuccelli A, Valetto A. Bertini V, et al. Am J Med Genet A. 2017 Jan;173(1):280-284. doi: 10.1002/ajmg.a.38002. Epub 2016 Oct 18. Am J Med Genet A. 2017. PMID: 27753286

9

Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.

Bonuccelli A, Valetto A, Orsini A, Michelucci A, Ferrari AR, Elia M, Bertini V. Bonuccelli A, et al. Am J Med Genet A. 2017 Feb;173(2):556-560. doi: 10.1002/ajmg.a.38039. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862928 No abstract available.

10

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951

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