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Items: 1 to 20 of 44

1.

Reasoning on Figurative Language: A Preliminary Study on Children with Autism Spectrum Disorder and Klinefelter Syndrome.

Melogno S, Pinto MA, Scalisi TG, Orsolini M, Tarani L, Di Filippo G.

Brain Sci. 2019 Mar 11;9(3). pii: E58. doi: 10.3390/brainsci9030058.

2.

High-level language competencies and Theory of Mind in a group of children with Klinefelter syndrome.

Melogno S, Pinto MA, Badolato F, Sist E, Esposito A, Orsolini M, Tarani L.

Am J Med Genet A. 2019 Feb;179(2):183-189. doi: 10.1002/ajmg.a.12. Epub 2019 Jan 8.

PMID:
30618195
3.

Beyond the Literal Meaning of Words in Children with Klinefelter Syndrome: Two Case Studies.

Melogno S, Pinto MA, Orsolini M, Tarani L.

Brain Sci. 2018 Sep 7;8(9). pii: E171. doi: 10.3390/brainsci8090171.

4.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
5.

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, Stronati M, Villani A, Renieri A, Corsello G; their respective Scientific Societies.

Ital J Pediatr. 2017 Nov 3;43(1):100. doi: 10.1186/s13052-017-0418-0. Review.

6.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
7.

Unreliable estimation of prevalence of fetal alcohol syndrome.

Pichini S, Busardò FP, Ceccanti M, Tarani L, Pacifici R; Italian Society on FASD (SIFASD).

Lancet Glob Health. 2017 Jun;5(6):e574. doi: 10.1016/S2214-109X(17)30173-0. No abstract available.

8.

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.

Guaraldi F, Di Nardo G, Tarani L, Bertelli L, Susca FC, Bagnulo R, Resta N.

Eur J Med Genet. 2017 Jul;60(7):380-384. doi: 10.1016/j.ejmg.2017.04.010. Epub 2017 Apr 18. Review.

PMID:
28434922
9.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

10.

Neurotrophins' Modulation by Olive Polyphenols.

Carito V, Ceccanti M, Tarani L, Ferraguti G, Chaldakov GN, Fiore M.

Curr Med Chem. 2016;23(28):3189-3197. Review.

PMID:
27356540
11.

TNF-α and IL-10 modulation induced by polyphenols extracted by olive pomace in a mouse model of paw inflammation.

Carito V, Ciafrè S, Tarani L, Ceccanti M, Natella F, Iannitelli A, Tirassa P, Chaldakov GN, Ceccanti M, Boccardo C, Fiore M.

Ann Ist Super Sanita. 2015;51(4):382-6. doi: 10.4415/ANN_15_04_21.

12.

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L.

Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11.

PMID:
26663529
13.

The use of piezosurgery in cranial surgery in children.

Ramieri V, Saponaro G, Lenzi J, Caporlingua F, Polimeni A, Silvestri A, Pizzuti A, Roggini M, Tarani L, Papoff P, Giancotti A, Castori M, Manganaro L, Cascone P; PECRAM Study Group.

J Craniofac Surg. 2015 May;26(3):840-2. doi: 10.1097/SCS.0000000000001574. Erratum in: J Craniofac Surg. 2015 Jul;26(5):e466. Piero, Cascone [corrected to Cascone, Piero].

PMID:
25974793
14.

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.

Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22.

15.

Detection of auto-antibodies to DAT in the serum: interactions with DAT genotype and psycho-stimulant therapy for ADHD.

Giana G, Romano E, Porfirio MC, D'Ambrosio R, Giovinazzo S, Troianiello M, Barlocci E, Travaglini D, Granstrem O, Pascale E, Tarani L, Curatolo P, Laviola G, Adriani W.

J Neuroimmunol. 2015 Jan 15;278:212-22. doi: 10.1016/j.jneuroim.2014.11.008. Epub 2014 Nov 18.

PMID:
25468771
16.

Prenatal genetic counseling in Klinefelter syndrome: comments on the article by Lalatta et al. [2013] and a proposal of a new approach.

Pimpolari L, Liberati N, Martini M, Colloridi F, Radicioni A, Duse M, Tarani L.

Am J Med Genet A. 2015 Feb;167A(2):450-4. doi: 10.1002/ajmg.a.36875. Epub 2014 Nov 26. No abstract available.

PMID:
25427439
17.

Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.

Morlino S, Castori M, Servadei F, Laino L, Silvestri E; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P.

Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):554-66. doi: 10.1002/bdra.23327. Epub 2014 Oct 31. Review.

PMID:
25360518
18.

Effects of olive leaf polyphenols on male mouse brain NGF, BDNF and their receptors TrkA, TrkB and p75.

Carito V, Venditti A, Bianco A, Ceccanti M, Serrilli AM, Chaldakov G, Tarani L, De Nicolò S, Fiore M.

Nat Prod Res. 2014;28(22):1970-84. doi: 10.1080/14786419.2014.918977. Epub 2014 May 27.

PMID:
24865115
19.

Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.

Nicita F, Verrotti A, Pruna D, Striano P, Capovilla G, Savasta S, Spartà MV, Parisi P, Parlapiano G, Tarani L, Spalice A.

Epilepsia. 2014 Jun;55(6):e60-6. doi: 10.1111/epi.12638. Epub 2014 May 9.

20.

Rhinocerebral zygomycosis with pansinusitis in a 14-year-old girl with type 1 diabetes: a case report and review of the literature.

di Coste A, Costantino F, Tarani L, Savastano V, Di Biasi C, Schiavi L, Ernesti I, Melengu T, Duse M.

Ital J Pediatr. 2013 Dec 10;39:77. doi: 10.1186/1824-7288-39-77. Review.

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