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Items: 20

1.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S.

Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Review.

PMID:
26865513
2.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669.

3.

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.

Prandini P, Pasquali A, Malerba G, Marostica A, Zusi C, Xumerle L, Muglia P, Da Ros L, Ratti E, Trabetti E, Pignatti PF; Italian Autism Network (ITAN)..

Psychiatr Genet. 2012 Aug;22(4):177-81. doi: 10.1097/YPG.0b013e32835185c9.

PMID:
22739633
4.

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.

Finelli P, Sirchia SM, Masciadri M, Crippa M, Recalcati MP, Rusconi D, Giardino D, Monti L, Cogliati F, Faravelli F, Natacci F, Zoccante L, Bernardina BD, Russo S, Larizza L.

Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16.

5.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.

PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173.

6.

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, Poustka F, Schlitt S, Freitag CM, Lee I, Muglia P; ITAN., Poot M, Staal W, de Jonge MV, Ophoff RA, Lewis C, Skuse D, Mandy W, Vassos E, Fossdal R, Magnusson P, Hreidarsson S, Saemundsen E, Stefansson H, Stefansson K, Collier D.

Am J Med Genet B Neuropsychiatr Genet. 2011 Sep;156B(6):633-9. doi: 10.1002/ajmg.b.31201.

PMID:
21656903
7.

Antidepressant and antipsychotic use in an Italian pediatric population.

Clavenna A, Andretta M, Pilati P, Dusi M, Gangemi M, Gattoni MB, Lombardo G, Zoccante L, Mezzalira L, Bonati M.

BMC Pediatr. 2011 May 23;11:40. doi: 10.1186/1471-2431-11-40.

8.

Increased left parietal volumes relate to delayed language development in autism: a structural mri study.

Zoccante L, Viviani A, Ferro A, Cerini R, Cerruti S, Rambaldelli G, Bellani M, Dusi N, Perlini C, Boscaini F, Pozzi Mucelli R, Tansella M, Dalla Bernardina B, Brambilla P.

Funct Neurol. 2010 Oct-Dec;25(4):217-21.

PMID:
21388583
9.

Infants versus older children fitted with cochlear implants: performance over 10 years.

Colletti L, Mandalà M, Zoccante L, Shannon RV, Colletti V.

Int J Pediatr Otorhinolaryngol. 2011 Apr;75(4):504-9. doi: 10.1016/j.ijporl.2011.01.005.

PMID:
21277638
10.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB.

Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Erratum in: Eur J Hum Genet. 2010 Oct;18(10):1171. Eur J Hum Genet. 2010 Feb;18(2):170. Moloney, Susan [added].

11.

Nonverbal cognitive abilities and auditory performance in children fitted with auditory brainstem implants: preliminary report.

Colletti L, Zoccante L.

Laryngoscope. 2008 Aug;118(8):1443-8. doi: 10.1097/MLG.0b013e318173a011.

PMID:
18496153
12.

Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases.

Darra F, Fiorini E, Zoccante L, Mastella L, Torniero C, Cortese S, Meneghello L, Fontana E, Bernardina BD.

Epilepsia. 2006;47 Suppl 5:31-5.

13.

Periventricular heterotopia in fragile X syndrome.

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R.

Neurology. 2006 Aug 22;67(4):713-5.

PMID:
16924033
14.

A case of partial biotinidase deficiency associated with autism.

Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L.

Child Neuropsychol. 2003 Sep;9(3):184-8.

PMID:
13680408
15.

Maximal aerobic power during running and cycling in obese and non-obese children.

Maffeis C, Schena F, Zaffanello M, Zoccante L, Schutz Y, Pinelli L.

Acta Paediatr. 1994 Jan;83(1):113-6.

PMID:
8193460
16.

Resting metabolic rate in six- to ten-year-old obese and nonobese children.

Maffeis C, Schutz Y, Micciolo R, Zoccante L, Pinelli L.

J Pediatr. 1993 Apr;122(4):556-62.

PMID:
8463900
17.

Meal-induced thermogenesis in lean and obese prepubertal children.

Maffeis C, Schutz Y, Zoccante L, Micciolo R, Pinelli L.

Am J Clin Nutr. 1993 Apr;57(4):481-5.

PMID:
8460601
18.

Meal-induced thermogenesis in obese children with or without familial history of obesity.

Maffeis C, Schutz Y, Zoccante L, Pinelli L.

Eur J Pediatr. 1993 Feb;152(2):128-31.

PMID:
8444220
19.

Basal energy expenditure in obese and normal weight schoolchildren.

Maffeis C, Micciolo R, Zoccante L, Zaffanello M, Pinelli L.

Acta Paediatr Scand. 1991 Dec;80(12):1145-9.

PMID:
1785286
20.

[Energy metabolism at rest and the respiratory quotient in obese and normal-weight prepubertal children].

Maffeis C, Zoccante L, Pinelli L.

Minerva Endocrinol. 1990 Oct-Dec;15(4):263-5. Italian.

PMID:
2099996
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