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Items: 1 to 50 of 146

1.

The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects.

Riva V, Mozzi A, Forni D, Trezzi V, Giorda R, Riva S, Villa M, Sironi M, Cagliani R, Mascheretti S.

Neuropsychologia. 2018 May 24. pii: S0028-3932(18)30220-3. doi: 10.1016/j.neuropsychologia.2018.05.021. [Epub ahead of print]

PMID:
29803723
2.

Pain exposure associates with telomere length erosion in very preterm infants.

Provenzi L, Giorda R, Fumagalli M, Pozzoli U, Morandi F, Scotto di Minico G, Mosca F, Borgatti R, Montirosso R.

Psychoneuroendocrinology. 2018 Mar;89:113-119. doi: 10.1016/j.psyneuen.2018.01.009. Epub 2018 Feb 2.

PMID:
29396320
3.

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.

J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29.

4.

From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth.

Fumagalli M, Provenzi L, De Carli P, Dessimone F, Sirgiovanni I, Giorda R, Cinnante C, Squarcina L, Pozzoli U, Triulzi F, Brambilla P, Borgatti R, Mosca F, Montirosso R.

PLoS One. 2018 Jan 5;13(1):e0190602. doi: 10.1371/journal.pone.0190602. eCollection 2018.

5.

Telomere Length in Preterm Infants: A Promising Biomarker of Early Adversity and Care in the Neonatal Intensive Care Unit?

Provenzi L, Scotto di Minico G, Giorda R, Montirosso R.

Front Endocrinol (Lausanne). 2017 Oct 31;8:295. doi: 10.3389/fendo.2017.00295. eCollection 2017.

6.

The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.

Trezzi V, Forni D, Giorda R, Villa M, Molteni M, Marino C, Mascheretti S.

J Hum Genet. 2017 Nov;62(11):949-955. doi: 10.1038/jhg.2017.80. Epub 2017 Aug 3.

PMID:
29066855
7.

Maternal Sensitivity Buffers the Association between SLC6A4 Methylation and Socio-Emotional Stress Response in 3-Month-Old Full Term, but not very Preterm Infants.

Provenzi L, Fumagalli M, Giorda R, Morandi F, Sirgiovanni I, Pozzoli U, Mosca F, Borgatti R, Montirosso R.

Front Psychiatry. 2017 Sep 13;8:171. doi: 10.3389/fpsyt.2017.00171. eCollection 2017.

8.

From CNTNAP2 to Early Expressive Language in Infancy: The Mediation Role of Rapid Auditory Processing.

Riva V, Cantiani C, Benasich AA, Molteni M, Piazza C, Giorda R, Dionne G, Marino C.

Cereb Cortex. 2018 Jun 1;28(6):2100-2108. doi: 10.1093/cercor/bhx115.

PMID:
28498932
9.

SLC6A4 methylation as an epigenetic marker of life adversity exposures in humans: A systematic review of literature.

Provenzi L, Giorda R, Beri S, Montirosso R.

Neurosci Biobehav Rev. 2016 Dec;71:7-20. doi: 10.1016/j.neubiorev.2016.08.021. Epub 2016 Aug 24. Review.

PMID:
27565518
10.

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

Romaniello R, Marelli S, Giorda R, Bedeschi MF, Bonaglia MC, Arrigoni F, Triulzi F, Bassi MT, Borgatti R.

J Child Neurol. 2017 Jan;32(1):60-71. doi: 10.1177/0883073816664668. Epub 2016 Sep 29.

PMID:
27683483
11.

Partial deletion of DEPDC5 in a child with focal epilepsy.

Bonaglia MC, Giorda R, Epifanio R, Bertuzzo S, Marelli S, Gerard M, Andrieux J, Zanotta N, Zucca C.

Epilepsia Open. 2016 Aug 25;1(3-4):140-144. doi: 10.1002/epi4.12012. eCollection 2016 Dec.

12.

Complex effects of dyslexia risk factors account for ADHD traits: evidence from two independent samples.

Mascheretti S, Trezzi V, Giorda R, Boivin M, Plourde V, Vitaro F, Brendgen M, Dionne G, Marino C.

J Child Psychol Psychiatry. 2017 Jan;58(1):75-82. doi: 10.1111/jcpp.12612. Epub 2016 Aug 8.

PMID:
27501527
13.

SLC6A4 promoter region methylation and socio-emotional stress response in very preterm and full-term infants.

Montirosso R, Provenzi L, Giorda R, Fumagalli M, Morandi F, Sirgiovanni I, Pozzoli U, Grunau R, Oberlander TF, Mosca F, Borgatti R.

Epigenomics. 2016 Jul;8(7):895-907. doi: 10.2217/epi-2016-0010. Epub 2016 Jul 6.

PMID:
27381173
14.

Serotonin Transporter Gene (SLC6A4) Methylation Associates With Neonatal Intensive Care Unit Stay and 3-Month-Old Temperament in Preterm Infants.

Montirosso R, Provenzi L, Fumagalli M, Sirgiovanni I, Giorda R, Pozzoli U, Beri S, Menozzi G, Tronick E, Morandi F, Mosca F, Borgatti R.

Child Dev. 2016 Jan-Feb;87(1):38-48. doi: 10.1111/cdev.12492.

PMID:
26822441
15.

Effect of family structure and TPH2 G-703T on the stability of dysregulation profile throughout adolescence.

Nobile M, Bianchi V, Monzani D, Beri S, Bellina M, Greco A, Colombo P, Tesei A, Caldirola D, Giorda R, Perna G, Molteni M.

J Affect Disord. 2016 Jan 15;190:576-584. doi: 10.1016/j.jad.2015.10.057. Epub 2015 Nov 4.

PMID:
26583347
16.

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C.

Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9. eCollection 2015.

17.

Pain-related stress during the Neonatal Intensive Care Unit stay and SLC6A4 methylation in very preterm infants.

Provenzi L, Fumagalli M, Sirgiovanni I, Giorda R, Pozzoli U, Morandi F, Beri S, Menozzi G, Mosca F, Borgatti R, Montirosso R.

Front Behav Neurosci. 2015 Apr 21;9:99. doi: 10.3389/fnbeh.2015.00099. eCollection 2015.

18.

An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia.

Mascheretti S, Bureau A, Trezzi V, Giorda R, Marino C.

Hum Genet. 2015 Jul;134(7):749-60. doi: 10.1007/s00439-015-1555-4. Epub 2015 Apr 28.

PMID:
25916574
19.

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Decio A, Tonduti D, Pichiecchio A, Vetro A, Ciccone R, Limongelli I, Giorda R, Caffi L, Balottin U, Zuffardi O, Orcesi S.

Am J Med Genet A. 2015 Apr;167A(4):810-5. doi: 10.1002/ajmg.a.36907. Epub 2015 Feb 23.

PMID:
25706114
20.

GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia.

Mascheretti S, Facoetti A, Giorda R, Beri S, Riva V, Trezzi V, Cellino MR, Marino C.

Psychiatr Genet. 2015 Feb;25(1):9-20. doi: 10.1097/YPG.0000000000000068.

PMID:
25426763
21.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5.

22.

GRIN2B predicts attention problems among disadvantaged children.

Riva V, Battaglia M, Nobile M, Cattaneo F, Lazazzera C, Mascheretti S, Giorda R, Mérette C, Émond C, Maziade M, Marino C.

Eur Child Adolesc Psychiatry. 2015 Jul;24(7):827-36. doi: 10.1007/s00787-014-0627-7. Epub 2014 Oct 16.

PMID:
25316095
23.

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

Bonaglia MC, Giorda R, Zanini S.

Mol Cytogenet. 2014 Aug 5;7:53. doi: 10.1186/1755-8166-7-53. eCollection 2014.

24.

The role of DCDC2 genetic variants and low socioeconomic status in vulnerability to attention problems.

Riva V, Marino C, Giorda R, Molteni M, Nobile M.

Eur Child Adolesc Psychiatry. 2015 Mar;24(3):309-18. doi: 10.1007/s00787-014-0580-5. Epub 2014 Jul 11.

PMID:
25012462
25.

The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia.

Marino C, Scifo P, Della Rosa PA, Mascheretti S, Facoetti A, Lorusso ML, Giorda R, Consonni M, Falini A, Molteni M, Gruen JR, Perani D.

Cortex. 2014 Aug;57:227-43. doi: 10.1016/j.cortex.2014.04.016. Epub 2014 May 9.

26.

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC.

Eur J Med Genet. 2014 Jul;57(7):334-8. doi: 10.1016/j.ejmg.2014.04.009. Epub 2014 Apr 26.

PMID:
24780630
27.

KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia.

Mascheretti S, Riva V, Giorda R, Beri S, Lanzoni LF, Cellino MR, Marino C.

J Hum Genet. 2014 Apr;59(4):189-97. doi: 10.1038/jhg.2013.141. Epub 2014 Jan 16.

PMID:
24430574
28.

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

Baroncini A, Bertuzzo S, Quarantini R, Ricciardelli P, Giorda R, Bonaglia MC.

Mol Cytogenet. 2013 Nov 8;6(1):49. doi: 10.1186/1755-8166-6-49.

29.

Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence.

Nobile M, Greco A, Perna G, Colombo P, Bianchi V, Bellina M, Giorda R, Monzani D, Carlet O, Griez E, Molteni M.

Epidemiol Psychiatr Sci. 2014 Dec;23(4):399-409. doi: 10.1017/S2045796013000565. Epub 2013 Oct 22.

PMID:
24148106
30.

An assessment of gene-by-environment interactions in developmental dyslexia-related phenotypes.

Mascheretti S, Bureau A, Battaglia M, Simone D, Quadrelli E, Croteau J, Cellino MR, Giorda R, Beri S, Maziade M, Marino C.

Genes Brain Behav. 2013 Feb;12(1):47-55. doi: 10.1111/gbb.12000. Epub 2012 Nov 24.

31.

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R.

Eur J Med Genet. 2013 Jan;56(1):54-8. doi: 10.1016/j.ejmg.2012.10.002. Epub 2012 Oct 18.

PMID:
23085304
32.

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Beri S, Bonaglia MC, Giorda R.

Eur J Hum Genet. 2013 Jul;21(7):757-61. doi: 10.1038/ejhg.2012.235. Epub 2012 Oct 17.

33.

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

Rossi E, Giorda R, Bonaglia MC, Candia SD, Grechi E, Franzese A, Soli F, Rivieri F, Patricelli MG, Saccilotto D, Bonfante A, Giglio S, Beri S, Rocchi M, Zuffardi O.

PLoS One. 2012;7(6):e39180. doi: 10.1371/journal.pone.0039180. Epub 2012 Jun 14.

34.

Influence of the OPRM1 gene polymorphism upon children's degree of withdrawal and brain activation in response to facial expressions.

Bertoletti E, Zanoni A, Giorda R, Battaglia M.

Dev Cogn Neurosci. 2012 Jan;2(1):103-9. doi: 10.1016/j.dcn.2011.05.001. Epub 2011 May 12.

35.

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L.

Biopreserv Biobank. 2012 Feb;10(1):29-36. doi: 10.1089/bio.2011.0037. Epub 2011 Dec 13.

PMID:
24849751
36.

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

Giorda R, Beri S, Bonaglia MC, Spaccini L, Scelsa B, Manolakos E, Della Mina E, Ciccone R, Zuffardi O.

Am J Med Genet A. 2011 Nov;155A(11):2681-7. doi: 10.1002/ajmg.a.34248. Epub 2011 Sep 30.

PMID:
21965167
37.

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

Broli M, Bisulli F, Mastrangelo M, Fontana E, Fiocchi I, Zucca C, Bonaglia MC, Buono S, Musumeci SA, Romano C, Reitano S, Savio M, Vitello GA, Bernardi B, Cevolani D, Agati R, Poda R, Gallassi R, Giorda R, Zuffardi O, Bernardina BD, Seri M, Tinuper P.

Epileptic Disord. 2011 Sep;13(3):240-51. doi: 10.1684/epd.2011.0462.

38.

Cerebral responses to emotional expressions and the development of social anxiety disorder: a preliminary longitudinal study.

Battaglia M, Zanoni A, Taddei M, Giorda R, Bertoletti E, Lampis V, Scaini S, Cappa S, Tettamanti M.

Depress Anxiety. 2012 Jan;29(1):54-61. doi: 10.1002/da.20896. Epub 2011 Sep 2.

PMID:
21898716
39.

DCDC2 genetic variants and susceptibility to developmental dyslexia.

Marino C, Meng H, Mascheretti S, Rusconi M, Cope N, Giorda R, Molteni M, Gruen JR.

Psychiatr Genet. 2012 Feb;22(1):25-30. doi: 10.1097/YPG.0b013e32834acdb2.

40.

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. Epub 2011 Jul 14.

41.

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G.

Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25.

PMID:
21708297
42.

XX males SRY negative: a confirmed cause of infertility.

Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O.

J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7.

43.

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.

Wischmeijer A, Magini P, Giorda R, Gnoli M, Ciccone R, Cecconi L, Franzoni E, Mazzanti L, Romeo G, Zuffardi O, Seri M.

Mol Syndromol. 2011 Jan;1(4):176-184. Epub 2010 Nov 25.

44.

Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of developmental dyslexia.

Marino C, Mascheretti S, Riva V, Cattaneo F, Rigoletto C, Rusconi M, Gruen JR, Giorda R, Lazazzera C, Molteni M.

Behav Genet. 2011 Jan;41(1):67-76. doi: 10.1007/s10519-010-9412-7. Epub 2010 Nov 3.

45.

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.

Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP.

J Med Genet. 2011 Jan;48(1):48-54. doi: 10.1136/jmg.2010.079426. Epub 2010 Oct 23.

46.

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM.

Hum Mutat. 2010 Dec;31(12):1352-9. doi: 10.1002/humu.21378. Epub 2010 Nov 9.

47.

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O.

Eur J Hum Genet. 2010 Dec;18(12):1302-9. doi: 10.1038/ejhg.2010.115. Epub 2010 Jul 21.

48.

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Resta N, Giorda R, Bagnulo R, Beri S, Della Mina E, Stella A, Piglionica M, Susca FC, Guanti G, Zuffardi O, Ciccone R.

Hum Genet. 2010 Oct;128(4):373-82. doi: 10.1007/s00439-010-0859-7. Epub 2010 Jul 11.

PMID:
20623358
49.

Refining the phenotype associated with MEF2C haploinsufficiency.

Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Dalla Bernardina B, Zuffardi O, Van Esch H.

Clin Genet. 2010 Nov;78(5):471-7. doi: 10.1111/j.1399-0004.2010.01413.x.

PMID:
20412115
50.

COMT Val158Met polymorphism and socioeconomic status interact to predict attention deficit/hyperactivity problems in children aged 10-14.

Nobile M, Rusconi M, Bellina M, Marino C, Giorda R, Carlet O, Vanzin L, Molteni M, Battaglia M.

Eur Child Adolesc Psychiatry. 2010 Jul;19(7):549-57. doi: 10.1007/s00787-009-0080-1. Epub 2009 Nov 28.

PMID:
19946720

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