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Items: 1 to 50 of 219

1.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C.

Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26.

PMID:
30806792
2.

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, D'Arrigo S, Dieckmann A, Foster A, Gibney J, Hunter M, Milani D, Pantaleoni C, Roche E, Sherlock M, Springer A, White SM; Childhood Overgrowth Collaboration, Tatton-Brown K.

Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.

PMID:
30793471
3.

Role of physical exercise in the regulation of epigenetic mechanisms in inflammation, cancer, neurodegenerative diseases, and aging process.

Ferioli M, Zauli G, Maiorano P, Milani D, Mirandola P, Neri LM.

J Cell Physiol. 2019 Feb 14. doi: 10.1002/jcp.28304. [Epub ahead of print] Review.

PMID:
30767204
4.

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

Tolva G, Silipigni R, Quarenghi A, Vergani P, Guerneri S, Milani D.

J Obstet Gynaecol Res. 2019 Mar;45(3):705-708. doi: 10.1111/jog.13873. Epub 2018 Dec 13.

PMID:
30549132
5.

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Masciadri M, Ficcadenti A, Milani D, Cogliati F, Divizia MT, Larizza L, Russo S.

Front Neurol. 2018 Nov 27;9:967. doi: 10.3389/fneur.2018.00967. eCollection 2018.

6.

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Ciaccio C, Saletti V, D'Arrigo S, Esposito S, Alfei E, Moroni I, Tonduti D, Chiapparini L, Pantaleoni C, Milani D.

Eur J Med Genet. 2018 Dec 4. pii: S1769-7212(18)30424-5. doi: 10.1016/j.ejmg.2018.12.001. [Epub ahead of print]

PMID:
30528446
7.

A Survey on Pituitary Surgery in Italy.

Solari D, Zenga F, Angileri FF, Barbanera A, Berlucchi S, Bernucci C, Carapella C, Catapano D, Catapano G, Cavallo LM, D'Arrigo C, de Angelis M, Denaro L, Desogus N, Ferroli P, Fontanella MM, Galzio RJ, Gianfreda CD, Iacoangeli M, Lauretti L, Locatelli D, Locatelli M, Luglietto D, Mazzatenta D, Menniti A, Milani D, Nasi MT, Romano A, Ruggeri AG, Saladino A, Santonocito O, Schwarz A, Skrap M, Stefini R, Volpin L, Wembagher GC, Zoia C, Zona G, Cappabianca P.

World Neurosurg. 2019 Mar;123:e440-e449. doi: 10.1016/j.wneu.2018.11.186. Epub 2018 Nov 27.

PMID:
30500583
8.

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.

Paganini L, Hadi LA, Chetta M, Rovina D, Fontana L, Colapietro P, Bonaparte E, Pezzani L, Marchisio P, Tabano SM, Costanza J, Sirchia SM, Riboni L, Milani D, Miozzo M.

Clin Genet. 2019 Mar;95(3):368-374. doi: 10.1111/cge.13485. Epub 2018 Dec 26.

9.

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.

Ciaccio C, Scuvera G, Tucci A, Gentilin B, Baccarin M, Marchisio P, Avignone S, Milani D.

Cytogenet Genome Res. 2018;156(3):127-133. doi: 10.1159/000494532. Epub 2018 Nov 17. Review.

PMID:
30448833
10.

Satellite DNAs Unveil Clues about the Ancestry and Composition of B Chromosomes in Three Grasshopper Species.

Milani D, Bardella VB, Ferretti ABSM, Palacios-Gimenez OM, Melo AS, Moura RC, Loreto V, Song H, Cabral-de-Mello DC.

Genes (Basel). 2018 Oct 26;9(11). pii: E523. doi: 10.3390/genes9110523.

11.

Psychometric properties evaluation of the Psychological Empowerment Instrument in a Brazilian context.

Schumaher MLN, Milani D, Alexandre NMC.

J Nurs Manag. 2019 Mar;27(2):404-413. doi: 10.1111/jonm.12701. Epub 2018 Oct 16.

PMID:
30328171
12.

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

Pichiecchio A, Vitale G, Caporali C, Parazzini C, Milani D, Recalcati MP, D'Amico L, Signorini S, Balottin U, Bastianello S.

BMC Med Genomics. 2018 Sep 29;11(1):87. doi: 10.1186/s12920-018-0405-3.

13.

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.

Bestetti I, Sironi A, Catusi I, Mariani M, Giardino D, Manoukian S, Milani D, Larizza L, Castronovo C, Finelli P.

Mol Cytogenet. 2018 Sep 19;11:53. doi: 10.1186/s13039-018-0401-5. eCollection 2018.

14.

F13A1 Gene Variant (V34L) and Residual Circulating FXIIIA Levels Predict Short- and Long-Term Mortality in Acute Myocardial Infarction after Coronary Angioplasty.

Ansani L, Marchesini J, Pestelli G, Luisi GA, Scillitani G, Longo G, Milani D, Serino ML, Tisato V, Gemmati D.

Int J Mol Sci. 2018 Sep 14;19(9). pii: E2766. doi: 10.3390/ijms19092766.

15.

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.

Fontana L, Bedeschi MF, Maitz S, Cereda A, Faré C, Motta S, Seresini A, D'Ursi P, Orro A, Pecile V, Calvello M, Selicorni A, Lalatta F, Milani D, Sirchia SM, Miozzo M, Tabano S.

Epigenetics. 2018;13(9):897-909. doi: 10.1080/15592294.2018.1514230. Epub 2018 Oct 21.

16.

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

Rizzo A, Alfei E, Zibordi F, Saletti V, Zorzi G, Freri E, Estienne M, Girgenti V, D'Arrigo S, Esposito S, Buldrini B, Moroni I, Milani D, Granata T, Ardissone A, Eoli M, Molteni B, Bigoni S, Pantaleoni C, Nardocci N, Sciacca FL.

Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):557-562. doi: 10.1002/ajmg.b.32649. Epub 2018 Aug 14.

PMID:
30105822
17.

Eliminating the VGlut2-Dependent Glutamatergic Transmission of Parvalbumin-Expressing Neurons Leads to Deficits in Locomotion and Vocalization, Decreased Pain Sensitivity, and Increased Dominance.

Roccaro-Waldmeyer DM, Girard F, Milani D, Vannoni E, Prétôt L, Wolfer DP, Celio MR.

Front Behav Neurosci. 2018 Jul 18;12:146. doi: 10.3389/fnbeh.2018.00146. eCollection 2018.

18.

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Alari V, Russo S, Terragni B, Ajmone PF, Sironi A, Catusi I, Calzari L, Concolino D, Marotta R, Milani D, Giardino D, Mantegazza M, Gervasini C, Finelli P, Larizza L.

Stem Cell Res. 2018 Jul;30:130-140. doi: 10.1016/j.scr.2018.05.019. Epub 2018 May 30.

19.

[Obstacles to return to work: Translation and cross-cultural adaptation of the questionnaire to the Brazilian context].

Milani D, Souza AC, Hirayama MS, Alexandre NMC.

Cien Saude Colet. 2018 May;23(5):1387-1401. doi: 10.1590/1413-81232018235.17152016. Portuguese.

20.

Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature.

Gatti M, Tolva G, Bergamaschi S, Giavoli C, Esposito S, Marchisio P, Milani D.

J Pediatr Adolesc Gynecol. 2018 Oct;31(5):533-535. doi: 10.1016/j.jpag.2018.04.003. Epub 2018 May 3. Review.

PMID:
29730431
21.

Physical training interventions for children and teenagers affected by acute lymphoblastic leukemia and related treatment impairments.

Simioni C, Zauli G, Martelli AM, Vitale M, Ultimo S, Milani D, Neri LM.

Oncotarget. 2018 Mar 30;9(24):17199-17209. doi: 10.18632/oncotarget.24762. eCollection 2018 Mar 30. Review.

22.

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR.

Am J Med Genet A. 2018 Jun;176(6):1427-1431. doi: 10.1002/ajmg.a.38704. Epub 2018 Apr 16.

PMID:
29663667
23.

Bioaccumulation of sediment-associated substituted phenylamine antioxidants in Tubifex tubifex and Lampsilis siliquoidea.

Prosser RS, Gillis PL, Milani D, Holman EAM, Ikert H, Schissler D, Toito J, Palabrica V, Parrott JL, Bartlett AJ, Balakrishnan VK.

Ecotoxicology. 2018 Jul;27(5):578-589. doi: 10.1007/s10646-018-1931-7. Epub 2018 Apr 11.

PMID:
29644543
24.

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Ajmone PF, Avignone S, Gervasini C, Giacobbe A, Monti F, Costantino A, Esposito S, Marchisio P, Triulzi F, Milani D.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):406-415. doi: 10.1002/ajmg.b.32628. Epub 2018 Apr 10.

PMID:
29637745
25.

Comparison of neuroprotective efficacy of poly-arginine R18 and R18D (D-enantiomer) peptides following permanent middle cerebral artery occlusion in the Wistar rat and in vitro toxicity studies.

Milani D, Bakeberg MC, Cross JL, Clark VW, Anderton RS, Blacker DJ, Knuckey NW, Meloni BP.

PLoS One. 2018 Mar 7;13(3):e0193884. doi: 10.1371/journal.pone.0193884. eCollection 2018.

26.

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F.

J Hum Genet. 2018 Mar;63(3):391. doi: 10.1038/s10038-017-0369-8. Epub 2018 Feb 7.

PMID:
29479078
27.

Assessment of the praxis circuit in glioma surgery to reduce the incidence of postoperative and long-term apraxia: a new intraoperative test.

Rossi M, Fornia L, Puglisi G, Leonetti A, Zuccon G, Fava E, Milani D, Casarotti A, Riva M, Pessina F, Cerri G, Bello L.

J Neurosurg. 2018 Feb 1:1-11. doi: 10.3171/2017.7.JNS17357. [Epub ahead of print]

PMID:
29473778
28.

Perthes disease: A new finding in Floating-Harbor syndrome.

Milani D, Scuvera G, Gatti M, Tolva G, Bonarrigo F, Esposito S, Gervasini C.

Am J Med Genet A. 2018 Mar;176(3):703-706. doi: 10.1002/ajmg.a.38605. Epub 2018 Jan 31.

PMID:
29383823
29.

Uncovering the evolutionary history of neo-XY sex chromosomes in the grasshopper Ronderosia bergii (Orthoptera, Melanoplinae) through satellite DNA analysis.

Palacios-Gimenez OM, Milani D, Lemos B, Castillo ER, Martí DA, Ramos E, Martins C, Cabral-de-Mello DC.

BMC Evol Biol. 2018 Jan 8;18(1):2. doi: 10.1186/s12862-017-1113-x.

30.

Comparative toxicity of azo dyes to two infaunal organisms (Hexagenia spp. and Tubifex tubifex) in spiked-sediment exposures.

Milani D, Bartlett AJ, de Solla SR, Parrott JL, Intini KD, Legault D, Unsworth J, Balakrishnan VK.

Environ Sci Pollut Res Int. 2018 Mar;25(7):6937-6950. doi: 10.1007/s11356-017-0993-z. Epub 2017 Dec 22.

PMID:
29273984
31.

Endoscopic Transseptal Approach with Posterior Nasal Spine Removal: A Wide Surgical Corridor to the Craniovertebral Junction and Odontoid: Technical Note and Case Series.

Rossini Z, Milani D, Nicolosi F, Costa F, Lasio GB, D'Angelo VA, Fornari M, Colombo G.

World Neurosurg. 2018 Feb;110:373-385. doi: 10.1016/j.wneu.2017.11.153. Epub 2017 Dec 2.

PMID:
29203314
32.

Delayed 2-h post-stroke administration of R18 and NA-1 (TAT-NR2B9c) peptides after permanent and/or transient middle cerebral artery occlusion in the rat.

Milani D, Cross JL, Anderton RS, Blacker DJ, Knuckey NW, Meloni BP.

Brain Res Bull. 2017 Oct;135:62-68. doi: 10.1016/j.brainresbull.2017.09.012. Epub 2017 Sep 28.

PMID:
28964774
33.

The satellite DNA AflaSAT-1 in the A and B chromosomes of the grasshopper Abracris flavolineata.

Milani D, Ramos É, Loreto V, Martí DA, Cardoso AL, de Moraes KCM, Martins C, Cabral-de-Mello DC.

BMC Genet. 2017 Aug 29;18(1):81. doi: 10.1186/s12863-017-0548-9.

34.

VITOM 3D: Preliminary Experience in Cranial Surgery.

Rossini Z, Cardia A, Milani D, Lasio GB, Fornari M, D'Angelo V.

World Neurosurg. 2017 Nov;107:663-668. doi: 10.1016/j.wneu.2017.08.083. Epub 2017 Aug 24.

PMID:
28843760
35.

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Ferrari L, Scuvera G, Tucci A, Bianchessi D, Rusconi F, Menni F, Battaglioli E, Milani D, Riva P.

Hum Genet. 2017 Oct;136(10):1329-1339. doi: 10.1007/s00439-017-1832-5. Epub 2017 Aug 3.

PMID:
28776093
36.

Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication.

Rossini Z, Milani D, Costa F, Castellani C, Lasio G, Fornari M.

World Neurosurg. 2017 Oct;106:1057.e9-1057.e15. doi: 10.1016/j.wneu.2017.07.112. Epub 2017 Jul 25. Review.

PMID:
28754644
37.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F.

J Hum Genet. 2017 Nov;62(11):1001-1004. doi: 10.1038/jhg.2017.78. Epub 2017 Jul 27. Erratum in: J Hum Genet. 2018 Mar;63(3):391.

PMID:
28747691
38.

Effect of substituted phenylamine antioxidants on three life stages of the freshwater mussel Lampsilis siliquoidea.

Prosser RS, Gillis PL, Holman EAM, Schissler D, Ikert H, Toito J, Gilroy E, Campbell S, Bartlett AJ, Milani D, Parrott JL, Balakrishnan VK.

Environ Pollut. 2017 Oct;229:281-289. doi: 10.1016/j.envpol.2017.05.086. Epub 2017 Jun 7.

PMID:
28601017
39.

Risk factors associated with relapse of eyelid basal cell carcinoma: results from a retrospective study of 142 patients.

Fatigato G, Capitani S, Milani D, Grassilli S, Alameen AA, Candiani M, Riberti C, Galasso M, Previati M.

Eur J Dermatol. 2017 Aug 1;27(4):363-368. doi: 10.1684/ejd.2017.3026.

PMID:
28524055
40.

Assessment of the Neuroprotective Effects of Arginine-Rich Protamine Peptides, Poly-Arginine Peptides (R12-Cyclic, R22) and Arginine-Tryptophan-Containing Peptides Following In Vitro Excitotoxicity and/or Permanent Middle Cerebral Artery Occlusion in Rats.

Meloni BP, Milani D, Cross JL, Clark VW, Edwards AB, Anderton RS, Blacker DJ, Knuckey NW.

Neuromolecular Med. 2017 Sep;19(2-3):271-285. doi: 10.1007/s12017-017-8441-2. Epub 2017 May 18.

PMID:
28523591
41.

Variation in the toxicity of sediment-associated substituted phenylamine antioxidants to an epibenthic (Hyalella azteca) and endobenthic (Tubifex tubifex) invertebrate.

Prosser RS, Bartlett AJ, Milani D, Holman EAM, Ikert H, Schissler D, Toito J, Parrott JL, Gillis PL, Balakrishnan VK.

Chemosphere. 2017 Aug;181:250-258. doi: 10.1016/j.chemosphere.2017.04.066. Epub 2017 Apr 17.

PMID:
28448906
42.

Fragile X syndrome: a review of clinical and molecular diagnoses.

Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S.

Ital J Pediatr. 2017 Apr 19;43(1):39. doi: 10.1186/s13052-017-0355-y. Review.

43.

Toxicity of sediment-associated substituted phenylamine antioxidants on the early life stages of Pimephales promelas and a characterization of effects on freshwater organisms.

Prosser RS, Parrott JL, Galicia M, Shires K, Sullivan C, Toito J, Bartlett AJ, Milani D, Gillis PL, Balakrishnan VK.

Environ Toxicol Chem. 2017 Oct;36(10):2730-2738. doi: 10.1002/etc.3828. Epub 2017 Jun 16.

PMID:
28418159
44.

[Health literacy: translation and validation of a research instrument on health promotion in Brazil].

Quemelo PR, Milani D, Bento VF, Vieira ER, Zaia JE.

Cad Saude Publica. 2017 Mar 30;33(2):e00179715. doi: 10.1590/0102-311X00179715. Portuguese.

45.

ZC4H2 deletions can cause severe phenotype in female carriers.

Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C.

Am J Med Genet A. 2017 May;173(5):1358-1363. doi: 10.1002/ajmg.a.38155. Epub 2017 Mar 27.

PMID:
28345801
46.

The U2 snDNA Is a Useful Marker for B Chromosome Detection and Frequency Estimation in the Grasshopper Abracris flavolineata.

Milani D, Palacios-Gimenez OM, Cabral-de-Mello DC.

Cytogenet Genome Res. 2017;151(1):36-40. doi: 10.1159/000458468. Epub 2017 Mar 2.

PMID:
28249262
47.

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D.

Am J Med Genet A. 2017 Mar;173(3):638-646. doi: 10.1002/ajmg.a.38054. Epub 2016 Dec 25. Review.

PMID:
28019079
48.

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D.

Eur J Med Genet. 2017 Mar;60(3):159-162. doi: 10.1016/j.ejmg.2016.12.006. Epub 2016 Dec 20.

PMID:
28007608
49.

A case report with the peculiar concomitance of 2 different genetic syndromes.

Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M.

Medicine (Baltimore). 2016 Dec;95(49):e5567. Review.

50.

7p22.1 microduplication syndrome: Refinement of the critical region.

Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D.

Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16.

PMID:
27866048

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