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Items: 1 to 50 of 190

1.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PMID:
31585109
2.

Efficacy of a new chemical device to minimize microbial contamination along implant-abutment connection: an in vitro study.

DENTAL SUPPLEMENT, Oberti L, Gabrione F, Greco G, Severino M.

J Biol Regul Homeost Agents. 2019 May-Jun;33(3 Suppl. 1):161-167.

PMID:
31538463
3.

The role of implant-abutment connection in preventing bacterial leakage: a review.

DENTAL SUPPLEMENT, Candotto V, Gabrione F, Oberti L, Lento D, Severino M.

J Biol Regul Homeost Agents. 2019 May-Jun;33(3 Suppl. 1):129-134. Review.

PMID:
31538459
4.

Chlorhexidine gel used as antiseptic in periodontal pockets.

DENTAL SUPPLEMENT, Mummolo S, Severino M, Campanella V, Barlattani A Jr, Quinzi V, Marchetti E.

J Biol Regul Homeost Agents. 2019 May-Jun;33(3 Suppl. 1):83-88.

PMID:
31538453
5.

Periodontal disease in subjects suffering from coronary heart disease.

DENTAL SUPPLEMENT, Mummolo S, Severino M, Campanella V, Barlattani A Jr, Quinzi V, Marchetti E.

J Biol Regul Homeost Agents. 2019 May-Jun;33(3 Suppl. 1):73-82.

PMID:
31538452
6.

Modified bonded acrylic expander in patient with anterior crossbite and pseudo-class III.

DENTAL SUPPLEMENT, Greco M, Gatto R, Caruso S, Severino M.

J Biol Regul Homeost Agents. 2019 May-Jun;33(3 Suppl. 1):63-72.

PMID:
31538451
7.

Comparative analysis of cleaning ability of two rotary instrument systems: Mtwo and ProTaper® universal. An in vitro scanning electron microscopic study.

DENTAL SUPPLEMENT, Severino M, Libonati A, Di Taranto V, Montemurro E, Campanella V.

J Biol Regul Homeost Agents. 2019 May-Jun;33(3 Suppl. 1):51-61.

PMID:
31538450
8.

Early Pain Exposure Influences Functional Brain Connectivity in Very Preterm Neonates.

Tortora D, Severino M, Di Biase C, Malova M, Parodi A, Minghetti D, Traggiai C, Uccella S, Boeri L, Morana G, Rossi A, Ramenghi LA.

Front Neurosci. 2019 Aug 23;13:899. doi: 10.3389/fnins.2019.00899. eCollection 2019.

9.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
10.

Poor oral habits and malocclusions after usage of orthodontic pacifiers: an observational study on 3-5 years old children.

Caruso S, Nota A, Darvizeh A, Severino M, Gatto R, Tecco S.

BMC Pediatr. 2019 Aug 22;19(1):294. doi: 10.1186/s12887-019-1668-3.

11.

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM.

Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247.

12.

Cerebral blood flow in a case of typical aura without headache.

Sansone M, Marinelli G, Piccotti E, Severino M, Nobili L.

J Neurol. 2019 Aug 2. doi: 10.1007/s00415-019-09487-7. [Epub ahead of print] No abstract available.

PMID:
31375989
13.

Punctate white matter lesions of preterm infants: Risk factor analysis.

Parodi A, Malova M, Cardiello V, Raffa S, Re M, Calevo MG, Severino M, Tortora D, Morana G, Rossi A, Ramenghi LA.

Eur J Paediatr Neurol. 2019 Jun 22. pii: S1090-3798(19)30025-X. doi: 10.1016/j.ejpn.2019.06.003. [Epub ahead of print]

PMID:
31307922
14.

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.

Giacomini T, Pisciotta L, Prato G, Meola I, Zara F, Fiorillo C, Baratto S, Severino M, De Grandis E, Mancardi MM.

Seizure. 2019 Aug;70:56-58. doi: 10.1016/j.seizure.2019.06.029. Epub 2019 Jun 27. No abstract available.

PMID:
31279168
15.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Scala M, Brigati G, Fiorillo C, Nesti C, Rubegni A, Pedemonte M, Bruno C, Severino M, Derchi M, Minetti C, Santorelli FM.

Neurogenetics. 2019 Aug;20(3):165-172. doi: 10.1007/s10048-019-00582-5. Epub 2019 Jul 2.

PMID:
31267352
16.

Posterior Fossa Malformations.

Severino M, Huisman TAGM.

Neuroimaging Clin N Am. 2019 Aug;29(3):367-383. doi: 10.1016/j.nic.2019.03.008. Epub 2019 May 2. Review.

PMID:
31256860
17.

Analysis of errors in following the rapid maxillary expansion activation protocol: An observational study.

Nota A, Tecco S, Caruso S, Severino M, Gatto R, Baldini A.

Eur J Paediatr Dent. 2019 Jun;20(2):116-118. doi: 10.23804/ejpd.2019.20.02.06.

18.

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Scala M, Traverso M, Capra V, Vari MS, Severino M, Grossi S, Zara F, Striano P, Minetti C.

Neuropediatrics. 2019 Aug;50(4):268-270. doi: 10.1055/s-0039-1688954. Epub 2019 May 28. No abstract available.

PMID:
31137068
19.

Large local reactions to Hymenoptera stings: Outcome of re-stings in real life.

Bilò MB, Martini M, Pravettoni V, Bignardi D, Bonadonna P, Cortellini G, Kosinska M, Macchia D, Mauro M, Meucci E, Nittner-Marszalska M, Patella V, Pio R, Quercia O, Reccardini F, Ridolo E, Rudenko M, Severino M.

Allergy. 2019 May 10. doi: 10.1111/all.13863. [Epub ahead of print]

PMID:
31074868
20.

Advanced MR imaging and 18F-DOPA PET characteristics of H3K27M-mutant and wild-type pediatric diffuse midline gliomas.

Piccardo A, Tortora D, Mascelli S, Severino M, Piatelli G, Consales A, Pescetto M, Biassoni V, Schiavello E, Massollo M, Verrico A, Milanaccio C, Garrè ML, Rossi A, Morana G.

Eur J Nucl Med Mol Imaging. 2019 Jul;46(8):1685-1694. doi: 10.1007/s00259-019-04333-4. Epub 2019 Apr 27.

PMID:
31030232
21.

The features of the m.10197G>A mtDNA mutation.

Severino M, Nesti C, Rubegni A, Tolomeo D, Santorelli FM.

J Neurol Sci. 2019 May 15;400:184-185. doi: 10.1016/j.jns.2019.04.005. Epub 2019 Apr 4. No abstract available.

PMID:
30978516
22.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium, Nigro V, Capra V.

Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1.

PMID:
30936465
23.

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

Uccella S, Accogli A, Tortora D, Mancardi MM, Nobili L, Berloco B, Morana G, Striano P, Capra V, Srour M, Saint-Martine C, Rossi A, Severino M.

J Neurol. 2019 May;266(5):1167-1181. doi: 10.1007/s00415-019-09247-7. Epub 2019 Feb 22.

PMID:
30796522
24.

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.

Tolomeo D, Rubegni A, Severino M, Pochiero F, Bruno C, Cassandrini D, Madeo A, Doccini S, Pedemonte M, Rossi A, D'Amore F, Donati MA, Di Rocco M, Santorelli FM, Nesti C.

J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6.

PMID:
30776730
25.

Asymmetric cavernous sinus enlargement: a novel finding in Sturge-Weber syndrome.

Pasquini L, Tortora D, Manunza F, Rossi Espagnet MC, Figà-Talamanca L, Morana G, Occella C, Rossi A, Severino M.

Neuroradiology. 2019 May;61(5):595-602. doi: 10.1007/s00234-019-02182-4. Epub 2019 Feb 12.

PMID:
30747269
26.

Corrigendum to "Neuron and neuroblast numbers and cytogenesis in the dentate gyrus of aged APPswe/PS1dE9transgenic mice: Effect of long-term treatment with paroxetine" [Neurobiol Dis. 2017; 104: 50-60].

Olesen LØ, Sivasaravanaparan M, Severino M, Babcock AA, Bouzinova EV, West MJ, Wiborg O, Finsen B.

Neurobiol Dis. 2019 Apr;124:573. doi: 10.1016/j.nbd.2019.01.021. No abstract available.

PMID:
30717840
27.

Effect of dupilumab on atopic manifestations in patients treated for atopic dermatitis in real-life practice.

Tauber M, Apoil PA, Richet C, Laurent J, De Bonnecaze G, Mouchon E, Cassagne M, Marguery MC, Hegazy S, Konstantinou MP, Severino M, Uthurriague C, Giordano-Labadie F, Didier A, Paul C.

Br J Dermatol. 2019 Jun;180(6):1551-1552. doi: 10.1111/bjd.17629. Epub 2019 Mar 27. No abstract available.

PMID:
30633329
28.

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.

Scala M, Accogli A, Allegri AME, Tassano E, Severino M, Morana G, Maghnie M, Capra V.

J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):95-99. doi: 10.1515/jpem-2018-0272.

PMID:
30530901
29.

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.

Tassano E, Uccella S, Giacomini T, Severino M, Fiorio P, Gimelli G, Ronchetto P.

Cytogenet Genome Res. 2018;156(3):144-149. doi: 10.1159/000494152. Epub 2018 Dec 4.

PMID:
30508811
30.

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program, Nigro V, Capra V.

Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20.

PMID:
30238602
31.

Hymenoptera Venom Allergy: Management of Children and Adults in Clinical Practice.

Bilò MB, Pravettoni V, Bignardi D, Bonadonna P, Mauro M, Novembre E, Quercia O, Cilia M, Cortellini G, Costantino MT, Cremonte L, Lodi Rizzini F, Macchia L, Marengo F, Murzilli F, Patella V, Reccardini F, Ricciardi L, Ridolo E, Romano A, Savi E, Schiavino D, Severino M, Pastorello EA.

J Investig Allergol Clin Immunol. 2019;29(3):180-205. doi: 10.18176/jiaci.0310. Epub 2018 Sep 5.

32.

Silver-Based Chemical Device as an Adjunct of Domestic Oral Hygiene: A Study on Periodontal Patients.

Candotto V, Lauritano D, Carinci F, Bignozzi CA, Pazzi D, Cura F, Severino M, Scarano A.

Materials (Basel). 2018 Aug 20;11(8). pii: E1483. doi: 10.3390/ma11081483.

33.

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Tassano E, Uccella S, Giacomini T, Striano P, Severino M, Porta S, Gimelli G, Ronchetto P.

Cytogenet Genome Res. 2018 Aug 8. doi: 10.1159/000491871. [Epub ahead of print]

PMID:
30086552
34.

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A, Scala M, Calcagno A, Napoli F, Di Iorgi N, Arrigo S, Mancardi MM, Prato G, Pisciotta L, Nagel M, Severino M, Capra V.

Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17.

PMID:
30026055
35.

Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia.

Severino M, Giacomini T, Verrina E, Prato G, Rossi A.

Neuroradiology. 2018 Sep;60(9):885-888. doi: 10.1007/s00234-018-2052-y. Epub 2018 Jul 6. No abstract available.

PMID:
29978300
36.

Established amyloid-β pathology is unaffected by chronic treatment with the selective serotonin reuptake inhibitor paroxetine.

Severino M, Sivasaravanaparan M, Olesen LØ, von Linstow CU, Metaxas A, Bouzinova EV, Khan AM, Lambertsen KL, Babcock AA, Gramsbergen JB, Wiborg O, Finsen B.

Alzheimers Dement (N Y). 2018 May 24;4:215-223. doi: 10.1016/j.trci.2018.04.005. eCollection 2018.

37.

Quantitative susceptibility map analysis in preterm neonates with germinal matrix-intraventricular hemorrhage.

Tortora D, Severino M, Sedlacik J, Toselli B, Malova M, Parodi A, Morana G, Fato MM, Ramenghi LA, Rossi A.

J Magn Reson Imaging. 2018 Nov;48(5):1199-1207. doi: 10.1002/jmri.26163. Epub 2018 May 10.

PMID:
29746715
38.

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group.

Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12.

PMID:
29709427
39.

Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study.

Conte G, Righini A, Griffiths PD, Rustico M, Lanna M, Mackie FL, Pinelli L, Prefumo F, Persico N, Igra MS, Parazzini C, Doneda C, Fichera A, Ambrosi C, Kilby M, Severino M, Triulzi F, Rossi A, Skipper N.

Radiology. 2018 Aug;288(2):582-590. doi: 10.1148/radiol.2018171267. Epub 2018 Apr 24.

PMID:
29688161
40.

Acute Communicating Hydrocephalus as Spinal Cord Surgery Complication in Patient with Lumbar Lipomyelocele.

Prior A, Severino M, Rossi A, Pavanello M, Piatelli G, Consales A.

World Neurosurg. 2018 Jul;115:468-472.e2. doi: 10.1016/j.wneu.2018.04.052. Epub 2018 Apr 17.

PMID:
29678699
41.

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy.

Tortora D, Severino M, Pacetti M, Morana G, Mancardi MM, Capra V, Cama A, Pavanello M, Rossi A.

AJNR Am J Neuroradiol. 2018 Jun;39(6):1157-1163. doi: 10.3174/ajnr.A5627. Epub 2018 Apr 19.

42.

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

Severino M, Lualdi S, Fiorillo C, Striano P, De Toni T, Peluso S, De Michele G, Rossi A, Filocamo M, Bruno C.

J Neurol. 2018 Jun;265(6):1419-1425. doi: 10.1007/s00415-018-8826-7. Epub 2018 Apr 17.

PMID:
29666984
43.

Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases.

Godano E, Morana G, Di Iorgi N, Pistorio A, Allegri AEM, Napoli F, Gastaldi R, Calcagno A, Patti G, Gallizia A, Notarnicola S, Giaccardi M, Noli S, Severino M, Tortora D, Rossi A, Maghnie M.

Eur J Endocrinol. 2018 Jun;178(6):613-622. doi: 10.1530/EJE-18-0094. Epub 2018 Apr 12.

PMID:
29650689
44.

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P.

Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1.

PMID:
29501613
45.

Pediatric astrocytic tumor grading: comparison between arterial spin labeling and dynamic susceptibility contrast MRI perfusion.

Morana G, Tortora D, Staglianò S, Nozza P, Mascelli S, Severino M, Piatelli G, Consales A, Lequin M, Garrè ML, Rossi A.

Neuroradiology. 2018 Apr;60(4):437-446. doi: 10.1007/s00234-018-1992-6. Epub 2018 Feb 16.

PMID:
29453753
46.

Vespa crabro immunotherapy versus Vespula-venom immunotherapy in Vespa crabro allergy: a comparison study in field re-stings.

Macchia D, Cortellini G, Mauro M, Meucci E, Quercia O, Manfredi M, Massolo A, Valentini M, Severino M, Passalacqua G.

World Allergy Organ J. 2018 Feb 2;11(1):3. doi: 10.1186/s40413-018-0183-6. eCollection 2018.

47.

Short Versus Longer Implants in Mandibular Alveolar Ridge Augmented Using Osteogenic Distraction: One-Year Follow-up of a Randomized Split-Mouth Trial.

Bernardi S, Gatto R, Severino M, Botticelli G, Caruso S, Rastelli C, Lupi E, Roias AQ, Iacomino E, Falisi G.

J Oral Implantol. 2018 Jun;44(3):184-191. doi: 10.1563/aaid-joi-D-16-00216. Epub 2018 Feb 13.

PMID:
29436942
48.

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Yao Y, Yasuda CL, Zhang G, Bargalló N, Bender B, Bernasconi N, Bernasconi A, Bernhardt BC, Blümcke I, Carlson C, Cavalleri GL, Cendes F, Concha L, Delanty N, Depondt C, Devinsky O, Doherty CP, Focke NK, Gambardella A, Guerrini R, Hamandi K, Jackson GD, Kälviäinen R, Kochunov P, Kwan P, Labate A, McDonald CR, Meletti S, O'Brien TJ, Ourselin S, Richardson MP, Striano P, Thesen T, Wiest R, Zhang J, Vezzani A, Ryten M, Thompson PM, Sisodiya SM.

Brain. 2018 Feb 1;141(2):391-408. doi: 10.1093/brain/awx341.

49.

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F.

Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18.

PMID:
29307700
50.

T2*-based MR imaging (gradient echo or susceptibility-weighted imaging) in midline and off-midline intracranial germ cell tumors: a pilot study.

Morana G, Alves CA, Tortora D, Finlay JL, Severino M, Nozza P, Ravegnani M, Pavanello M, Milanaccio C, Maghnie M, Rossi A, Garrè ML.

Neuroradiology. 2018 Jan;60(1):89-99. doi: 10.1007/s00234-017-1947-3. Epub 2017 Nov 11.

PMID:
29128947

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