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Items: 1 to 20 of 53

1.

Sinonasal computed tomography in pediatric cystic fibrosis: do we know the indications?

Manzini M, Schweiger C, Manica D, Machado LR, de Souza Dias Lopes P, Sekine L, Faccin CS, BejzmanPiltcher O, CauduroMarostica PJ.

Int J Pediatr Otorhinolaryngol. 2018 Oct;113:204-207. doi: 10.1016/j.ijporl.2018.07.049. Epub 2018 Jul 29.

PMID:
30173986
2.

Source and fractionation controls on subduction-related plutons and dike swarms in southern Patagonia (Torres del Paine area) and the low Nb/Ta of upper crustal igneous rocks.

Müntener O, Ewing T, Baumgartner LP, Manzini M, Roux T, Pellaud P, Allemann L.

Contrib Mineral Petrol. 2018;173(5):38. doi: 10.1007/s00410-018-1467-0. Epub 2018 Apr 19.

3.

Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity.

Zamarbide M, Oaks AW, Pond HL, Adelman JS, Manzini MC.

Front Genet. 2018 Mar 2;9:65. doi: 10.3389/fgene.2018.00065. eCollection 2018.

4.

Translating genetic and preclinical findings into autism therapies.

Chahrour M, Kleiman RJ, Manzini MC.

Dialogues Clin Neurosci. 2017 Dec;19(4):335-343. Review.

5.

Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry.

Choi SB, Lombard-Banek C, Muñoz-LLancao P, Manzini MC, Nemes P.

J Am Soc Mass Spectrom. 2018 May;29(5):913-922. doi: 10.1007/s13361-017-1838-1. Epub 2017 Nov 16.

PMID:
29147852
6.

Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior.

Vahid-Ansari F, Daigle M, Manzini MC, Tanaka KF, Hen R, Geddes SD, Béïque JC, James J, Merali Z, Albert PR.

J Neurosci. 2017 Dec 6;37(49):11967-11978. doi: 10.1523/JNEUROSCI.1668-17.2017. Epub 2017 Nov 3.

7.

Maxillary Hypoplasia: Differential Diagnosis of Nasal Obstruction in Infants.

da Costa AL, Manica D, Manzini M, Bernardi A, Pérez JA, Sekine L, Collares MVM, Kuhl G, Schweiger C.

J Craniofac Surg. 2017 Oct;28(7):e697-e700. doi: 10.1097/SCS.0000000000003868.

PMID:
28891901
8.

Influence of dietary and physical activity restriction on pediatric adenotonsillectomy postoperative care in Brazil: a randomized clinical trial.

Manica D, Sekine L, Abreu LS, Manzini M, Rabaioli L, Valério MM, Oliveira MP, Bergamaschi JA, Fernandes LA, Kuhl G, Schweiger C.

Braz J Otorhinolaryngol. 2018 Mar - Apr;84(2):191-195. doi: 10.1016/j.bjorl.2017.01.007. Epub 2017 Feb 22.

9.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.

Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.

10.

Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain.

Maynard TM, Manzini MC.

Neuron. 2017 Feb 8;93(3):476-479. doi: 10.1016/j.neuron.2017.01.015.

11.

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.

Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC.

J Neurosci. 2016 Nov 9;36(45):11402-11410. Review.

12.

Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex.

Choi SB, Zamarbide M, Manzini MC, Nemes P.

J Am Soc Mass Spectrom. 2017 Apr;28(4):597-607. doi: 10.1007/s13361-016-1532-8. Epub 2016 Nov 16.

PMID:
27853976
13.

Tracheostomy in children: a ten-year experience from a tertiary center in southern Brazil.

Schweiger C, Manica D, Becker CF, Abreu LSP, Manzini M, Sekine L, Kuhl G.

Braz J Otorhinolaryngol. 2017 Nov - Dec;83(6):627-632. doi: 10.1016/j.bjorl.2016.08.002. Epub 2016 Aug 24.

14.

Response to OK-432 sclerotherapy in the treatment of cervical lymphangioma with submucosal extension to the airway.

Manzini M, Schweiger C, Manica D, Kuhl G.

Braz J Otorhinolaryngol. 2016 Jun 1. pii: S1808-8694(16)30097-0. doi: 10.1016/j.bjorl.2016.04.016. [Epub ahead of print] No abstract available.

15.

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC.

Cereb Cortex. 2017 Feb 1;27(2):1670-1685. doi: 10.1093/cercor/bhw009.

PMID:
26826102
16.

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.

Ardiccioni C, Clarke OB, Tomasek D, Issa HA, von Alpen DC, Pond HL, Banerjee S, Rajashankar KR, Liu Q, Guan Z, Li C, Kloss B, Bruni R, Kloppmann E, Rost B, Manzini MC, Shapiro L, Mancia F.

Nat Commun. 2016 Jan 5;7:10175. doi: 10.1038/ncomms10175.

17.

Aging of the lungs in asymptomatic lifelong nonsmokers: findings on HRCT.

Winter DH, Manzini M, Salge JM, Busse A, Jaluul O, Jacob Filho W, Mathias W, Terra-Filho M.

Lung. 2015 Apr;193(2):283-90. doi: 10.1007/s00408-015-9700-3. Epub 2015 Mar 3.

PMID:
25731735
18.

Routine coagulation tests are not useful as a screening tool for the FII G20210A polymorphism.

Rolla R, Pergolini P, Vidali M, Pollarolo P, Appiani A, Cerutti C, Manzini M, Crisci A, Bellomo G.

Clin Lab. 2014;60(10):1725-33.

PMID:
25651720
19.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.

Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24.

20.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.

Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.

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