Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 98


Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S.

Diagnostics (Basel). 2020 Jan 21;10(2). pii: E58. doi: 10.3390/diagnostics10020058.


RNA Therapeutics: How Far Have We Gone?

Coutinho MF, Matos L, Santos JI, Alves S.

Adv Exp Med Biol. 2019;1157:133-177. doi: 10.1007/978-3-030-19966-1_7. Review.


Maternal deaths and deaths of women of childbearing age in the indigenous population, Pernambuco, Brazil, 2006-2012.

Estima NM, Alves SV.

Epidemiol Serv Saude. 2019 Jun 27;28(2):e2018003. doi: 10.5123/S1679-49742019000200010. Portuguese, English.


The effects on the acoustic parameters and auditory-perceptive characteristics of voice in children submitted to adenoidectomy with or without tonsillectomy.

Pinto I, Firmino-Machado J, Castro E, Alves S, Helena D, Condé A.

Int J Pediatr Otorhinolaryngol. 2019 Oct;125:51-55. doi: 10.1016/j.ijporl.2019.06.021. Epub 2019 Jun 21.


The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S.

Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13.


Pediatric preseptal and orbital cellulitis: A 10-year experience.

Santos JC, Pinto S, Ferreira S, Maia C, Alves S, da Silva V.

Int J Pediatr Otorhinolaryngol. 2019 May;120:82-88. doi: 10.1016/j.ijporl.2019.02.003. Epub 2019 Feb 7.


Stridor as initial presentation of rolandic epilepsy.

Penêda JF, Alves S, Monteiro F, Ribeiro IS, Lima NB, Condé A.

Int J Pediatr Otorhinolaryngol. 2019 Apr;119:183-184. doi: 10.1016/j.ijporl.2019.01.040. Epub 2019 Jan 30.


Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS.

Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249.


Evaluation and validation of an analytical approach for high-throughput metabolomic fingerprinting using direct introduction-high-resolution mass spectrometry: Applicability to classification of urine of scrapie-infected ewes.

Rathahao-Paris E, Alves S, Boussaid N, Picard-Hagen N, Gayrard V, Toutain PL, Tabet JC, Rutledge DN, Paris A.

Eur J Mass Spectrom (Chichester). 2019 Apr;25(2):251-258. doi: 10.1177/1469066718806450. Epub 2018 Oct 18.


Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.

Matos L, Duarte AJ, Ribeiro D, Chaves J, Amaral O, Alves S.

Genes (Basel). 2018 Sep 11;9(9). pii: E455. doi: 10.3390/genes9090455.


Rapid photoinduced charge injection into covalent polyoxometalate-bodipy conjugates.

Black FA, Jacquart A, Toupalas G, Alves S, Proust A, Clark IP, Gibson EA, Izzet G.

Chem Sci. 2018 Jun 1;9(25):5578-5584. doi: 10.1039/c8sc00862k. eCollection 2018 Jul 7.


Delays in access to care for abortion-related complications: the experience of women in Northeast Brazil.

Araújo TVB, Aquino EML, Menezes GMS, Alves MTSSBE, Almeida MC, Alves SV, Coimbra L, Campbell OMR.

Cad Saude Publica. 2018 Jun 25;34(6):e00168116. doi: 10.1590/0102-311X00168116.


Arthroscopic Reduction-Association of the Scapholunate with an Absorbable Screw.

Jorge JT, Ferrão A, Alves S, Caetano R, Teixeira F.

J Wrist Surg. 2018 Jul;7(3):199-204. doi: 10.1055/s-0037-1608878. Epub 2017 Dec 8.


Congenital heart disease in adults: Assessmentof functional capacity using cardiopulmonary exercise testing.

Aguiar Rosa S, Agapito A, Soares RM, Sousa L, Oliveira JA, Abreu A, Silva AS, Alves S, Aidos H, Pinto FF, Ferreira RC.

Rev Port Cardiol. 2018 May;37(5):399-405. doi: 10.1016/j.repc.2017.09.020. English, Portuguese.


An untargeted evaluation of food contact materials by flow injection analysis-mass spectrometry (FIA-MS) combined with independent components analysis (ICA).

Habchi B, Kassouf A, Padellec Y, Rathahao-Paris E, Alves S, Rutledge DN, Maalouly J, Ducruet V.

Anal Chim Acta. 2018 Aug 31;1022:81-88. doi: 10.1016/j.aca.2018.03.042. Epub 2018 Mar 29.


The Diagnosing Challenge of a Positive ANCA Vasculitis in the Paediatric Age.

Preto C, Silva A, Alves S, Guedes M, Matos P, Mota C, Rocha P, Fernandes PC.

Case Rep Pediatr. 2017;2017:2962794. doi: 10.1155/2017/2962794. Epub 2017 Dec 19.


Positive and negative ion mode comparison for the determination of DNA/peptide noncovalent binding sites through the formation of "three-body" noncovalent fragment ions.

Brahim B, Tabet JC, Alves S.

Eur J Mass Spectrom (Chichester). 2018 Feb;24(1):168-177. doi: 10.1177/1469066717735672. Epub 2017 Oct 11.


Potential of dynamically harmonized Fourier transform ion cyclotron resonance cell for high-throughput metabolomics fingerprinting: control of data quality.

Habchi B, Alves S, Jouan-Rimbaud Bouveresse D, Appenzeller B, Paris A, Rutledge DN, Rathahao-Paris E.

Anal Bioanal Chem. 2018 Jan;410(2):483-490. doi: 10.1007/s00216-017-0738-3. Epub 2017 Nov 22.


Classification of deaths in women with human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth.

Brayner MC, Alves SV.

Rev Bras Epidemiol. 2017 Jul-Sep;20(3):371-381. doi: 10.1590/1980-5497201700030002. Portuguese, English.


Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Matos L, Alves S.

Diseases. 2016 Nov 9;4(4). pii: E33. doi: 10.3390/diseases4040033. Review.

Supplemental Content

Loading ...
Support Center