Lourenco T - Search Results

1

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham G, Snead M, Richards A. Vijzelaar R, et al. Among authors: lourenco t. BMC Med Genet. 2013 Apr 26;14:48. doi: 10.1186/1471-2350-14-48. BMC Med Genet. 2013. PMID: 23621912 Free PMC article.

2

Urinary tract effects of HPSE2 mutations.

Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. Among authors: lourenco t. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.

3

Neonatal Marfan syndrome: a successful early multidisciplinary approach.

Amado M, Calado MA, Ferreira R, Lourenço T. Amado M, et al. Among authors: lourenco t. BMJ Case Rep. 2014 Jun 13;2014:bcr2013202438. doi: 10.1136/bcr-2013-202438. BMJ Case Rep. 2014. PMID: 24928929 Free PMC article.

4

First seizure as late presentation of velo-cardio-facial syndrome.

Simão I, Lourenço T, Lopes L, Ramos MP. Simão I, et al. Among authors: lourenco t. J Pediatr Endocrinol Metab. 2013;26(3-4):381-3. doi: 10.1515/jpem-2012-0348. J Pediatr Endocrinol Metab. 2013. PMID: 23327824

5

[Hereditary pancreatitis in a child].

Freira S, Lourenço T, Cerqueira R, Tavares P, Pereira G, Barata D, Cabral J. Freira S, et al. Among authors: lourenco t. Acta Med Port. 2009 May-Jun;22(3):313-7. Epub 2009 Jul 15. Acta Med Port. 2009. PMID: 19686634 Free article. Portuguese.

6

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.

Marques B, Ferreira C, Brito F, Pedro S, Alves C, Lourenço T, Amorim M, Correia H. Marques B, et al. Among authors: lourenco t. Mol Cytogenet. 2016 Nov 25;9:87. doi: 10.1186/s13039-016-0295-z. eCollection 2016. Mol Cytogenet. 2016. PMID: 27924152 Free PMC article.

7

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Vieira JP, Lopes F, Silva-Fernandes A, Sousa MV, Moura S, Sousa S, Costa BM, Barbosa M, Ylstra B, Temudo T, Lourenço T, Maciel P. Vieira JP, et al. Among authors: lourenco t. Int J Dev Neurosci. 2015 Nov;46:82-7. doi: 10.1016/j.ijdevneu.2015.07.010. Epub 2015 Aug 10. Int J Dev Neurosci. 2015. PMID: 26287660

8

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: lourenco t. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.

9

Pain scores at the insertion of the levonorgestrel-releasing intrauterine system among paralympic athletes: Findings from Kyleena® Paralympic sport performance study.

de Araújo MP, de Batista Depes D, Lourenço TF, Schreiter Melloni MA, da Silva HGPV, de Carvalho PC, Guerra-Júnior G. de Araújo MP, et al. Among authors: lourenco tf. Eur J Obstet Gynecol Reprod Biol. 2024 Dec 20:S0301-2115(24)00704-8. doi: 10.1016/j.ejogrb.2024.12.030. Online ahead of print. Eur J Obstet Gynecol Reprod Biol. 2024. PMID: 39721846 No abstract available.

10

Knowledge About Sleep, Sleep Hygiene, and Sleep Behaviors of Paralympic Athletes.

Grade I, Esteves AM, Lira FS, Padilha CS, Stieler E, Brandt V, Silva S, Lourenço T, de Mello MT, Silva A. Grade I, et al. Among authors: lourenco t. J Sport Rehabil. 2024 Nov 11:1-9. doi: 10.1123/jsr.2023-0374. Online ahead of print. J Sport Rehabil. 2024. PMID: 39527949

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