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Page 1
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.
Novo A, Guerra IC, Rocha F, Gama-de-Sousa S, Borges T, Cerqueira R, Tavares P, Fonseca P. Novo A, et al. Among authors: gama de sousa s. BMJ Case Rep. 2012 Jun 29;2012:bcr1220115380. doi: 10.1136/bcr-12-2011-5380. BMJ Case Rep. 2012. PMID: 22751423 Free PMC article.
Genomic imbalances defining novel intellectual disability associated loci.
Lopes F, Torres F, Soares G, Barbosa M, Silva J, Duque F, Rocha M, Sá J, Oliveira G, Sá MJ, Temudo T, Sousa S, Marques C, Lopes S, Gomes C, Barros G, Jorge A, Rocha F, Martins C, Mesquita S, Loureiro S, Cardoso EM, Cálix MJ, Dias A, Martins C, Mota CR, Antunes D, Dupont J, Figueiredo S, Figueiroa S, Gama-de-Sousa S, Cruz S, Sampaio A, Eijk P, Weiss MM, Ylstra B, Rendeiro P, Tavares P, Reis-Lima M, Pinto-Basto J, Fortuna AM, Maciel P. Lopes F, et al. Among authors: gama de sousa s. Orphanet J Rare Dis. 2019 Jul 5;14(1):164. doi: 10.1186/s13023-019-1135-0. Orphanet J Rare Dis. 2019. PMID: 31277718 Free PMC article.
Scrotal hair in the first year of life.
Brito HF, Neves JC, Bento FM, Gama de Sousa SP. Brito HF, et al. Among authors: gama de sousa sp. Clin Pediatr (Phila). 2012 Aug;51(8):793-5. doi: 10.1177/0009922811409569. Epub 2011 May 27. Clin Pediatr (Phila). 2012. PMID: 21622687 No abstract available.
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.
Alvelos MI, Gonçalves CI, Coutinho E, Almeida JT, Bastos M, Sampaio ML, Melo M, Martins S, Dinis I, Mirante A, Gomes L, Saraiva J, Pereira BD, Gama-de-Sousa S, Moreno C, Guelho D, Martins D, Baptista C, Barros L, Ventura M, Gomes MM, Lemos MC. Alvelos MI, et al. Among authors: gama de sousa s. J Clin Med. 2020 Jan 20;9(1):288. doi: 10.3390/jcm9010288. J Clin Med. 2020. PMID: 31968686 Free PMC article.
Bilateral perisylvian polymicrogyria and chromosome 1 anomaly.
Ribeiro Mdo C, Gama de Sousa S, Freitas MM, Carrilho I, Fernandes I. Ribeiro Mdo C, et al. Among authors: gama de sousa s. Pediatr Neurol. 2007 Jun;36(6):418-20. doi: 10.1016/j.pediatrneurol.2007.01.015. Pediatr Neurol. 2007. PMID: 17560507
Pertussis in Portugal - time for a new strategy.
Gama de Sousa S, Barros H. Gama de Sousa S, et al. Rev Port Pneumol. 2010 Jul-Aug;16(4):573-88. doi: 10.1016/s2173-5115(10)70060-9. Rev Port Pneumol. 2010. PMID: 20700556 Free article. Review. English, Portuguese.
Bloody nipple discharge in a breastfeeding boy.
Gama de Sousa S, Costa E, Carvalho L, Gonçalves de Oliveira J. Gama de Sousa S, et al. J Paediatr Child Health. 2010 Dec;46(12):786-8. doi: 10.1111/j.1440-1754.2010.01918.x. J Paediatr Child Health. 2010. PMID: 21166917 No abstract available.