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Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.
Bataille MG, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, Bertherat J, Clauser E. Bataille MG, et al. Among authors: sousa sb. Eur J Endocrinol. 2013 Nov 29;170(1):151-160. doi: 10.1530/EJE-13-0740. Print 2014 Jan. Eur J Endocrinol. 2013. PMID: 24144965 Free PMC article.
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, Dupuis L, Dickson M, Lesman H, Lau T, Murphy D, Hama Salih K, Al-Musawi BMS, Al-Obaidi RGY, Rydzanicz M, Biela M, Santos MS, Aldeeri A, Gazda HT, Pais L, Shril S, Døllner H, Bartakke S, Laccone F, Soltysova A, Kitzler T, Soliman NA, Relator R, Levy MA, Kerkhof J, Rzasa J, Houlden H, Pilshofer GV, Jobst-Schwan T, Hildebrandt F, Sousa SB, Maroofian R, Yu TW, Krawitz P, Sadikovic B, Douzgou Houge S. Karimi K, et al. Among authors: sousa sb. Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01702-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39424669
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N. Sarli C, et al. Among authors: sousa sb. Am J Med Genet C Semin Med Genet. 2024 Jun 17:e32089. doi: 10.1002/ajmg.c.32089. Online ahead of print. Am J Med Genet C Semin Med Genet. 2024. PMID: 38884529
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Fredwall S, AlSayed M, Ben-Omran T, Boero S, Cormier-Daire V, Fauroux B, Guillén-Navarro E, Innig F, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Pejin Z, Sessa M, Sousa SB, Irving M. Fredwall S, et al. Among authors: sousa sb. Adv Ther. 2024 Jul;41(7):2545-2558. doi: 10.1007/s12325-024-02880-3. Epub 2024 May 15. Adv Ther. 2024. PMID: 38748332 Free PMC article.
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
Casareto L, Appelman-Dijkstra NM, Brandi ML, Chapurlat R, Cormier-Daire V, Hamdy NAT, Heath KE, Horn J, Mantovani G, Mohnike K, Sousa SB, Travessa A, Wekre LL, Zillikens MC, Sangiorgi L; European Reference Network on rare BONe Diseases. Casareto L, et al. Among authors: sousa sb. Eur J Med Genet. 2024 Apr;68:104916. doi: 10.1016/j.ejmg.2024.104916. Epub 2024 Feb 1. Eur J Med Genet. 2024. PMID: 38296035 Free article.
Pachydysostosis of the fibula in a case of familial adenomatous polyposis.
Oliveira D, Maia S, Balacó I, Coelho P, Almeida S, Venâncio M, Saraiva J, Nishimura G, Sousa SB. Oliveira D, et al. Among authors: sousa sb. Eur J Med Genet. 2024 Apr;68:104913. doi: 10.1016/j.ejmg.2024.104913. Epub 2024 Jan 28. Eur J Med Genet. 2024. PMID: 38286305 Free article.
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Among authors: sousa sb. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.
54 results