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Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature. 2018 Sep;561(7722):E7. doi: 10.1038/s41586-018-0296-7.
Nature. 2018.
PMID: 29977062
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.
Szenker-Ravi E, et al. Among authors: de sousa sb.
Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16.
Nature. 2018.
PMID: 29769720
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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.
Moosa S, et al. Among authors: de sousa sb.
Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26.
Am J Hum Genet. 2019.
PMID: 31564437
Free PMC article.
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.
Oud MM, et al. Among authors: de sousa sb.
Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.
Am J Hum Genet. 2017.
PMID: 28132690
Free PMC article.
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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.
Bowen ME, et al. Among authors: de sousa sb.
PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.
PLoS Genet. 2011.
PMID: 21533187
Free PMC article.
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The first European consensus on principles of management for achondroplasia.
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K.
Cormier-Daire V, et al. Among authors: de sousa sb.
Orphanet J Rare Dis. 2021 Jul 31;16(1):333. doi: 10.1186/s13023-021-01971-6.
Orphanet J Rare Dis. 2021.
PMID: 34332609
Free PMC article.
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Relationship between Burden, Quality of Life and Difficulties of Informal Primary Caregivers in the Context of the COVID-19 Pandemic: Analysis of the Contributions of Public Policies.
Gaspar T, Raimundo M, de Sousa SB, Barata M, Cabrita T.
Gaspar T, et al. Among authors: de sousa sb.
Int J Environ Res Public Health. 2023 Mar 15;20(6):5205. doi: 10.3390/ijerph20065205.
Int J Environ Res Public Health. 2023.
PMID: 36982114
Free PMC article.
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