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Year Number of Results
2008 2
2009 1
2010 2
2011 4
2012 1
2013 3
2014 5
2017 2
2018 6
2019 3
2020 3
2021 4
2022 5
2023 10
2024 5

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49 results

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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: sousa sb. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Congenital cutaneous ossification.
Gomes TF, Kieselová K, Santiago F, Cardoso JC, Cunha F, Sousa SB, Perez de Nanclares G. Gomes TF, et al. Among authors: sousa sb. J Paediatr Child Health. 2022 Jul;58(7):1262-1264. doi: 10.1111/jpc.15814. Epub 2021 Oct 27. J Paediatr Child Health. 2022. PMID: 34706128 No abstract available.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: sousa sb. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Eye bank procedures: donor selection criteria.
Sousa SJFE, Sousa SBFE. Sousa SJFE, et al. Among authors: sousa sbfe. Arq Bras Oftalmol. 2018 Jan-Feb;81(1):73-79. doi: 10.5935/0004-2749.20180017. Arq Bras Oftalmol. 2018. PMID: 29538600 Free article. Review.
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
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Nmezi B, Bey GR, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Alcocer EL, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold M, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. Nmezi B, et al. Among authors: sousa sb. bioRxiv [Preprint]. 2023 Aug 9:2023.08.03.551473. doi: 10.1101/2023.08.03.551473. bioRxiv. 2023. PMID: 37609196 Free PMC article. Preprint.
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB. Irving M, et al. Among authors: sousa sb. Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2. Orphanet J Rare Dis. 2023. PMID: 37501185 Free PMC 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.
Optimising care and follow-up of adults with achondroplasia.
Fredwall S, Allum Y, AlSayed M, Alves I, Ben-Omran T, Boero S, Cormier-Daire V, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB, Wright M. Fredwall S, et al. Among authors: sousa sb. Orphanet J Rare Dis. 2022 Aug 20;17(1):318. doi: 10.1186/s13023-022-02479-3. Orphanet J Rare Dis. 2022. PMID: 35987833 Free PMC article.
49 results