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Page 1
[Osteopathia striata with cranial sclerosis].
Barbosa M, Perdu B, Senra V, Macedo F, Van Hul W, Reis-Lima M, Pinto-Basto J. Barbosa M, et al. Acta Med Port. 2010 Nov-Dec;23(6):1147-50. Epub 2010 Dec 28. Acta Med Port. 2010. PMID: 21627892 Free article. Portuguese.
Osteopathia striata with cranial sclerosis owing to WTX gene defect.
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. Perdu B, et al. J Bone Miner Res. 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707. J Bone Miner Res. 2010. PMID: 20209645 Free article.
Muenke syndrome with osteochondroma.
Barbosa M, Almeida Mdo R, Reis-Lima M, Pinto-Basto J, dos Santos HG. Barbosa M, et al. Am J Med Genet A. 2009 Feb;149A(2):260-1. doi: 10.1002/ajmg.a.32616. Am J Med Genet A. 2009. PMID: 19097163 No abstract available.
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: pinto basto j. 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.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B. Peter VG, et al. Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2. Genet Med. 2019. PMID: 31263216 Free PMC article.
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH. Rosenfeld JA, et al. Among authors: pinto basto j. Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13. Am J Med Genet A. 2021. PMID: 33847457 Free PMC article.
39 results