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Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Among authors: saraiva j. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Zweier C, et al. Among authors: saraiva j. Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436255 Free PMC article.
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Beleza-Meireles A, et al. Among authors: saraiva jm. Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20. Eur J Med Genet. 2015. PMID: 26206081
Joubert syndrome: a review.
Saraiva JM, Baraitser M. Saraiva JM, et al. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415. Am J Med Genet. 1992. PMID: 1341417 Review.
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Brunner HG, van Bon BW, Carvalho CM. White J, et al. Among authors: saraiva jm. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817016 Free PMC article.
12q21.2q22 deletion: a new patient.
Oliveira R, Pereira C, Melo JB, Mesquita S, Venâncio M, Carreira IM, Saraiva J. Oliveira R, et al. Among authors: saraiva j. Am J Med Genet A. 2015 Aug;167A(8):1877-83. doi: 10.1002/ajmg.a.37077. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25845712
874 results