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Page 1
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR. Rainger J, et al. Among authors: saponari a. PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7. PLoS Genet. 2011. PMID: 21750680 Free PMC article.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR. Rainger J, et al. Among authors: saponari a. PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586382 Free PMC article.
Wiedemann-Rautenstrauch or trichorhinophalangeal syndrome?
Pallotta R, Saponari A. Pallotta R, et al. Among authors: saponari a. Pediatr Dermatol. 2005 Nov-Dec;22(6):573; author reply 573-4. doi: 10.1111/j.1525-1470.2005.00147.x. Pediatr Dermatol. 2005. PMID: 16354270 No abstract available.
Hyperpigmented patch associated to heterochromia iridis.
Pallotta R, Saponari A. Pallotta R, et al. Among authors: saponari a. Pediatr Dermatol. 2005 Nov-Dec;22(6):572; author reply 572. doi: 10.1111/j.1525-1470.2005.00144.x. Pediatr Dermatol. 2005. PMID: 16354268 No abstract available.
Macrothrombocytopenia in velocardiofacial syndrome.
Pallotta R, Evangelista V, Margaglione M, Bucci I, Saponari A. Pallotta R, et al. Among authors: saponari a. J Thromb Haemost. 2005 Mar;3(3):601-3. doi: 10.1111/j.1538-7836.2005.01202.x. J Thromb Haemost. 2005. PMID: 15748265 Free article. No abstract available.
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts.
Avnet S, Pallotta R, Perut F, Baldini N, Pittis MG, Saponari A, Lucarelli E, Dozza B, Greggi T, Maraldi NM, Capanni C, Mattioli E, Columbaro M, Lattanzi G. Avnet S, et al. Among authors: saponari a. Biochim Biophys Acta. 2011 Jul;1812(7):711-8. doi: 10.1016/j.bbadis.2011.03.006. Epub 2011 Mar 16. Biochim Biophys Acta. 2011. PMID: 21419220 Free article.
Classical lissencephaly associated with dolichocephaly, hair and nail defect.
Celentano C, Zannolli R, Buoni S, Domizio S, Sabatino G, Colosimo C, Saponari A, Pallotta R, Swift JA, Rotmensch S, Liberati M. Celentano C, et al. Among authors: saponari a. Brain Dev. 2006 Jul;28(6):392-4. doi: 10.1016/j.braindev.2005.10.011. Epub 2005 Dec 20. Brain Dev. 2006. PMID: 16376045
The Expanding Menagerie of Prunus-Infecting Luteoviruses.
Khalili M, Candresse T, Koloniuk I, Safarova D, Brans Y, Faure C, Delmas M, Massart S, Aranda MA, Caglayan K, Decroocq V, Drogoudi P, Glasa M, Pantelidis G, Navratil M, Latour F, Spak J, Pribylova J, Mihalik D, Palmisano F, Saponari A, Necas T, Sedlak J, Marais A. Khalili M, et al. Among authors: saponari a. Phytopathology. 2023 Feb;113(2):345-354. doi: 10.1094/PHYTO-06-22-0203-R. Epub 2023 Jan 19. Phytopathology. 2023. PMID: 35972890 Free article.
15 results