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Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.
Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ. Chitayat D, et al. Among authors: unger s. Am J Med Genet A. 2008 Dec 1;146A(23):3038-53. doi: 10.1002/ajmg.a.32554. Am J Med Genet A. 2008. PMID: 19006208
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JT, Cole DE, Superti-Furga A. Unger S, et al. Eur J Pediatr. 2005 Apr;164(4):236-43. doi: 10.1007/s00431-004-1591-x. Epub 2004 Dec 3. Eur J Pediatr. 2005. PMID: 15580357
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A. Renella R, et al. Among authors: unger s. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. Am J Med Genet A. 2006. PMID: 16470600
Fetal MR imaging of atelosteogenesis type II (AO-II).
Miller E, Blaser S, Miller S, Keating S, Thompson M, Unger S, Toi A, Berger H, Chong K. Miller E, et al. Among authors: unger s. Pediatr Radiol. 2008 Dec;38(12):1345-9. doi: 10.1007/s00247-008-0974-y. Epub 2008 Aug 21. Pediatr Radiol. 2008. PMID: 18716767
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Mendoza-Londono R, et al. Among authors: unger s. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581468
Clinical and radiographic delineation of odontochondrodysplasia.
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. Am J Med Genet A. 2008. PMID: 18241073 Free article.
692 results