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691 results

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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS. Nampoothiri S, et al. Among authors: unger s. Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249. Clin Dysmorphol. 2019. PMID: 30507725
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
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A. Bonafé L, et al. Among authors: unger s. PLoS Genet. 2005 Oct;1(4):e47. doi: 10.1371/journal.pgen.0010047. PLoS Genet. 2005. PMID: 16244706 Free PMC article.
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
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD. Zankl A, et al. Among authors: unger s. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 Nov 29. Eur J Hum Genet. 2007. PMID: 17133256 Free PMC article.
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S. Walter K, et al. Among authors: unger s. Am J Med Genet A. 2007 Jan 15;143A(2):161-7. doi: 10.1002/ajmg.a.31516. Am J Med Genet A. 2007. PMID: 17163530
Filamin A mutation is one cause of FG syndrome.
Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ. Unger S, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1876-9. doi: 10.1002/ajmg.a.31751. Am J Med Genet A. 2007. PMID: 17632775
691 results