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671 results

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Page 1
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V. Jung C, et al. Among authors: unger s. Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x. Clin Genet. 2010. PMID: 20447141
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: unger s. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.
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.
671 results