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341 results
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Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Raghunath M, Superti-Furga A, Godfrey M, Steinmann B. Raghunath M, et al. Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450. Hum Genet. 1993. PMID: 8428751
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.
Raghunath M, Steinmann B, Delozier-Blanchet C, Extermann P, Superti-Furga A. Raghunath M, et al. Pediatr Res. 1994 Oct;36(4):441-8. doi: 10.1203/00006450-199410000-00005. Pediatr Res. 1994. PMID: 7816518 Clinical Trial.
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.
Steinmann B, Bruckner P, Superti-Furga A. Steinmann B, et al. J Biol Chem. 1991 Jan 15;266(2):1299-303. J Biol Chem. 1991. PMID: 1985948
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
Sobetzko D, Eich G, Kalff-Suske M, Grzeschik KH, Superti-Furga A. Sobetzko D, et al. Am J Med Genet. 2000 Jan 31;90(3):239-42. Am J Med Genet. 2000. PMID: 10678662
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Campos-Xavier AB, et al. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481194 Free PMC article.
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. 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.
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.
Kleinle S, Wiesmann U, Superti-Furga A, Krähenbühl S, Boltshauser E, Reichen J, Liechti-Gallati S. Kleinle S, et al. Hum Genet. 1997 Oct;100(5-6):643-50. doi: 10.1007/s004390050567. Hum Genet. 1997. PMID: 9341886
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Am J Hum Genet. 1996 Feb;58(2):255-62. Am J Hum Genet. 1996. PMID: 8571951 Free PMC article.
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.
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