Superti-Furga A - Search Results

1

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unger S, Superti-Furga A. Atallah I, et al. Clin Genet. 2021 Jun;99(6):780-788. doi: 10.1111/cge.13942. Epub 2021 Feb 21. Clin Genet. 2021. PMID: 33586135

2

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.

Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A. Zankl A, et al. Clin Genet. 2005 Mar;67(3):261-6. doi: 10.1111/j.1399-0004.2004.00402.x. Clin Genet. 2005. PMID: 15691365

3

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. PLoS Genet. 2005 Oct;1(4):e47. doi: 10.1371/journal.pgen.0010047. PLoS Genet. 2005. PMID: 16244706 Free PMC article.

4

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. 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

5

Nosology and classification of genetic skeletal disorders: 2006 revision.

Superti-Furga A, Unger S. Superti-Furga A, et al. Am J Med Genet A. 2007 Jan 1;143A(1):1-18. doi: 10.1002/ajmg.a.31483. Am J Med Genet A. 2007. PMID: 17120245

6

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.

7

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. 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

8

A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].

Renella R, Superti-Furga A. Renella R, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1394-5. doi: 10.1002/ajmg.a.31755. Am J Med Genet A. 2007. PMID: 17497723 No abstract available.

9

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

10

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Unger S, Bonafé L, Superti-Furga A. Unger S, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328978 Review.

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