Superti-Furga A - Search Results

1

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

2

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. Superti-Furga A, et al. J Med Genet. 1999 Aug;36(8):621-4. J Med Genet. 1999. PMID: 10465113 Free PMC article.

3

Molecular-pathogenetic classification of genetic disorders of the skeleton.

Superti-Furga A, Bonafé L, Rimoin DL. Superti-Furga A, et al. Am J Med Genet. 2001 Winter;106(4):282-93. Am J Med Genet. 2001. PMID: 11891680 Review.

4

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A. Bonafé L, et al. Clin Genet. 2002 Feb;61(2):146-51. doi: 10.1034/j.1399-0004.2002.610210.x. Clin Genet. 2002. PMID: 11940090

5

DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot).

Bonafé L, Blanton SH, Scott A, Broussard S, Wise CA, Superti-Furga A, Hecht JT. Bonafé L, et al. J Med Genet. 2002 Apr;39(4):e20. doi: 10.1136/jmg.39.4.e20. J Med Genet. 2002. PMID: 11950872 Free PMC article. No abstract available.

6

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. Ballhausen D, et al. J Med Genet. 2003 Jan;40(1):65-71. doi: 10.1136/jmg.40.1.65. J Med Genet. 2003. PMID: 12525546 Free PMC article. No abstract available.

7

Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.

Di Rocco M, Stella G, Bruno C, Doria Lamba L, Bado M, Superti-Furga A. Di Rocco M, et al. Am J Med Genet A. 2003 May 1;118A(4):362-8. doi: 10.1002/ajmg.a.10242. Am J Med Genet A. 2003. PMID: 12687669

8

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

Bonafé L, Giunta C, Gassner M, Steinmann B, Superti-Furga A. Bonafé L, et al. Clin Genet. 2003 Jul;64(1):28-35. doi: 10.1034/j.1399-0004.2003.00085.x. Clin Genet. 2003. PMID: 12791036

9

Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.

Ehl S, Uhl M, Berner R, Bonafé L, Superti-Furga A, Kirchhoff A. Ehl S, et al. Rheumatol Int. 2004 Jan;24(1):53-6. doi: 10.1007/s00296-003-0341-0. Epub 2003 Jun 18. Rheumatol Int. 2004. PMID: 12819927

10

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. Mäkitie O, et al. Am J Med Genet A. 2003 Oct 15;122A(3):187-92. doi: 10.1002/ajmg.a.20282. Am J Med Genet A. 2003. PMID: 12966518

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