Superti-Furga A - Search Results

1

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. Garcia Segarra N, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791401 Review.

2

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097

3

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Superti-Furga A, et al. Am J Med Genet. 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9674906

4

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML. Hurvitz JR, et al. Nat Genet. 1999 Sep;23(1):94-8. doi: 10.1038/12699. Nat Genet. 1999. PMID: 10471507

5

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.

6

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.

Faber J, Winterpacht A, Zabel B, Gnoinski W, Schinzel A, Steinmann B, Superti-Furga A. Faber J, et al. J Med Genet. 2000 Apr;37(4):318-20. doi: 10.1136/jmg.37.4.318. J Med Genet. 2000. PMID: 10819645 Free PMC article. No abstract available.

7

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A. Stucki U, et al. Am J Med Genet. 2001 Apr 22;100(2):122-9. doi: 10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11298373

8

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.

9

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

10

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.

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