Superti-Furga A - Search Results

1

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

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

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B. Winterpacht A, et al. J Med Genet. 1996 Aug;33(8):649-54. doi: 10.1136/jmg.33.8.649. J Med Genet. 1996. PMID: 8863156 Free PMC article.

4

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

5

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.

Unger S, Le Merrer M, Meinecke P, Chitayat D, Rossi A, Superti-Furga A. Unger S, et al. Pediatr Radiol. 2001 Dec;31(12):893-4. doi: 10.1007/s002470100017. Pediatr Radiol. 2001. PMID: 11727031 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

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. 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.

8

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A. Zankl A, et al. Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. Am J Med Genet A. 2004. PMID: 15316962

9

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafé L. Ha-Vinh R, et al. Am J Med Genet A. 2004 Dec 1;131(2):115-20. doi: 10.1002/ajmg.a.30231. Am J Med Genet A. 2004. PMID: 15523624

10

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A. Zankl A, et al. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Am J Med Genet A. 2005. PMID: 15643621

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