Superti-Furga A - Search Results

1

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A. Nampoothiri S, et al. Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25044831

2

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.

3

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

4

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.

5

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

6

Prenatal diagnosis of boomerang dysplasia.

Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ. Wessels MW, et al. Am J Med Genet A. 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239. Am J Med Genet A. 2003. PMID: 12955767

7

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

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

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

Zankl A, Jaeger G, Bonafé L, Boltshauser E, Superti-Furga A. Zankl A, et al. Am J Med Genet A. 2004 Dec 15;131(3):299-300. doi: 10.1002/ajmg.a.30366. Am J Med Genet A. 2004. PMID: 15523615

10

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

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