Bonafé L - Search Results

1

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

2

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Bonafé L, et al. Am J Hum Genet. 2001 Aug;69(2):269-77. doi: 10.1086/321970. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443547 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. Among authors: bonafe l. Am J Med Genet. 2001 Winter;106(4):282-93. Am J Med Genet. 2001. PMID: 11891680 Review.

4

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.

5

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. Among authors: bonafe l. 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.

6

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

7

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. Among authors: bonafe l. Rheumatol Int. 2004 Jan;24(1):53-6. doi: 10.1007/s00296-003-0341-0. Epub 2003 Jun 18. Rheumatol Int. 2004. PMID: 12819927

8

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. Among authors: bonafe l. 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

9

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.

Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. Jakkula E, et al. Among authors: bonafe l. J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942. J Med Genet. 2003. PMID: 14684695 Free PMC article. No abstract available.

10

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: bonafe l. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055

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