Bonafé L - Search Results

1

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ, Superti-Furga A, Bonafé L, Ballhausen D. Rimella-Le-Huu A, et al. Among authors: bonafe l. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S381-6. doi: 10.1007/s10545-008-0959-x. Epub 2008 Aug 9. J Inherit Metab Dis. 2008. PMID: 18679822

2

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.

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

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

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. 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

6

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. Among authors: bonafe l. 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

7

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. Among authors: bonafe l. 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

8

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. Among authors: bonafe l. 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

9

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation.

Bayar A, Acun C, Dursun A, Verhoeven N, Bonafé L, Keser S, Superti-Furga A. Bayar A, et al. Among authors: bonafe l. Clin Dysmorphol. 2005 Jan;14(1):7-11. Clin Dysmorphol. 2005. PMID: 15602086

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. Among authors: bonafe l. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

131 results

Search Page

Filters