Superti-Furga A - Search Results

1

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.

2

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

Superti-Furga A, Steinmann B, Duc G, Gitzelmann R. Superti-Furga A, et al. Eur J Pediatr. 1991 May;150(7):493-7. doi: 10.1007/BF01958431. Eur J Pediatr. 1991. PMID: 1915502

3

Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.

Superti-Furga A, Hoffmann GF. Superti-Furga A, et al. Eur J Pediatr. 1997 Nov;156(11):821-8. doi: 10.1007/s004310050721. Eur J Pediatr. 1997. PMID: 9392391 Review.

4

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.

5

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

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. 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

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.

Superti-Furga A. Superti-Furga A. Eur J Pediatr. 2003 Dec;162 Suppl 1:S17-20. doi: 10.1007/s00431-003-1344-2. Epub 2003 Oct 25. Eur J Pediatr. 2003. PMID: 14579152 Review.

9

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

10

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

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