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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: lyonnet s. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. ...
Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaire …
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J. Rey F, et al. Among authors: lyonnet s. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.
Caillaud C, Vilarinho L, Vilarinho A, Rey F, Berthelon M, Santos R, Lyonnet S, Briard ML, Osorio RV, Rey J, et al. Caillaud C, et al. Among authors: lyonnet s. Hum Genet. 1992 Apr;89(1):69-72. doi: 10.1007/BF00207045. Hum Genet. 1992. PMID: 1349566
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.
Lyonnet S, Pelet A, Royer G, Delrieu O, Serville F, le Marec B, Gruensteudel A, Pfeiffer RA, Briard ML, Dubay C, et al. Lyonnet S, et al. Genomics. 1992 Oct;14(2):508-10. doi: 10.1016/s0888-7543(05)80254-x. Genomics. 1992. PMID: 1427869
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
Le Merrer M, Ben Othmane K, Stanescu V, Lyonnet S, Van Maldergem L, Royer G, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: lyonnet s. J Med Genet. 1992 Oct;29(10):713-5. doi: 10.1136/jmg.29.10.713. J Med Genet. 1992. PMID: 1433231 Free PMC article.
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Lyonnet S, et al. J Med Genet. 1992 Jan;29(1):68-9. doi: 10.1136/jmg.29.1.68. J Med Genet. 1992. PMID: 1552551 Free PMC article.
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.
Lyonnet S, Melle D, de Braekeleer M, Laframboise R, Rey F, John SW, Berthelon M, Berthelot J, Journel H, Le Marec B, et al. Lyonnet S, et al. Am J Hum Genet. 1992 Jul;51(1):191-6. Am J Hum Genet. 1992. PMID: 1609797 Free PMC article.
Two distinct mutations at a single BamHI site in phenylketonuria.
Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S. Melle D, et al. Among authors: lyonnet s. J Med Genet. 1991 Jan;28(1):38-40. doi: 10.1136/jmg.28.1.38. J Med Genet. 1991. PMID: 1671881 Free PMC article.
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S. Labrune P, et al. Among authors: lyonnet s. Am J Hum Genet. 1991 Jun;48(6):1115-20. Am J Hum Genet. 1991. PMID: 2035532 Free PMC article.
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A. Lyonnet S, et al. Am J Hum Genet. 1989 Apr;44(4):511-7. Am J Hum Genet. 1989. PMID: 2564729 Free PMC article.
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