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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. Among authors: munnich a. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460
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: munnich a. 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.
Filippi syndrome: a new case with skeletal abnormalities.
Héron D, Billette de Villemeur T, Munnich A, Lyonnet S. Héron D, et al. Among authors: munnich a. J Med Genet. 1995 Aug;32(8):659-61. doi: 10.1136/jmg.32.8.659. J Med Genet. 1995. PMID: 7473664 Free PMC article. Review.
Craniosynostosis and kidney malformation in a case of Hennekam syndrome.
Cormier-Daire V, Lyonnet S, Lehnert A, Martin D, Salomon R, Patey N, Broyer M, Ricour C, Munnich A. Cormier-Daire V, et al. Among authors: munnich a. Am J Med Genet. 1995 May 22;57(1):66-8. doi: 10.1002/ajmg.1320570115. Am J Med Genet. 1995. PMID: 7645602
Upper limb malformations in DiGeorge syndrome.
Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Cormier-Daire V, et al. Among authors: munnich a. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784
A gene for hereditary multiple exostoses maps to chromosome 19p.
Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: munnich a. Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717. Hum Mol Genet. 1994. PMID: 8081357
1,064 results