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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: faivre l. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
[Prion diseases in pediatrics].
Sol-Caubel I, Castela F, Brousse V, Faivre L, Guigonis V, Thiriez G, Billette de Villemeur T. Sol-Caubel I, et al. Among authors: faivre l. Arch Pediatr. 1999 Mar;6(3):293-301. doi: 10.1016/S0929-693X(99)80269-3. Arch Pediatr. 1999. PMID: 10191898 Review. French.
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
Faivre L, Nivelon-Chevallier A, Kottler ML, Robinet C, Khau Van Kien P, Lorcerie B, Munnich A, Maroteaux P, Cormier-Daire V, LeMerrer M. Faivre L, et al. Am J Med Genet. 2001 Mar 1;99(2):132-6. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11241472 Review.
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. J Med Genet. 2001. PMID: 11694546 Free PMC article.
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Campos-Xavier B, et al. Among authors: faivre l. Hum Genet. 2001 Dec;109(6):653-8. doi: 10.1007/s00439-001-0644-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810278
730 results