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Page 1
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S. Touraine RL, et al. Am J Hum Genet. 2000 May;66(5):1496-503. doi: 10.1086/302895. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10762540 Free PMC article.
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.
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E; Société Française de Neurochirurgie. Denier C, et al. Among authors: nivelon chevallier a. Am J Hum Genet. 2004 Feb;74(2):326-37. doi: 10.1086/381718. Epub 2004 Jan 22. Am J Hum Genet. 2004. PMID: 14740320 Free PMC article.
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.
Said G, Lacroix C, Planté-Bordeneuve V, Messing B, Slama A, Crenn P, Nivelon-Chevallier A, Bedenne L, Soichot P, Manceau E, Rigaud D, Guiochon-Mantel A, Matuchansky C. Said G, et al. Among authors: nivelon chevallier a. J Neurol. 2005 Jun;252(6):655-62. doi: 10.1007/s00415-005-0712-4. Epub 2005 Mar 7. J Neurol. 2005. PMID: 15742109
Unique survival in chrondrodysplasia-hermaphrodism syndrome.
Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L. Thauvin-Robinet C, et al. Among authors: nivelon chevallier a. Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417. Am J Med Genet A. 2005. PMID: 15578577 No abstract available.
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X. Khau Van Kien P, et al. Among authors: nivelon chevallier a. Eur J Hum Genet. 2004 Mar;12(3):173-80. doi: 10.1038/sj.ejhg.5201119. Eur J Hum Genet. 2004. PMID: 14722581
Coffin-Lowry syndrome: a multicenter study.
Gilgenkrantz S, Mujica P, Gruet P, Tridon P, Schweitzer F, Nivelon-Chevallier A, Nivelon JL, Couillault G, David A, Verloes A, et al. Gilgenkrantz S, et al. Clin Genet. 1988 Oct;34(4):230-45. doi: 10.1111/j.1399-0004.1988.tb02870.x. Clin Genet. 1988. PMID: 3069251 Clinical Trial.
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Richard I, et al. Am J Hum Genet. 1997 May;60(5):1128-38. Am J Hum Genet. 1997. PMID: 9150160 Free PMC article.
51 results