Berthelot J - Search Results

1

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hentzen D, et al. Among authors: berthelot j. Hum Genet. 1991 Dec;88(2):153-6. doi: 10.1007/BF00206063. Hum Genet. 1991. PMID: 1721894

2

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

Bonaïti-Pellié C, Pelet A, Ogier H, Nelson JR, Largillière C, Berthelot J, Saudubray JM, Munnich A. Bonaïti-Pellié C, et al. Among authors: berthelot j. Hum Genet. 1990 Jan;84(2):163-6. doi: 10.1007/BF00208933. Hum Genet. 1990. PMID: 2298452

3

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. Among authors: berthelot j. Am J Hum Genet. 1992 Jul;51(1):191-6. Am J Hum Genet. 1992. PMID: 1609797 Free PMC article.

4

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G. Dodé C, et al. Am J Hum Genet. 2002 Jun;70(6):1498-506. doi: 10.1086/340786. Epub 2002 Apr 25. Am J Hum Genet. 2002. PMID: 11992256 Free PMC article.

5

X-linked liver glycogenosis: localization and isolation of a candidate gene.

Hendrickx J, Coucke P, Bossuyt P, Wauters J, Raeymaekers P, Marchau F, Smit GP, Stolte I, Sardharwalla IB, Berthelot J, et al. Hendrickx J, et al. Among authors: berthelot j. Hum Mol Genet. 1993 May;2(5):583-9. doi: 10.1093/hmg/2.5.583. Hum Mol Genet. 1993. PMID: 8518797

6

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G. Cuisset L, et al. Among authors: berthelot jm. Am J Hum Genet. 1999 Oct;65(4):1054-9. doi: 10.1086/302589. Am J Hum Genet. 1999. PMID: 10486324 Free PMC article.

7

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.

Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T. Jacquet H, et al. Among authors: berthelot j. J Med Genet. 2003 Jan;40(1):e7. doi: 10.1136/jmg.40.1.e7. J Med Genet. 2003. PMID: 12525555 Free PMC article. No abstract available.

8

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C. Struys EA, et al. Among authors: berthelot j. Mol Genet Metab. 2006 May;88(1):53-7. doi: 10.1016/j.ymgme.2005.12.002. Epub 2006 Jan 25. Mol Genet Metab. 2006. PMID: 16442322

9

Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family.

Berthelot JM, Maugars Y, Robillard N, Pascal O, Stalder JF, David A, Prost A. Berthelot JM, et al. Am J Med Genet. 1994 Oct 15;53(1):72-4. doi: 10.1002/ajmg.1320530115. Am J Med Genet. 1994. PMID: 7802040

10

Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.

Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Grall-Lerosey M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V. Houx L, et al. Among authors: berthelot jm. Arthritis Rheumatol. 2015 Nov;67(11):3027-36. doi: 10.1002/art.39292. Arthritis Rheumatol. 2015. PMID: 26245507

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