Ségues B - Search Results

1

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.

Calvas P, Ségues B, Rozet JM, Rabier D, Bonnefond JP, Munnich A. Calvas P, et al. Among authors: segues b. Hum Mutat. 1998;Suppl 1:S81-4. doi: 10.1002/humu.1380110128. Hum Mutat. 1998. PMID: 9452049 No abstract available.

2

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.

Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM, et al. Segues B, et al. Prenat Diagn. 1995 Aug;15(8):757-61. doi: 10.1002/pd.1970150812. Prenat Diagn. 1995. PMID: 7479595

3

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.

Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A. Gilbert-Dussardier B, et al. Among authors: segues b. Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831. Hum Mol Genet. 1994. PMID: 8081373 No abstract available.

4

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

Gilbert-Dussardier B, Segues B, Rozet JM, Rabier D, Calvas P, de Lumley L, Bonnefond JP, Munnich A. Gilbert-Dussardier B, et al. Among authors: segues b. Hum Mutat. 1996;8(1):74-6. doi: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8807340 No abstract available.

5

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Ségues B, Veber PS, Rabier D, Calvas P, Saudubray JM, Gilbert-Dussardier B, Bonnefont JP, Munnich A. Ségues B, et al. Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#. Hum Mutat. 1996. PMID: 8956045 No abstract available.

6

Severe manifestations in carrier females in X linked retinitis pigmentosa.

Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: segues b. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.

7

Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Oudet C, Weber C, Kaplan J, Segues B, Croquette MF, Roman EO, Hanauer A. Oudet C, et al. Among authors: segues b. J Med Genet. 1993 Apr;30(4):300-3. doi: 10.1136/jmg.30.4.300. J Med Genet. 1993. PMID: 8487275 Free PMC article.

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