Bernard O - Search Results

1

Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.

Trioche P, Francoual J, Chalas J, Capel L, Bernard O, Labrune P. Trioche P, et al. Among authors: bernard o. Hum Mutat. 1999;14(1):91. doi: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B. Hum Mutat. 1999. PMID: 10447271

2

Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

Labrune P, Fabre M, Trioche P, Estournet-Mathiaud B, Grangeponte MC, Rambaud C, Maurage C, Bernard O. Labrune P, et al. Among authors: bernard o. Am J Med Genet. 1999 Dec 3;87(4):324-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<324::aid-ajmg8>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10588838

3

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury NR, Chowdhury JR, Munnich A, Odièvre M. Labrune P, et al. Among authors: bernard o. Hum Genet. 1994 Dec;94(6):693-7. doi: 10.1007/BF00206965. Hum Genet. 1994. PMID: 7989045

4

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C. Davit-Spraul A, et al. Among authors: bernard o. Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17. Mol Genet Metab. 2011. PMID: 21646031

5

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broué P, Feillet F, Bernard O, Labrune P, Baussan C. Davit-Spraul A, et al. Among authors: bernard o. Mol Genet Metab. 2008 Aug;94(4):443-447. doi: 10.1016/j.ymgme.2008.05.003. Epub 2008 Jun 9. Mol Genet Metab. 2008. PMID: 18541450

6

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.

Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O. Faivre L, et al. Among authors: bernard o. J Inherit Metab Dis. 1999 Aug;22(6):723-32. doi: 10.1023/a:1005544117285. J Inherit Metab Dis. 1999. PMID: 10472532

7

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, Scheffer GL, Paul M, Burdelski M, Bosma PJ, Bernard O, Hadchouel M, Elferink RP. Jacquemin E, et al. Among authors: bernard o. Gastroenterology. 2001 May;120(6):1448-58. doi: 10.1053/gast.2001.23984. Gastroenterology. 2001. PMID: 11313315

8

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

Crosnier C, Driancourt C, Raynaud N, Dhorne-Pollet S, Pollet N, Bernard O, Hadchouel M, Meunier-Rotival M. Crosnier C, et al. Among authors: bernard o. Gastroenterology. 1999 May;116(5):1141-8. doi: 10.1016/s0016-5085(99)70017-x. Gastroenterology. 1999. PMID: 10220506

9

CFC1 gene involvement in biliary atresia with polysplenia syndrome.

Davit-Spraul A, Baussan C, Hermeziu B, Bernard O, Jacquemin E. Davit-Spraul A, et al. Among authors: bernard o. J Pediatr Gastroenterol Nutr. 2008 Jan;46(1):111-2. doi: 10.1097/01.mpg.0000304465.60788.f4. J Pediatr Gastroenterol Nutr. 2008. PMID: 18162845

10

Liver transplantation in children with Alagille syndrome--a study of twelve cases.

Cardona J, Houssin D, Gauthier F, Devictor D, Losay J, Hadchouel M, Bernard O. Cardona J, et al. Among authors: bernard o. Transplantation. 1995 Aug 27;60(4):339-42. doi: 10.1097/00007890-199508270-00007. Transplantation. 1995. PMID: 7652762

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

759 results

Search Page

Filters