Zabot MT - Search Results

1

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

Aral B, Coudé M, London J, Aupetit J, Chassé JF, Zabot MT, Chadefaux-Vekemans B, Kamoun P. Aral B, et al. Among authors: zabot mt. Hum Mutat. 1997;9(1):81-2. doi: 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L. Hum Mutat. 1997. PMID: 8990018 No abstract available.

2

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

Liu G, Aral B, Zabot MT, Kamoun P, Ceballos-Picot I. Liu G, et al. Among authors: zabot mt. Hum Mutat. 1998;Suppl 1:S88-90. doi: 10.1002/humu.1380110130. Hum Mutat. 1998. PMID: 9452051 No abstract available.

3

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

Coudé M, Aupetit J, Zabot MT, Kamoun P, Chadefaux-Vekemans B. Coudé M, et al. Among authors: zabot mt. J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461. J Inherit Metab Dis. 1998. PMID: 9870207

4

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C. Poyau A, et al. Among authors: zabot mt. Hum Genet. 2000 Feb;106(2):194-205. doi: 10.1007/s004390051028. Hum Genet. 2000. PMID: 10746561

5

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E. Taillandier A, et al. Among authors: zabot mt. Hum Mutat. 2000 Mar;15(3):293. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10679946

6

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Seyrantepe V, et al. Among authors: zabot mt. Hum Mutat. 2003 Nov;22(5):343-52. doi: 10.1002/humu.10268. Hum Mutat. 2003. PMID: 14517945 Review.

7

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV. Johnson JL, et al. Among authors: zabot mt. Hum Mutat. 2002 Jul;20(1):74. doi: 10.1002/humu.9038. Hum Mutat. 2002. PMID: 12112661

8

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

Marsac C, Benelli C, Desguerre I, Diry M, Fouque F, De Meirleir L, Ponsot G, Seneca S, Poggi F, Saudubray JM, Zabot MT, Fontan D, Lissens W. Marsac C, et al. Among authors: zabot mt. Hum Genet. 1997 Jun;99(6):785-92. doi: 10.1007/s004390050449. Hum Genet. 1997. PMID: 9187674

9

Cerebral dysgenesis does not exclude OFD I syndrome.

Thauvin-Robinet C, Lesca G, Aral B, Gigot N, Lambert S, Gueneau L, Macca M, Franco B, Huet F, Zabot MT, Attié-Bitach T, Attia-Sobol J, Faivre L. Thauvin-Robinet C, et al. Among authors: zabot mt. Am J Med Genet A. 2011 Feb;155A(2):455-7. doi: 10.1002/ajmg.a.33812. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271673 No abstract available.

10

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D. Mousson de Camaret B, et al. Among authors: zabot mt. Biochem J. 2007 Mar 1;402(2):377-85. doi: 10.1042/BJ20060705. Biochem J. 2007. PMID: 17073823 Free PMC article.

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