Zabot MT - Search Results

1

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

2

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT. Reiss J, et al. Among authors: zabot mt. Am J Hum Genet. 1999 Mar;64(3):706-11. doi: 10.1086/302296. Am J Hum Genet. 1999. PMID: 10053004 Free PMC article.

3

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C. Reiss J, et al. Among authors: zabot mt. Hum Genet. 1998 Dec;103(6):639-44. doi: 10.1007/s004390050884. Hum Genet. 1998. PMID: 9921896

4

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

Shalata A, Mandel H, Reiss J, Szargel R, Cohen-Akenine A, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen N. Shalata A, et al. Among authors: zabot mt. Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916. Am J Hum Genet. 1998. PMID: 9634514 Free PMC article.

5

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.

Shalata A, Mandel H, Dorche C, Zabot MT, Shalev S, Hugeirat Y, Arieh D, Ronit Z, Reiss J, Anbinder Y, Cohen N. Shalata A, et al. Among authors: zabot mt. Prenat Diagn. 2000 Jan;20(1):7-11. Prenat Diagn. 2000. PMID: 10701843

6

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T. Reiss J, et al. Among authors: zabot mt. Nat Genet. 1998 Sep;20(1):51-3. doi: 10.1038/1706. Nat Genet. 1998. PMID: 9731530

7

5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.

Divry P, Roulaud-Parrot F, Dorche C, Zabot MT, Contraire B, Hagenfeldt L, Larsson A. Divry P, et al. Among authors: zabot mt. J Inherit Metab Dis. 1991;14(3):341-4. doi: 10.1007/BF01811698. J Inherit Metab Dis. 1991. PMID: 1770788 No abstract available.

8

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.

9

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

10

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.

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