Zabot MT - Search Results

1

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.

2

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

3

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.

4

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

5

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

6

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

7

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al. Shaag A, et al. Among authors: zabot mt. Am J Hum Genet. 1995 Sep;57(3):572-80. Am J Hum Genet. 1995. PMID: 7668285 Free PMC article.

8

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N. Andresen BS, et al. Among authors: zabot mt. Hum Mol Genet. 1996 Apr;5(4):461-72. doi: 10.1093/hmg/5.4.461. Hum Mol Genet. 1996. PMID: 8845838

9

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.

10

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: zabot mt. Am J Hum Genet. 1996 Mar;58(3):457-71. Am J Hum Genet. 1996. PMID: 8644704 Free PMC article.

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