Zabot MT - Search Results

1

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.

2

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

3

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.

4

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

5

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.

6

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

7

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

8

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.

9

Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis.

Maire I, Mandon G, Zabot MT, Mathieu M, Guibaud P. Maire I, et al. Among authors: zabot mt. J Inherit Metab Dis. 1980;2(2):29-34. doi: 10.1007/BF01799071. J Inherit Metab Dis. 1980. PMID: 6796758

10

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A. Merla G, et al. Among authors: zabot mt. Am J Hum Genet. 2006 Aug;79(2):332-41. doi: 10.1086/506371. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826523 Free PMC article.

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